Variant report

Variant	rs7040970
Chromosome Location	chr9:139859013-139859014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr9:139858564-139859191	Hela-S3	cervix:	n/a	chr9:139858866-139858880
2	RFX5	chr9:139858781-139859107	Hela-S3	cervix:	n/a	n/a
3	GTF2F1	chr9:139858818-139859098	Hela-S3	cervix:	n/a	n/a
4	NR2F2	chr9:139858525-139859218	MCF-7	breast:	n/a	n/a
5	POLR2A	chr9:139858630-139859195	Hela-S3	cervix:	n/a	n/a
6	MAX	chr9:139858705-139859090	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr9:139858665-139859177	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr9:139858724-139859113	Hela-S3	cervix:	n/a	chr9:139859027-139859034
9	MAX	chr9:139858745-139859054	K562	blood:	n/a	n/a
10	TBP	chr9:139858773-139859032	K562	blood:	n/a	n/a
11	REST	chr9:139858471-139859042	K562	blood:	n/a	chr9:139858684-139858693 chr9:139858850-139858863 chr9:139858739-139858752
12	MAX	chr9:139858565-139859197	HCT-116	colon:	n/a	n/a
13	CTCF	chr9:139858880-139859030	NHEK	skin:	n/a	n/a
14	POLR2A	chr9:139858741-139859110	K562	blood:	n/a	n/a
15	MAX	chr9:139858671-139859056	K562	blood:	n/a	n/a
16	ELF1	chr9:139858758-139859100	K562	blood:	n/a	n/a
17	NR2F2	chr9:139858683-139859107	K562	blood:	n/a	n/a
18	MAX	chr9:139858629-139859139	MCF-7	breast:	n/a	n/a
19	MAX	chr9:139858626-139859187	A549	lung:	n/a	n/a
20	EGR1	chr9:139858627-139859137	MCF-7	breast:	n/a	chr9:139858891-139858904 chr9:139858891-139858904 chr9:139858891-139858904
21	TFAP2C	chr9:139858568-139859094	Hela-S3	cervix:	n/a	chr9:139858832-139858847
22	JUND	chr9:139858775-139859038	K562	blood:	n/a	n/a
23	CCNT2	chr9:139858752-139859086	K562	blood:	n/a	chr9:139858889-139858898
24	TCF7L2	chr9:139858662-139859074	HCT-116	colon:	n/a	chr9:139858866-139858880
25	TCF7L2	chr9:139858615-139859090	MCF-7	breast:	n/a	chr9:139858866-139858880
26	MYC	chr9:139858756-139859057	K562	blood:	n/a	n/a
27	POLR2A	chr9:139858820-139859028	MCF-7	breast:	n/a	n/a
28	EGR1	chr9:139858730-139859096	K562	blood:	n/a	chr9:139858891-139858904 chr9:139858891-139858904 chr9:139858891-139858904
29	CHD2	chr9:139858694-139859071	Hela-S3	cervix:	n/a	n/a
30	ZNF143	chr9:139858948-139859092	Hela-S3	cervix:	n/a	n/a
31	MAX	chr9:139858450-139859155	K562	blood:	n/a	n/a
32	MYC	chr9:139858663-139859080	K562	blood:	n/a	n/a
33	SMARCB1	chr9:139858590-139859265	Hela-S3	cervix:	n/a	n/a
34	UBTF	chr9:139858804-139859107	K562	blood:	n/a	n/a
35	RCOR1	chr9:139858759-139859097	K562	blood:	n/a	n/a
36	EGR1	chr9:139858711-139859057	K562	blood:	n/a	chr9:139858891-139858904 chr9:139858891-139858904 chr9:139858891-139858904
37	HMGN3	chr9:139858717-139859039	K562	blood:	n/a	n/a
38	MXI1	chr9:139858802-139859074	Hela-S3	cervix:	n/a	n/a
39	MAX	chr9:139858569-139859154	MCF-7	breast:	n/a	n/a
40	TBL1XR1	chr9:139858802-139859124	K562	blood:	n/a	n/a
41	POLR2A	chr9:139858682-139859123	MCF-7	breast:	n/a	n/a
42	MYC	chr9:139858578-139859134	MCF-7	breast:	n/a	n/a
43	POLR2A	chr9:139858686-139859223	MCF-7	breast:	n/a	n/a
44	ZKSCAN1	chr9:139858858-139859032	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr9:139858759-139859099	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr9:139858778-139859015	K562	blood:	n/a	n/a
47	ELK1	chr9:139858826-139859143	Hela-S3	cervix:	n/a	n/a
48	MYC	chr9:139858689-139859082	MCF-7	breast:	n/a	n/a
49	CBX3	chr9:139858750-139859077	K562	blood:	n/a	n/a
50	RAD21	chr9:139858784-139859058	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:139857620..139860389-chr9:139862086..139864221,3	MCF-7	breast:
2	chr9:139845596..139853954-chr9:139854688..139861084,10	K562	blood:
3	chr9:139857666..139860662-chr9:139923222..139925390,3	K562	blood:
4	chr9:139854133..139855882-chr9:139858175..139860493,2	MCF-7	breast:
5	chr9:139856797..139861379-chr9:139867698..139872892,7	K562	blood:
6	chr9:139853786..139856538-chr9:139857353..139861977,5	K562	blood:
7	chr9:139839312..139841565-chr9:139858162..139860949,2	K562	blood:
8	chr9:139850061..139852190-chr9:139857168..139859196,2	MCF-7	breast:
9	chr9:139842616..139844727-chr9:139858892..139860577,2	MCF-7	breast:
10	chr9:139821142..139822888-chr9:139858248..139860855,2	K562	blood:
11	chr9:139854671..139856508-chr9:139856850..139859518,3	K562	blood:
12	chr9:139857596..139860333-chr9:139872704..139876540,3	MCF-7	breast:
13	chr9:139856986..139859547-chr9:139885105..139886814,2	MCF-7	breast:

Variant related genes	Relation type
C9orf141	TF binding region
ENSG00000198454	Chromatin interaction
ENSG00000214402	Chromatin interaction
ENSG00000238268	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000107317	Chromatin interaction
ENSG00000184925	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10781528	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs11145945	0.81[ASN][1000 genomes]
rs11145946	0.81[ASN][1000 genomes]
rs11145947	0.81[ASN][1000 genomes]
rs11145948	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11145949	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11145951	0.82[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11145954	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11790360	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12379667	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13289286	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13292961	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13302464	0.81[AMR][1000 genomes]
rs2271868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2271869	0.95[ASN][1000 genomes]
rs2386136	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4514077	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs4542025	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4880078	0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs57024841	0.90[ASN][1000 genomes]
rs7019538	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7868669	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs868102	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.98[ASN][1000 genomes]
rs885070	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908829	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs908833	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.98[ASN][1000 genomes]
rs908837	0.81[ASN][1000 genomes]
rs908839	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
2	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
3	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
4	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
5	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
6	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
7	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
8	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
9	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
10	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	205 gene(s)	inside rSNPs	diseases
11	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
12	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
13	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
14	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
15	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
16	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	417 gene(s)	inside rSNPs	diseases
17	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	126 gene(s)	inside rSNPs	diseases
18	nsv894461	chr9:139683224-139860264	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers 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 miRNA	97 gene(s)	inside rSNPs	diseases
19	nsv894462	chr9:139683224-140274164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	353 gene(s)	inside rSNPs	diseases
20	nsv894463	chr9:139683224-140411547	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
21	nsv524322	chr9:139690144-140376668	Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	371 gene(s)	inside rSNPs	diseases
22	nsv894468	chr9:139693992-139860264	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
23	nsv894469	chr9:139693992-140118448	Bivalent Enhancer Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
24	nsv894470	chr9:139693992-140339091	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
25	nsv894474	chr9:139694521-140432318	Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
26	nsv540352	chr9:139695108-140351178	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
27	nsv894482	chr9:139709976-139860264	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	78 gene(s)	inside rSNPs	diseases
28	nsv894483	chr9:139709976-139963091	Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	119 gene(s)	inside rSNPs	diseases
29	nsv894484	chr9:139709976-140382705	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	360 gene(s)	inside rSNPs	diseases
30	nsv894485	chr9:139709976-140408904	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
31	nsv894486	chr9:139725120-140382705	Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
32	nsv894487	chr9:139725120-140449582	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
33	nsv1047479	chr9:139754184-139869440	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
34	nsv540353	chr9:139754184-139869440	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
35	esv1803771	chr9:139776400-140274255	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
36	nsv894498	chr9:139810595-140339091	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	324 gene(s)	inside rSNPs	diseases
37	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
38	esv1823828	chr9:139820363-140023694	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
39	esv1822764	chr9:139822266-140202692	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	313 gene(s)	inside rSNPs	diseases
40	nsv894500	chr9:139823670-139930945	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
41	nsv894501	chr9:139823670-140400275	Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
42	nsv894502	chr9:139823670-140487108	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
43	nsv894503	chr9:139830940-139987350	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
44	esv1834381	chr9:139834195-140031290	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	125 gene(s)	inside rSNPs	diseases
45	esv1823555	chr9:139834714-140362439	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
46	nsv894506	chr9:139841512-140143801	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
47	nsv615988	chr9:139847481-139869914	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7040970	RP11-229P13.19	cis	Whole Blood	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139845200-139860200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:139845200-139860400	Weak transcription	Right Atrium	heart
3	chr9:139845400-139860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:139846200-139860200	Weak transcription	Liver	Liver
5	chr9:139852000-139862000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:139852200-139860200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr9:139852400-139860200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:139853000-139860200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:139853200-139860600	Enhancers	Fetal Thymus	thymus
10	chr9:139855200-139859400	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:139855200-139861000	Enhancers	Spleen	Spleen
12	chr9:139855400-139860400	Enhancers	Brain Angular Gyrus	brain
13	chr9:139856200-139860200	Weak transcription	Primary T cells from cord blood	blood
14	chr9:139856800-139861800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr9:139857000-139859600	Enhancers	Right Ventricle	heart
16	chr9:139857000-139859800	Enhancers	Placenta	Placenta
17	chr9:139857200-139859200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr9:139857200-139859200	Enhancers	Fetal Muscle Leg	muscle
19	chr9:139857400-139859200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:139857600-139859400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:139857600-139859400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr9:139857600-139860200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr9:139857800-139859200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:139857800-139860400	Weak transcription	Fetal Heart	heart
25	chr9:139858000-139860200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr9:139858000-139860400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:139858200-139859200	Weak transcription	Thymus	Thymus
28	chr9:139858200-139860200	Weak transcription	Brain Substantia Nigra	brain
29	chr9:139858400-139859400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:139858400-139859600	Enhancers	Left Ventricle	heart
31	chr9:139858400-139860200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:139858400-139860400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:139858400-139860400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:139858600-139859200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:139858600-139859200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:139858600-139859200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:139858600-139859200	Enhancers	HMEC	breast
38	chr9:139858600-139859400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:139858600-139859400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:139858600-139859400	Enhancers	Colonic Mucosa	Colon
41	chr9:139858600-139859400	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr9:139858600-139859400	Enhancers	Lung	lung
43	chr9:139858600-139859400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr9:139858600-139859400	Enhancers	A549	lung
45	chr9:139858600-139859600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr9:139858600-139859600	Enhancers	Fetal Intestine Small	intestine
47	chr9:139858600-139859600	Enhancers	Gastric	stomach
48	chr9:139858600-139859600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr9:139858600-139859600	Flanking Active TSS	Hela-S3	cervix
50	chr9:139858600-139859600	Flanking Active TSS	K562	blood

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