Variant report

Variant	rs1045777
Chromosome Location	chr9:140512555-140512556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:196)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:196 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr9:140512352-140513619	SK-N-SH	brain:	n/a	chr9:140513366-140513377 chr9:140513354-140513365 chr9:140513378-140513389 chr9:140513324-140513335
2	PBX3	chr9:140512380-140513542	A549	lung:	n/a	n/a
3	MYC	chr9:140512328-140513522	NB4	blood:	n/a	n/a
4	POLR2A	chr9:140512256-140513429	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:140512535-140513629	A549	lung:	n/a	n/a
6	POLR2A	chr9:140511747-140513497	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr9:140512490-140512671	A549	lung:	n/a	n/a
8	POLR2A	chr9:140512535-140513390	A549	lung:	n/a	n/a
9	POLR2A	chr9:140512430-140513612	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr9:140512500-140512650	HRE	kidney:	n/a	n/a
11	CTCF	chr9:140512531-140512643	HepG2	liver:	n/a	n/a
12	CREB1	chr9:140512436-140513530	A549	lung:	n/a	n/a
13	POLR2A	chr9:140512429-140513791	HUVEC	blood vessel:	n/a	n/a
14	SIN3AK20	chr9:140512510-140513523	MCF-7	breast:	n/a	n/a
15	JUND	chr9:140512261-140513595	MCF-7	breast:	n/a	n/a
16	CTCF	chr9:140512480-140512630	HPF	lung:	n/a	n/a
17	CTCF	chr9:140512542-140512581	H1-hESC	embryonic stem cell:	n/a	n/a
18	PML	chr9:140512056-140513602	MCF-7	breast:	n/a	n/a
19	ELF1	chr9:140512334-140513549	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:140512547-140513523	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr9:140511994-140514407	K562	blood:	n/a	n/a
22	BCL3	chr9:140512432-140513462	GM12878	blood:	n/a	n/a
23	POLR2A	chr9:140511772-140513505	Hela-S3	cervix:	n/a	n/a
24	STAT5A	chr9:140512228-140513438	GM12878	blood:	n/a	n/a
25	EBF1	chr9:140512547-140512831	GM12878	blood:	n/a	n/a
26	CTCF	chr9:140512491-140512685	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:140512520-140512670	Hela-S3	cervix:	n/a	n/a
28	JUND	chr9:140512478-140513504	T-47D	breast:	n/a	n/a
29	POLR2A	chr9:140511893-140513619	K562	blood:	n/a	n/a
30	SIN3AK20	chr9:140512104-140513604	MCF-7	breast:	n/a	n/a
31	GATA3	chr9:140512390-140513642	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:140512500-140512663	MCF-7	breast:	n/a	n/a
33	POLR2A	chr9:140512283-140514144	GM18505	blood:	n/a	n/a
34	POLR2A	chr9:140512359-140513473	PFSK-1	brain:	n/a	n/a
35	CTCF	chr9:140512540-140512690	NHEK	skin:	n/a	n/a
36	PBX3	chr9:140512263-140513490	A549	lung:	n/a	n/a
37	POLR2A	chr9:140511888-140513435	GM12891	blood:	n/a	n/a
38	POLR2A	chr9:140512472-140513495	GM12891	blood:	n/a	n/a
39	EP300	chr9:140512501-140513560	T-47D	breast:	n/a	n/a
40	CTCF	chr9:140512480-140512630	RPTEC	kidney:	n/a	n/a
41	NR2F2	chr9:140512526-140513458	K562	blood:	n/a	chr9:140513099-140513114
42	MYC	chr9:140512536-140513615	MCF-7	breast:	n/a	n/a
43	TFAP2A	chr9:140512321-140513520	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr9:140512500-140512650	GM12875	blood:	n/a	n/a
45	POLR2A	chr9:140511766-140513516	ECC-1	luminal epithelium:	n/a	n/a
46	MAFK	chr9:140512548-140513519	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr9:140512460-140512610	GM06990	blood:	n/a	n/a
48	TFAP2C	chr9:140512278-140513520	Hela-S3	cervix:	n/a	n/a
49	MAX	chr9:140512378-140513674	HepG2	liver:	n/a	n/a
50	POLR2A	chr9:140511794-140513539	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:140512513-140512563	GM12891	blood:	n/a
2	chr9:140512513-140512563	MCF-7	breast:	n/a
3	chr9:140512513-140512563	HRPEpiC	eye:	n/a
4	chr9:140512513-140512563	RPTEC	kidney:	n/a
5	chr9:140512513-140512563	HPAEpiC	pulmonary alveolar:	n/a
6	chr9:140512513-140512563	HRE	kidney:	n/a
7	chr9:140512513-140512563	NH-A	brain:	n/a
8	chr9:140512513-140512563	U87	brain:	n/a
9	chr9:140512513-140512563	SAEC	small airway:	n/a
10	chr9:140512513-140512563	HIPEpiC	eye:	n/a
11	chr9:140512513-140512563	HRCEpiC	kidney:	n/a
12	chr9:140512513-140512563	ovcar-3	ovarian:	n/a
13	chr9:140512513-140512563	HCM	heart:	n/a
14	chr9:140512513-140512563	AG09319	gingival:	n/a
15	chr9:140512513-140512563	MCF10A-Er-Src	breast:	n/a
16	chr9:140512513-140512563	NHDF-neo	bronchial:	n/a
17	chr9:140512513-140512563	Hela-S3	cervix:	n/a
18	chr9:140512513-140512563	GM19239	blood:	n/a
19	chr9:140512513-140512563	AG09309	skin:	n/a
20	chr9:140512513-140512563	HUVEC	blood vessel:	n/a
21	chr9:140512513-140512563	GM12892	blood:	n/a
22	chr9:140512513-140512563	AG10803	skin:	n/a
23	chr9:140512513-140512563	T-47D	breast:	n/a
24	chr9:140512513-140512563	HEK293	kidney:	embryo
25	chr9:140512513-140512563	HMEC	breast:	n/a
26	chr9:140512513-140512563	NT2-D1	testis:	n/a
27	chr9:140512513-140512563	PANC-1	pancreas:	n/a
28	chr9:140512513-140512563	HCT-116	colon:	n/a
29	chr9:140512513-140512563	AG04450	lung:	fetal
30	chr9:140512513-140512563	Caco-2	colon:	n/a
31	chr9:140512513-140512563	SK-N-SH_RA	brain:	n/a
32	chr9:140512513-140512563	NHBE	bronchial:	n/a
33	chr9:140512513-140512563	ProgFib	skin:	n/a
34	chr9:140512513-140512563	AoSMC	blood vessel:	n/a
35	chr9:140512513-140512563	GM06990	blood:	n/a
36	chr9:140512513-140512563	AG04449	skin:	fetal
37	chr9:140512513-140512563	SKMC	muscle:	n/a
38	chr9:140512513-140512563	BE2_C	brain:	n/a
39	chr9:140512513-140512563	H1-hESC	embryonic stem cell:	embryo
40	chr9:140512513-140512563	CMK	blood:	n/a
41	chr9:140512513-140512563	PrEC	prostate:	n/a
42	chr9:140512513-140512563	SK-N-SH	brain:	n/a
43	chr9:140512513-140512563	ECC-1	luminal epithelium:	n/a
44	chr9:140512513-140512563	BJ	skin:	n/a
45	chr9:140512513-140512563	HNPCEpiC	eye:	n/a
46	chr9:140512513-140512563	HEEpiC	esophagus:	n/a
47	chr9:140512513-140512563	Jurkat	blood:	n/a
48	chr9:140512513-140512563	A549	lung:	n/a
49	chr9:140512513-140512563	HCF	heart:	n/a
50	chr9:140512513-140512563	GM12878	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140473011..140477060-chr9:140511720..140517022,6	K562	blood:
2	chr9:140445002..140446703-chr9:140512317..140515053,2	MCF-7	breast:
3	chr9:140510252..140513201-chr9:140591330..140593988,2	MCF-7	breast:
4	chr9:140467532..140470216-chr9:140512251..140515096,2	MCF-7	breast:
5	chr9:140481390..140486340-chr9:140509681..140515296,7	K562	blood:
6	chr9:140469283..140475998-chr9:140510945..140517022,12	K562	blood:
7	chr14:96967956..96969589-chr9:140512244..140513858,2	MCF-7	breast:
8	chr9:140172197..140174221-chr9:140511916..140514176,2	K562	blood:
9	chr9:140470852..140475352-chr9:140511735..140515041,9	MCF-7	breast:
10	chr9:140511122..140512699-chr9:140559780..140561959,2	MCF-7	breast:
11	chr9:140481624..140488545-chr9:140511605..140516057,16	MCF-7	breast:
12	chr9:140481402..140486615-chr9:140511490..140514947,5	K562	blood:

No data

Variant related genes	Relation type
EHMT1	TF binding region
EHMT1	CpG island
ENSG00000182154	Chromatin interaction
ENSG00000148399	Chromatin interaction
ENSG00000165724	Chromatin interaction
ENSG00000181090	Chromatin interaction
ENSG00000260806	Chromatin interaction
ENSG00000198113	Chromatin interaction
ENSG00000090060	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10110	0.83[CEU][hapmap];0.94[CHD][hapmap];0.96[MEX][hapmap]
rs10116052	0.85[AMR][1000 genomes]
rs10120250	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10732688	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs10780179	0.85[CHB][hapmap]
rs10780180	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10780183	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs10780184	0.85[CHB][hapmap]
rs10867031	0.83[MEX][hapmap]
rs10867050	0.85[CHB][hapmap]
rs10867051	0.85[CHB][hapmap]
rs10867057	0.89[JPT][hapmap]
rs1105221	0.85[CHB][hapmap];0.94[CHD][hapmap];0.92[MEX][hapmap]
rs11137135	0.88[CEU][hapmap];0.94[CHD][hapmap];0.96[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11137136	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11137140	0.85[CHB][hapmap]
rs11137141	0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap]
rs11137148	0.80[ASN][1000 genomes]
rs11137155	0.94[ASN][1000 genomes]
rs11137156	0.96[ASN][1000 genomes]
rs11137158	0.85[CHB][hapmap]
rs11137163	0.85[CHB][hapmap];0.95[CHD][hapmap]
rs11137167	0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap]
rs11137169	0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap]
rs12683290	0.88[CEU][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12686658	1.00[JPT][hapmap]
rs13287726	0.94[ASN][1000 genomes]
rs13296028	0.85[CHB][hapmap];0.89[CHD][hapmap]
rs17496354	0.85[CHB][hapmap]
rs1776776	0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1891628	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2094623	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2257839	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2282020	0.94[ASN][1000 genomes]
rs2297004	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2297005	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2297006	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2480116	0.94[ASN][1000 genomes]
rs2488588	0.88[ASN][1000 genomes]
rs2488595	0.81[AMR][1000 genomes]
rs2501550	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501552	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2501553	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2501554	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2501556	0.85[CHB][hapmap]
rs2501559	0.85[CHB][hapmap]
rs2501566	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2501567	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs2501568	0.85[CHB][hapmap]
rs2987618	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2987621	0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap]
rs34249205	0.92[ASN][1000 genomes]
rs35374891	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3763610	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3812497	0.88[JPT][hapmap]
rs3849856	0.85[CHB][hapmap]
rs3895387	0.85[CHB][hapmap]
rs4246177	0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs4962227	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs4979657	0.85[CHB][hapmap]
rs67089520	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67499662	0.94[ASN][1000 genomes]
rs67789600	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7024179	0.85[CHB][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap]
rs7043932	0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71510836	0.94[ASN][1000 genomes]
rs7389975	0.82[AMR][1000 genomes]
rs821313	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs821317	0.81[AMR][1000 genomes]
rs863701	0.88[CEU][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs864747	0.82[AMR][1000 genomes]
rs9410034	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9410111	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9410112	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs950078	0.88[CEU][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs975978	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs9774907	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv894499	chr9:139810595-140734161	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv531664	chr9:140110329-140725056	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	275 gene(s)	inside rSNPs	diseases
4	nsv531654	chr9:140110329-141033187	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	281 gene(s)	inside rSNPs	diseases
5	nsv1047563	chr9:140219047-140560852	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv540357	chr9:140219047-140560852	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv531602	chr9:140240417-140535223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	96 gene(s)	inside rSNPs	diseases
8	nsv932633	chr9:140240417-141053535	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv1035524	chr9:140251014-140751633	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
10	nsv1053628	chr9:140260666-141005637	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
11	nsv534215	chr9:140286134-141008915	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	n/a
12	nsv1035388	chr9:140306746-140654768	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	96 gene(s)	inside rSNPs	n/a
13	nsv831762	chr9:140338779-140514107	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	n/a
14	nsv1039672	chr9:140343466-140707505	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	n/a
15	nsv540358	chr9:140343466-140707505	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	n/a
16	nsv1041512	chr9:140350404-140612859	Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	n/a
17	nsv540359	chr9:140350404-140612859	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	n/a
18	nsv616022	chr9:140372570-140523429	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	n/a
19	nsv616023	chr9:140372570-140602887	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	n/a
20	nsv531603	chr9:140378700-140590977	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	n/a
21	nsv531665	chr9:140378700-141073897	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	n/a
22	nsv868924	chr9:140407572-141053525	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	n/a
23	nsv1039933	chr9:140408112-141005637	Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	n/a
24	nsv531666	chr9:140409395-141015925	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	n/a
25	nsv616024	chr9:140414410-140536098	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	n/a
26	nsv831763	chr9:140439831-140614021	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	n/a
27	nsv540364	chr9:140447860-140514807	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	n/a
28	esv3398333	chr9:140451462-140814795	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	n/a
29	nsv1052036	chr9:140452641-141018985	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	n/a
30	nsv540365	chr9:140452641-141018985	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	n/a
31	nsv949702	chr9:140466816-141027939	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	n/a
32	nsv531667	chr9:140468821-140936261	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	n/a
33	nsv894665	chr9:140469600-140523429	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	n/a
34	nsv894666	chr9:140470564-140518576	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	n/a
35	nsv894667	chr9:140473729-140518576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	n/a
36	nsv894668	chr9:140477812-140518576	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	n/a
37	nsv531668	chr9:140492807-140986221	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	n/a
38	nsv894669	chr9:140498789-140518576	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	n/a
39	nsv894670	chr9:140503095-140526439	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	n/a
40	nsv894671	chr9:140505476-140519654	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	n/a
41	nsv894672	chr9:140506209-140518576	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	n/a
42	nsv894673	chr9:140507688-140518576	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	n/a
43	nsv894674	chr9:140508222-140518576	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a
44	nsv894675	chr9:140508222-140519654	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1045777	ARRDC1	cis	cerebellum	SCAN
rs1045777	C9orf37	cis	cerebellum	SCAN
rs1045777	LHX1	trans	parietal	SCAN
rs1045777	C9orf173	cis	cerebellum	SCAN
rs1045777	ENTPD2	cis	cerebellum	SCAN
rs1045777	PNPLA7	cis	cerebellum	SCAN
rs1045777	EHMT1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140511200-140512600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:140511800-140512600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr9:140511800-140512600	Flanking Active TSS	Fetal Brain Female	brain
4	chr9:140511800-140512800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:140511800-140512800	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr9:140512000-140512600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr9:140512000-140512600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:140512000-140512600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:140512000-140512600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:140512000-140512600	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr9:140512000-140512600	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr9:140512000-140512600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr9:140512000-140512600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr9:140512000-140512600	Flanking Active TSS	Thymus	Thymus
15	chr9:140512000-140512600	Flanking Active TSS	GM12878-XiMat	blood
16	chr9:140512000-140512600	Flanking Active TSS	HepG2	liver
17	chr9:140512000-140512600	Flanking Active TSS	HSMM	muscle
18	chr9:140512000-140512600	Flanking Active TSS	HSMMtube	muscle
19	chr9:140512000-140512600	Flanking Active TSS	Osteobl	bone
20	chr9:140512000-140512800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:140512000-140512800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr9:140512000-140512800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:140512000-140512800	Flanking Active TSS	Liver	Liver
24	chr9:140512000-140512800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:140512000-140512800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr9:140512000-140512800	Flanking Active TSS	Right Ventricle	heart
27	chr9:140512000-140512800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr9:140512000-140512800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr9:140512000-140512800	Flanking Active TSS	NH-A	brain
30	chr9:140512000-140513000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:140512000-140513000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr9:140512000-140513000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:140512000-140513000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:140512000-140513000	Flanking Active TSS	Colonic Mucosa	Colon
35	chr9:140512000-140513000	Flanking Active TSS	Fetal Brain Male	brain
36	chr9:140512000-140513000	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr9:140512000-140513000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr9:140512000-140513000	Transcr. at gene 5' and 3'	NHEK	skin
39	chr9:140512000-140513200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:140512000-140513200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:140512000-140514400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:140512200-140512600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:140512200-140512600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:140512200-140512600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:140512200-140512600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr9:140512200-140512600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr9:140512200-140512600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr9:140512200-140512600	Flanking Active TSS	Esophagus	oesophagus
49	chr9:140512200-140512600	Flanking Active TSS	Fetal Heart	heart
50	chr9:140512200-140512600	Flanking Active TSS	Left Ventricle	heart

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