Variant report

Variant	rs2301721
Chromosome Location	chr7:27196113-27196114
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	POLR2A	chr7:27195536-27196536	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr7:27194578-27196550	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:27195561-27196842	HEK293	kidney:	n/a	n/a
4	POLR2A	chr7:27194513-27197277	HUVEC	blood vessel:	n/a	n/a
5	USF1	chr7:27196037-27196519	H1-hESC	embryonic stem cell:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
6	SUZ12	chr7:27192795-27199379	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr7:27196018-27196535	A549	lung:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
8	USF2	chr7:27196047-27196494	Hela-S3	cervix:	n/a	chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196291-27196302 chr7:27196356-27196372 chr7:27196302-27196313
9	TCF7L2	chr7:27195533-27196412	HCT-116	colon:	n/a	n/a
10	POLR2A	chr7:27195446-27196546	Hela-S3	cervix:	n/a	n/a
11	ATF3	chr7:27195983-27196444	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:27195502-27196830	HCT-116	colon:	n/a	n/a
13	TCF12	chr7:27195438-27196667	ECC-1	luminal epithelium:	n/a	chr7:27196482-27196489
14	TCF12	chr7:27195572-27196272	A549	lung:	n/a	n/a
15	MAX	chr7:27195511-27196553	ECC-1	luminal epithelium:	n/a	chr7:27196292-27196301 chr7:27196291-27196302 chr7:27195650-27195659
16	USF1	chr7:27195941-27196485	A549	lung:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
17	USF1	chr7:27195393-27196736	HCT-116	colon:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
18	POLR2A	chr7:27195051-27196830	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:27195491-27196519	HUVEC	blood vessel:	n/a	n/a
20	TAF1	chr7:27195396-27196718	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr7:27195711-27196476	A549	lung:	n/a	chr7:27196292-27196301 chr7:27196291-27196302
22	MAX	chr7:27196088-27196489	H1-hESC	embryonic stem cell:	n/a	chr7:27196292-27196301 chr7:27196291-27196302
23	GTF2F1	chr7:27195485-27196435	Hela-S3	cervix:	n/a	n/a
24	USF1	chr7:27195394-27196651	ECC-1	luminal epithelium:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
25	MAX	chr7:27195362-27196963	HCT-116	colon:	n/a	chr7:27196292-27196301 chr7:27196291-27196302 chr7:27195650-27195659
26	POLR2A	chr7:27195451-27196522	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:27194613-27196534	HUVEC	blood vessel:	n/a	n/a
28	HA-E2F1	chr7:27195558-27196172	Hela-S3	cervix:	n/a	chr7:27195747-27195756
29	ZBTB7A	chr7:27196108-27196768	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr7:27196102-27196454	H1-hESC	embryonic stem cell:	n/a	chr7:27196292-27196301 chr7:27196291-27196302
31	MAX	chr7:27195567-27196533	A549	lung:	n/a	chr7:27196292-27196301 chr7:27196291-27196302 chr7:27195650-27195659
32	TBP	chr7:27195340-27196426	Hela-S3	cervix:	n/a	n/a
33	SMARCB1	chr7:27194507-27196466	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr7:27195611-27196431	Hela-S3	cervix:	n/a	n/a
35	EP300	chr7:27195535-27196618	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr7:27195502-27196531	HCT-116	colon:	n/a	n/a
37	E2F6	chr7:27195561-27196501	H1-hESC	embryonic stem cell:	n/a	chr7:27195747-27195756
38	USF1	chr7:27195525-27196694	HCT-116	colon:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
39	RCOR1	chr7:27195512-27196475	Hela-S3	cervix:	n/a	n/a
40	USF1	chr7:27196113-27196457	SK-N-SH	brain:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302
41	POLR2A	chr7:27196098-27196390	ProgFib	skin:	n/a	n/a
42	TAF1	chr7:27195407-27196560	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr7:27195492-27196502	Hela-S3	cervix:	n/a	n/a
44	USF2	chr7:27196097-27196502	H1-hESC	embryonic stem cell:	n/a	chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196291-27196302 chr7:27196356-27196372 chr7:27196302-27196313
45	SP1	chr7:27196104-27196519	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F6	chr7:27195548-27196474	A549	lung:	n/a	chr7:27195747-27195756
47	ATF3	chr7:27196083-27196467	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:27195507-27196520	HCT-116	colon:	n/a	n/a
49	ATF3	chr7:27196054-27196432	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr7:27195431-27196558	ECC-1	luminal epithelium:	n/a	chr7:27196303-27196314 chr7:27196290-27196303 chr7:27196292-27196301 chr7:27196293-27196302 chr7:27196292-27196301 chr7:27196356-27196372 chr7:27196291-27196302

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27194885..27197425-chr7:27205763..27208498,2	K562	blood:

Variant related genes	Relation type
HOXA3	TF binding region
ENSG00000273433	TF binding region
HOXA7	TF binding region
ENSG00000270182	TF binding region
ENSG00000272801	TF binding region
ENSG00000253187	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10085570	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10238095	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10246712	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11564055	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11762730	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11983200	0.92[JPT][hapmap]
rs12530948	0.87[ASN][1000 genomes]
rs12533947	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap]
rs12666919	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12666926	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1548497	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs1725074	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs17449108	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs17471485	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs17471520	0.91[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1801085	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs1859166	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2107063	0.82[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2301720	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2428432	0.91[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap]
rs2428433	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2428434	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2465275	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap]
rs2465276	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap]
rs3735530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801320	0.81[ASN][1000 genomes]
rs3807597	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3823764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4722657	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs4722659	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs4722666	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6461985	0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6461987	0.91[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs68021164	0.84[ASN][1000 genomes]
rs6948297	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6957209	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6962314	0.82[ASN][1000 genomes]
rs6969780	0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6973182	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6976129	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs73071548	0.81[ASN][1000 genomes]
rs73071550	0.81[ASN][1000 genomes]
rs7341470	0.85[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs739734	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs7798733	0.81[ASN][1000 genomes]
rs7801565	0.89[CHB][hapmap]
rs7811753	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap]
rs875896	0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs875898	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs886339	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs929249	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs983184	1.00[CEU][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983185	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983186	1.00[ASW][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs985652	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887859	chr7:27127231-27196113	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
12	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
13	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
14	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
15	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
18	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
19	nsv887868	chr7:27135314-27202289	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
20	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
21	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
22	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
23	nsv1033316	chr7:27140645-27237951	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
24	nsv606465	chr7:27143757-27229549	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	174 gene(s)	inside rSNPs	diseases
25	nsv606466	chr7:27145024-27197319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
26	nsv606467	chr7:27145100-27196113	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
27	nsv887875	chr7:27145100-27243962	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
28	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
29	nsv5674	chr7:27152562-27197341	Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
30	nsv824042	chr7:27169231-27247232	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
31	nsv887877	chr7:27169388-27217359	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
32	nsv887878	chr7:27175295-27214557	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
33	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
34	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
35	nsv526526	chr7:27182142-27196113	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
36	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2301721	HOTAIRM1	cis	lung	GTEx
rs2301721	HOXA2	Cis_1M	lymphoblastoid	RTeQTL
rs2301721	HOTAIRM1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27186800-27202600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:27191600-27196200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:27193200-27197800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:27193400-27200400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:27193600-27198600	Active TSS	Fetal Kidney	kidney
6	chr7:27194000-27196400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr7:27194200-27197400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:27194400-27196200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:27194400-27196400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr7:27194400-27196400	Flanking Active TSS	HMEC	breast
11	chr7:27194400-27196800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr7:27194600-27196200	Bivalent Enhancer	Liver	Liver
13	chr7:27194600-27196400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:27194600-27196800	Bivalent Enhancer	Spleen	Spleen
15	chr7:27194800-27196200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:27194800-27196400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr7:27194800-27196800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:27195000-27196800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:27195200-27196200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr7:27195200-27196400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
21	chr7:27195200-27196400	Bivalent Enhancer	Left Ventricle	heart
22	chr7:27195200-27196600	Active TSS	A549	lung
23	chr7:27195200-27196800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:27195200-27196800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:27195200-27196800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:27195200-27197000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:27195200-27198400	Bivalent/Poised TSS	Small Intestine	intestine
28	chr7:27195400-27196400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:27195400-27196400	Bivalent Enhancer	Fetal Heart	heart
30	chr7:27195400-27196400	Active TSS	Lung	lung
31	chr7:27195400-27196400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr7:27195400-27196600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:27195400-27196600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:27195400-27196600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr7:27195400-27196600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:27195400-27196600	Active TSS	Aorta	Aorta
37	chr7:27195400-27196600	Active TSS	Colon Smooth Muscle	Colon
38	chr7:27195400-27196600	Bivalent/Poised TSS	Esophagus	oesophagus
39	chr7:27195400-27196600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr7:27195400-27196600	Active TSS	HSMM	muscle
41	chr7:27195400-27196600	Active TSS	HUVEC	blood vessel
42	chr7:27195400-27196800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:27195400-27196800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:27195400-27196800	Active TSS	Psoas Muscle	Psoas
45	chr7:27195400-27196800	Active TSS	HSMMtube	muscle
46	chr7:27195400-27197000	Active TSS	Hela-S3	cervix
47	chr7:27195400-27198400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:27195400-27198600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:27195400-27199600	Active TSS	Colonic Mucosa	Colon
50	chr7:27195400-27203200	Active TSS	Rectal Smooth Muscle	rectum

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