Variant report

Variant	rs1548497
Chromosome Location	chr7:27174316-27174317
allele	A/G
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	STAT3	chr7:27173968-27174702	MCF10A-Er-Src	breast:	n/a	chr7:27174500-27174507 chr7:27174572-27174595 chr7:27174196-27174207
2	TCF7L2	chr7:27173298-27174468	PANC-1	pancreas:	n/a	chr7:27173686-27173696 chr7:27173683-27173697 chr7:27173682-27173698 chr7:27173682-27173698
3	MAX	chr7:27173928-27174425	NB4	blood:	n/a	n/a
4	ATF2	chr7:27173974-27174382	GM12878	blood:	n/a	n/a
5	STAT3	chr7:27173963-27174648	MCF10A-Er-Src	breast:	n/a	chr7:27174500-27174507 chr7:27174572-27174595 chr7:27174196-27174207
6	MYC	chr7:27173971-27174480	MCF10A-Er-Src	breast:	n/a	n/a
7	BHLHE40	chr7:27174031-27174323	GM12878	blood:	n/a	n/a
8	NFIC	chr7:27173892-27174473	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:27174038-27174385	U87	brain:	n/a	n/a
10	FOS	chr7:27173942-27174427	MCF10A-Er-Src	breast:	n/a	chr7:27174180-27174191
11	JUN	chr7:27173989-27174375	HUVEC	blood vessel:	n/a	n/a
12	CEBPB	chr7:27173765-27174446	IMR90	lung:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
13	GATA2	chr7:27173034-27174418	HUVEC	blood vessel:	n/a	n/a
14	MAFK	chr7:27174085-27174424	IMR90	lung:	n/a	chr7:27174180-27174189 chr7:27174243-27174259 chr7:27174183-27174192
15	POLR2A	chr7:27173972-27174538	MCF10A-Er-Src	breast:	n/a	n/a
16	BATF	chr7:27174042-27174424	GM12878	blood:	n/a	chr7:27174182-27174193
17	BCL11A	chr7:27174091-27174316	GM12878	blood:	n/a	n/a
18	FOS	chr7:27173811-27174478	MCF10A-Er-Src	breast:	n/a	chr7:27174180-27174191
19	KAP1	chr7:27172683-27174357	HEK293	kidney:	n/a	chr7:27174183-27174192
20	FOS	chr7:27173335-27174413	HUVEC	blood vessel:	n/a	chr7:27174180-27174191
21	POLR2A	chr7:27173004-27175144	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr7:27174089-27174352	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr7:27174098-27174399	HepG2	liver:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
24	POLR2A	chr7:27172709-27186093	IMR90	lung:	n/a	n/a
25	FOS	chr7:27173942-27174497	MCF10A-Er-Src	breast:	n/a	chr7:27174180-27174191
26	CEBPB	chr7:27174066-27174397	A549	lung:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
27	FOS	chr7:27173979-27174429	MCF10A-Er-Src	breast:	n/a	chr7:27174180-27174191
28	BATF	chr7:27174043-27174335	GM12878	blood:	n/a	chr7:27174182-27174193
29	STAT3	chr7:27174070-27174602	MCF10A-Er-Src	breast:	n/a	chr7:27174500-27174507 chr7:27174572-27174595 chr7:27174196-27174207
30	FOSL1	chr7:27173794-27174537	HCT-116	colon:	n/a	n/a
31	STAT3	chr7:27173954-27174458	MCF10A-Er-Src	breast:	n/a	chr7:27174196-27174207
32	SP1	chr7:27174031-27174421	GM12878	blood:	n/a	n/a
33	MYC	chr7:27173934-27175032	MCF10A-Er-Src	breast:	n/a	n/a
34	PAX5	chr7:27174089-27174448	GM12878	blood:	n/a	n/a
35	WRNIP1	chr7:27174142-27174338	GM12878	blood:	n/a	n/a
36	STAT3	chr7:27173950-27174697	MCF10A-Er-Src	breast:	n/a	chr7:27174500-27174507 chr7:27174572-27174595 chr7:27174196-27174207
37	RELA	chr7:27174052-27174414	GM12891	blood:	n/a	n/a
38	CEBPB	chr7:27173981-27174510	HCT-116	colon:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
39	IRF4	chr7:27174091-27174453	GM12878	blood:	n/a	n/a
40	RUNX3	chr7:27173997-27174402	GM12878	blood:	n/a	n/a
41	FOXA2	chr7:27174043-27174396	HepG2	liver:	n/a	n/a
42	ATF2	chr7:27173946-27174397	GM12878	blood:	n/a	n/a
43	MYC	chr7:27174047-27174445	NB4	blood:	n/a	n/a
44	BCL3	chr7:27174044-27174332	GM12878	blood:	n/a	n/a
45	RAD21	chr7:27173841-27174450	IMR90	lung:	n/a	n/a
46	FOXM1	chr7:27173972-27174320	GM12878	blood:	n/a	n/a
47	EP300	chr7:27174037-27174400	GM12878	blood:	n/a	n/a
48	RUNX3	chr7:27174004-27174466	GM12878	blood:	n/a	n/a
49	CHD1	chr7:27172934-27188024	IMR90	lung:	n/a	chr7:27183718-27183728 chr7:27179430-27179440
50	EBF1	chr7:27174082-27174330	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27173201-27176959..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
2	7:27158219-27162022..7:27173201-27176959	H1-hESC	embryonic stem cell:	embryo
3	7:27143270-27156413..7:27173201-27176959	H1-hESC	embryonic stem cell:	embryo
4	chr7:27168902..27171913-chr7:27172340..27176747,4	K562	blood:
5	7:27173201-27176959..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
6	chr7:26903264..26905993-chr7:27172832..27179682,7	MCF-7	breast:
7	chr7:26894678..26896550-chr7:27170054..27174548,4	MCF-7	breast:
8	chr7:26897524..26906359-chr7:27169396..27177834,18	MCF-7	breast:

Variant related genes	Relation type
HOXA4	TF binding region
ENSG00000106031	Chromatin interaction
ENSG00000105997	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000197576	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000254369	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000078399	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10085570	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs10225507	0.85[ASN][1000 genomes]
rs10238095	0.93[ASN][1000 genomes]
rs10246712	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.93[ASN][1000 genomes]
rs11564055	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11762730	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs11983200	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12530948	0.93[ASN][1000 genomes]
rs12533947	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12666919	0.84[ASW][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12666926	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1725074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17449108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17471485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17471520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1801085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859166	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2107063	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2285722	0.97[ASN][1000 genomes]
rs2301720	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.93[ASN][1000 genomes]
rs2301721	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2428432	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2428433	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2428434	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465275	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2465276	0.84[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735530	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs3801320	0.97[ASN][1000 genomes]
rs3807597	0.84[ASW][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap]
rs3823764	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4722657	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs4722659	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[ASN][1000 genomes]
rs4722666	0.89[ASN][1000 genomes]
rs61384251	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68021164	0.90[ASN][1000 genomes]
rs6948297	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957209	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6962314	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6976129	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73071548	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071550	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341470	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.96[ASN][1000 genomes]
rs739734	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7798733	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801565	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7811753	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs875898	0.91[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs886339	0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs929249	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983184	0.93[ASN][1000 genomes]
rs983185	0.93[ASN][1000 genomes]
rs985652	0.83[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 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	nsv887858	chr7:27127231-27188659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv887860	chr7:27127231-27196069	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv606463	chr7:27135314-27182245	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
22	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
23	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
24	nsv887871	chr7:27136308-27179814	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS 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	53 gene(s)	inside rSNPs	diseases
25	nsv887872	chr7:27136308-27181437	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS 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	54 gene(s)	inside rSNPs	diseases
26	nsv887873	chr7:27136308-27186495	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
27	nsv887874	chr7:27136308-27196069	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	nsv887876	chr7:27168858-27196069	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers 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	37 gene(s)	inside rSNPs	diseases
38	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
39	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
40	esv1824277	chr7:27169934-27176966	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1548497	HOTAIRM1	cis	Skin Sun Exposed Lower leg	GTEx
rs1548497	RORA	trans	lymphoblastoid	seeQTL
rs1548497	HOTAIRM1	cis	Esophagus Muscularis	GTEx
rs1548497	HOXA9	cis	multi-tissue	Pritchard
rs1548497	HOXA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27171200-27175400	Enhancers	NHLF	lung
2	chr7:27171200-27175600	Enhancers	Fetal Stomach	stomach
3	chr7:27171200-27175800	Enhancers	Fetal Intestine Large	intestine
4	chr7:27171200-27176400	Weak transcription	Lung	lung
5	chr7:27171200-27181400	Weak transcription	Esophagus	oesophagus
6	chr7:27171400-27174800	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:27171400-27175200	Enhancers	A549	lung
8	chr7:27171400-27175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:27171400-27175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:27171400-27175800	Weak transcription	HSMMtube	muscle
11	chr7:27172600-27174400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:27172600-27174400	Flanking Active TSS	Fetal Kidney	kidney
13	chr7:27172600-27178400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:27173000-27174400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:27173000-27174400	Flanking Active TSS	HUVEC	blood vessel
16	chr7:27173000-27174800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:27173000-27174800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:27173000-27174800	Enhancers	Stomach Mucosa	stomach
19	chr7:27173000-27175600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr7:27173000-27175800	Genic enhancers	Fetal Muscle Leg	muscle
21	chr7:27173000-27176400	Enhancers	Adipose Nuclei	Adipose
22	chr7:27173000-27176800	Enhancers	NHEK	skin
23	chr7:27173200-27174400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr7:27173200-27175200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:27173200-27175600	Enhancers	HMEC	breast
26	chr7:27173400-27174400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:27173400-27174800	Enhancers	HSMM	muscle
28	chr7:27173400-27175400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:27173400-27175800	Enhancers	Osteobl	bone
30	chr7:27173400-27177600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:27173600-27175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:27173600-27175600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr7:27173600-27177600	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:27173800-27174400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:27173800-27175200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:27173800-27175400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:27173800-27175400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:27173800-27175800	Enhancers	NHDF-Ad	bronchial
39	chr7:27173800-27176400	Weak transcription	Psoas Muscle	Psoas
40	chr7:27173800-27178400	Enhancers	Fetal Intestine Small	intestine
41	chr7:27173800-27178600	Enhancers	Colon Smooth Muscle	Colon
42	chr7:27173800-27179200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:27174000-27174400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
44	chr7:27174000-27174800	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:27174000-27175000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:27174000-27175600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:27174000-27175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:27174000-27175800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:27174000-27176000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:27174200-27174400	Enhancers	Colonic Mucosa	Colon

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