Variant report

Variant	rs11264349
Chromosome Location	chr1:155248113-155248114
allele	A/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	REST	chr1:155247935-155248414	PFSK-1	brain:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
2	SP1	chr1:155247963-155248603	H1-hESC	embryonic stem cell:	n/a	chr1:155248143-155248157 chr1:155248146-155248158 chr1:155248147-155248157 chr1:155248296-155248308 chr1:155248296-155248307 chr1:155248297-155248307 chr1:155248146-155248158 chr1:155248148-155248157 chr1:155248297-155248306 chr1:155248298-155248307 chr1:155248297-155248307 chr1:155248248-155248259 chr1:155248296-155248308 chr1:155248293-155248307 chr1:155247978-155247992 chr1:155248147-155248156
3	MXI1	chr1:155248014-155248195	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr1:155247979-155248135	K562	blood:	n/a	n/a
5	MAX	chr1:155247931-155248568	H1-hESC	embryonic stem cell:	n/a	chr1:155248291-155248301
6	EGR1	chr1:155247836-155248578	MCF-7	breast:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
7	TCF12	chr1:155248026-155248404	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr1:155246881-155248392	K562	blood:	n/a	chr1:155247370-155247381
9	REST	chr1:155247522-155248589	MCF-7	breast:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
10	CHD2	chr1:155248093-155248501	Hela-S3	cervix:	n/a	n/a
11	REST	chr1:155246965-155248606	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
12	MAZ	chr1:155247911-155248402	HepG2	liver:	n/a	chr1:155248291-155248301
13	MXI1	chr1:155247991-155248386	HepG2	liver:	n/a	n/a
14	HDAC2	chr1:155248019-155248389	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr1:155248039-155248476	H1-hESC	embryonic stem cell:	n/a	chr1:155248063-155248071 chr1:155248147-155248156
16	SIN3AK20	chr1:155248025-155248306	PFSK-1	brain:	n/a	n/a
17	CTCF	chr1:155246713-155248704	SK-N-SH	brain:	n/a	chr1:155248141-155248154
18	EGR1	chr1:155247936-155248631	HCT-116	colon:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
19	REST	chr1:155247893-155248440	SK-N-SH	brain:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
20	MXI1	chr1:155246229-155248789	IMR90	lung:	n/a	n/a
21	MAZ	chr1:155246322-155248791	IMR90	lung:	n/a	chr1:155248291-155248301
22	REST	chr1:155248046-155248305	SK-N-SH	brain:	n/a	n/a
23	MAX	chr1:155248011-155248371	K562	blood:	n/a	chr1:155248291-155248301
24	SIN3AK20	chr1:155248044-155248283	HepG2	liver:	n/a	n/a
25	REST	chr1:155247014-155248706	A549	lung:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
26	ETS1	chr1:155247965-155248229	K562	blood:	n/a	n/a
27	REST	chr1:155248067-155248264	PANC-1	pancreas:	n/a	n/a
28	REST	chr1:155247919-155248433	HepG2	liver:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
29	TCF12	chr1:155247937-155248403	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr1:155247942-155248454	K562	blood:	n/a	n/a
31	CTCF	chr1:155247928-155248502	H1-hESC	embryonic stem cell:	n/a	chr1:155248141-155248154
32	REST	chr1:155246876-155248750	K562	blood:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
33	RAD21	chr1:155248105-155248560	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3AK20	chr1:155248026-155248323	K562	blood:	n/a	n/a
35	MAX	chr1:155247941-155248493	K562	blood:	n/a	chr1:155248291-155248301
36	SIN3AK20	chr1:155247779-155248365	K562	blood:	n/a	n/a
37	REST	chr1:155247004-155248794	HL-60	blood:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
38	EGR1	chr1:155247963-155248407	K562	blood:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
39	REST	chr1:155247669-155248664	PANC-1	pancreas:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
40	EGR1	chr1:155248032-155248325	GM12878	blood:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
41	SMC3	chr1:155246444-155248773	SK-N-SH	brain:	n/a	n/a
42	ELF1	chr1:155246907-155248371	GM12878	blood:	n/a	chr1:155247651-155247664 chr1:155247918-155247929
43	POLR2A	chr1:155246852-155248928	H1-neurons	neurons:	n/a	n/a
44	EGR1	chr1:155248004-155248371	GM12878	blood:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
45	EGR1	chr1:155247907-155248392	H1-hESC	embryonic stem cell:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
46	MTA3	chr1:155247968-155248650	GM12878	blood:	n/a	n/a
47	REST	chr1:155247973-155248470	GM12878	blood:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
48	REST	chr1:155246952-155249072	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
49	MAX	chr1:155248098-155248300	K562	blood:	n/a	n/a
50	REST	chr1:155247815-155248539	HL-60	blood:	n/a	chr1:155248390-155248399 chr1:155248294-155248307

No.	Distal block	Cell Line	Cell type
1	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
2	chr1:155246729..155248789-chr1:155285548..155288546,2	K562	blood:
3	chr1:155213691..155215819-chr1:155247024..155248547,2	MCF-7	breast:
4	chr1:155246042..155249168-chr1:155274467..155279979,9	MCF-7	breast:
5	chr1:155245586..155248343-chr1:155278550..155280734,4	K562	blood:
6	chr1:155245586..155250751-chr1:155275814..155280484,11	K562	blood:
7	chr1:155246581..155249773-chr1:155532192..155535114,5	MCF-7	breast:
8	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
9	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
10	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
11	chr1:155246820..155248691-chr1:155292451..155293728,14	MCF-7	breast:
12	chr1:155245052..155250020-chr1:155276306..155280611,10	MCF-7	breast:
13	chr1:155163753..155165613-chr1:155247738..155249904,2	K562	blood:

Variant related genes	Relation type
CLK2	TF binding region
HCN3	TF binding region
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000160752	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10128085	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1045253	0.82[ASN][1000 genomes]
rs1046188	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1052176	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052177	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076556	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1078699	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10796940	0.82[ASN][1000 genomes]
rs10796941	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10908459	0.84[ASN][1000 genomes]
rs10908461	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10908463	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11264343	0.82[ASN][1000 genomes]
rs11264345	0.83[ASN][1000 genomes]
rs11264346	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264347	0.82[EUR][1000 genomes]
rs11264348	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264351	0.90[ASN][1000 genomes]
rs11264352	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264353	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264354	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264355	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264357	0.84[EUR][1000 genomes]
rs11264358	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11264359	0.86[EUR][1000 genomes]
rs11264361	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1142287	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11577338	0.97[ASN][1000 genomes]
rs12032720	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12034326	0.85[ASN][1000 genomes]
rs12042020	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044063	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12049375	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12067675	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12407919	0.82[ASN][1000 genomes]
rs12563994	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12723761	0.82[ASN][1000 genomes]
rs12724449	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12732972	0.84[ASN][1000 genomes]
rs12748155	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12749306	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546818	0.91[ASN][1000 genomes]
rs1800438	0.83[ASN][1000 genomes]
rs1800442	0.80[ASN][1000 genomes]
rs1807042	0.87[ASN][1000 genomes]
rs2009578	0.83[ASN][1000 genomes]
rs2071053	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072647	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2075566	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075569	0.83[ASN][1000 genomes]
rs2236863	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236864	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242576	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242577	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2297480	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2361536	0.89[ASN][1000 genomes]
rs2361543	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020781	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34906309	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3754485	0.83[ASN][1000 genomes]
rs3762272	0.87[ASN][1000 genomes]
rs3768566	0.82[ASN][1000 genomes]
rs3814318	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814319	0.93[ASN][1000 genomes]
rs4043	0.82[ASN][1000 genomes]
rs4620533	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56310840	0.82[ASN][1000 genomes]
rs59062514	0.86[ASN][1000 genomes]
rs59352002	0.82[ASN][1000 genomes]
rs6672284	0.87[EUR][1000 genomes]
rs734073	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs734074	0.89[ASN][1000 genomes]
rs741756	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7520184	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7524950	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7534795	0.85[EUR][1000 genomes]
rs7543234	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549276	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554780	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs762488	0.83[ASN][1000 genomes]
rs8177968	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8847	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932972	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9628662	0.83[ASN][1000 genomes]
rs9729564	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	575 gene(s)	inside rSNPs	diseases
2	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	434 gene(s)	inside rSNPs	diseases
3	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	452 gene(s)	inside rSNPs	diseases
4	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh 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	452 gene(s)	inside rSNPs	diseases
5	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	407 gene(s)	inside rSNPs	diseases
7	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
8	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
12	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
13	esv1832799	chr1:155226846-155261543	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases
14	esv17013	chr1:155227059-155262674	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	esv1797617	chr1:155228592-155264270	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	esv1829849	chr1:155228592-155264270	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	34 gene(s)	inside rSNPs	diseases
17	esv1832093	chr1:155230444-155253599	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
18	esv1826500	chr1:155230444-155261567	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
19	esv1831471	chr1:155230444-155261567	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	esv1826924	chr1:155230444-155271566	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	31 gene(s)	inside rSNPs	diseases
21	esv1830821	chr1:155230610-155265661	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	esv1831955	chr1:155230610-155265661	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	esv1826761	chr1:155230622-155262613	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	esv1826280	chr1:155230622-155262851	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	esv1832100	chr1:155230622-155269896	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
26	esv1830793	chr1:155230644-155261367	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
27	esv1827811	chr1:155230644-155271366	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
28	esv1827924	chr1:155230644-155271366	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
29	esv1826306	chr1:155232074-155261777	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
30	esv1832706	chr1:155232647-155261567	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
31	esv1831149	chr1:155233501-155252122	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
32	esv1829673	chr1:155235493-155261280	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
33	esv1831963	chr1:155239116-155267459	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
34	esv1830532	chr1:155239128-155267471	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11264349	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs11264349	PKLR	cis	Nerve Tibial	GTEx
rs11264349	GBA	cis	Esophagus Mucosa	GTEx
rs11264349	THBS3	cis	Whole Blood	GTEx
rs11264349	HCN3	cis	Nerve Tibial	GTEx
rs11264349	GBAP1	cis	Artery Tibial	GTEx
rs11264349	FDPS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155246400-155248200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:155246600-155248200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr1:155246600-155248200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:155246600-155248200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:155246600-155248200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:155246600-155248200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:155246600-155248400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:155246600-155248600	Flanking Active TSS	Dnd41	blood
9	chr1:155246800-155248200	Active TSS	Esophagus	oesophagus
10	chr1:155246800-155248200	Active TSS	Fetal Brain Male	brain
11	chr1:155246800-155248200	Flanking Active TSS	Fetal Thymus	thymus
12	chr1:155246800-155248400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:155246800-155248400	Active TSS	HSMMtube	muscle
14	chr1:155247000-155248200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:155247000-155248200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:155247000-155248200	Active TSS	NHDF-Ad	bronchial
17	chr1:155247000-155248400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:155247000-155248400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr1:155247000-155248400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:155247000-155248400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:155247000-155248400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:155247000-155248400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:155247000-155248400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:155247000-155248400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:155247000-155248400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:155247000-155248400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:155247000-155248400	Active TSS	Brain Angular Gyrus	brain
28	chr1:155247000-155248400	Active TSS	Duodenum Mucosa	Duodenum
29	chr1:155247000-155248400	Active TSS	Fetal Brain Female	brain
30	chr1:155247000-155248400	Active TSS	Fetal Kidney	kidney
31	chr1:155247000-155248400	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:155247000-155248400	Active TSS	A549	lung
33	chr1:155247000-155249000	Active TSS	Brain Anterior Caudate	brain
34	chr1:155247000-155249000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:155247200-155248200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:155247200-155248200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:155247200-155248200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:155247200-155248200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:155247200-155248200	Flanking Active TSS	Liver	Liver
40	chr1:155247200-155248200	Active TSS	Fetal Intestine Small	intestine
41	chr1:155247200-155248200	Flanking Active TSS	NHLF	lung
42	chr1:155247200-155248400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:155247200-155248400	Active TSS	Fetal Intestine Large	intestine
44	chr1:155247200-155248400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:155247200-155248600	Flanking Active TSS	Colonic Mucosa	Colon
46	chr1:155247200-155249400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:155247400-155248200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:155247400-155248200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:155247400-155248200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr1:155247400-155248200	Flanking Active TSS	Fetal Muscle Trunk	muscle

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