Variant report

Variant	rs983184
Chromosome Location	chr7:27188379-27188380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr7:27188134-27188425	HEK293	kidney:	n/a	chr7:27188244-27188251
2	POLR2A	chr7:27186339-27189177	HEK293	kidney:	n/a	n/a
3	POLR2A	chr7:27187679-27188692	HUVEC	blood vessel:	n/a	n/a
4	ZNF263	chr7:27187696-27189031	HEK293-T-REx	kidney:	n/a	chr7:27187762-27187771 chr7:27187806-27187815 chr7:27188027-27188048 chr7:27188144-27188153 chr7:27187755-27187764
5	SUZ12	chr7:27186302-27188670	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:27187026-27188440	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27188364-27188414	HL-60	blood:	n/a
2	chr7:27188364-27188414	AG09309	skin:	n/a
3	chr7:27188364-27188414	GM12892	blood:	n/a
4	chr7:27188364-27188414	GM06990	blood:	n/a
5	chr7:27188364-27188414	SK-N-SH_RA	brain:	n/a
6	chr7:27188364-27188414	HRPEpiC	eye:	n/a
7	chr7:27188364-27188414	Jurkat	blood:	n/a
8	chr7:27188364-27188414	HRE	kidney:	n/a
9	chr7:27188364-27188414	GM19239	blood:	n/a
10	chr7:27188364-27188414	HCT-116	colon:	n/a
11	chr7:27188364-27188414	IMR90	lung:	fetal
12	chr7:27188364-27188414	Caco-2	colon:	n/a
13	chr7:27188364-27188414	HCM	heart:	n/a
14	chr7:27188364-27188414	HEEpiC	esophagus:	n/a
15	chr7:27188364-27188414	AoSMC	blood vessel:	n/a
16	chr7:27188364-27188414	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:27188364-27188414	RPTEC	kidney:	n/a
18	chr7:27188364-27188414	AG09319	gingival:	n/a
19	chr7:27188364-27188414	HEK293	kidney:	embryo
20	chr7:27188364-27188414	PANC-1	pancreas:	n/a
21	chr7:27188364-27188414	GM12891	blood:	n/a
22	chr7:27188364-27188414	HIPEpiC	eye:	n/a
23	chr7:27188364-27188414	BE2_C	brain:	n/a
24	chr7:27188364-27188414	H1-hESC	embryonic stem cell:	embryo
25	chr7:27188364-27188414	HepG2	liver:	n/a
26	chr7:27188364-27188414	SKMC	muscle:	n/a
27	chr7:27188364-27188414	ECC-1	luminal epithelium:	n/a
28	chr7:27188364-27188414	PFSK-1	brain:	n/a
29	chr7:27188364-27188414	NT2-D1	testis:	n/a
30	chr7:27188364-27188414	LNCaP	prostate:	n/a
31	chr7:27188364-27188414	HCPEpiC	choroid plexus:	n/a
32	chr7:27188364-27188414	MCF10A-Er-Src	breast:	n/a
33	chr7:27188364-27188414	PrEC	prostate:	n/a
34	chr7:27188364-27188414	SK-N-MC	brain:	n/a
35	chr7:27188364-27188414	HAEpiC	amniotic membrane:	n/a
36	chr7:27188364-27188414	CMK	blood:	n/a
37	chr7:27188364-27188414	HNPCEpiC	eye:	n/a
38	chr7:27188364-27188414	NB4	blood:	n/a
39	chr7:27188364-27188414	HRCEpiC	kidney:	n/a
40	chr7:27188364-27188414	A549	lung:	n/a
41	chr7:27188364-27188414	U87	brain:	n/a
42	chr7:27188364-27188414	GM12878	blood:	n/a
43	chr7:27188364-27188414	NHBE	bronchial:	n/a
44	chr7:27188364-27188414	AG10803	skin:	n/a
45	chr7:27188364-27188414	AG04450	lung:	fetal
46	chr7:27188364-27188414	T-47D	breast:	n/a
47	chr7:27188364-27188414	NHDF-neo	bronchial:	n/a
48	chr7:27188364-27188414	HCF	heart:	n/a
49	chr7:27188364-27188414	ProgFib	skin:	n/a
50	chr7:27188364-27188414	MCF-7	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27082525-27089724..7:27181770-27195105	Hela-S3	cervix:
2	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
3	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
4	chr7:27177506..27180077-chr7:27186748..27189037,2	MCF-7	breast:

No data

Variant related genes	Relation type
HOXA6	TF binding region
HOXA-AS3	TF binding region
HOXA-AS3	CpG island
HOXA6	CpG island
ENSG00000105997	Chromatin interaction
ENSG00000254369	Chromatin interaction
ENSG00000213786	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000253552	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10085570	0.85[CEU][hapmap];0.93[ASN][1000 genomes]
rs10225507	0.81[ASN][1000 genomes]
rs10238095	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246712	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs11564055	0.89[ASN][1000 genomes]
rs11762730	0.93[CEU][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11983200	0.88[ASN][1000 genomes]
rs12530948	1.00[ASN][1000 genomes]
rs12533947	0.91[ASN][1000 genomes]
rs12666919	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs12666926	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs1548497	0.93[ASN][1000 genomes]
rs1725074	0.87[ASN][1000 genomes]
rs17449108	0.91[ASN][1000 genomes]
rs17471485	0.91[ASN][1000 genomes]
rs17471520	0.94[ASN][1000 genomes]
rs1801085	0.93[ASN][1000 genomes]
rs1859166	0.93[ASN][1000 genomes]
rs2107063	0.84[CEU][hapmap];0.93[ASN][1000 genomes]
rs2285722	0.90[ASN][1000 genomes]
rs2301720	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs2301721	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]
rs2428432	0.89[ASN][1000 genomes]
rs2428433	0.89[ASN][1000 genomes]
rs2428434	0.90[ASN][1000 genomes]
rs2465275	0.89[ASN][1000 genomes]
rs2465276	0.90[ASN][1000 genomes]
rs3735530	1.00[CEU][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801320	0.93[ASN][1000 genomes]
rs3807597	0.85[CEU][hapmap]
rs3823764	1.00[CEU][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4722657	0.85[CEU][hapmap];0.93[ASN][1000 genomes]
rs4722659	0.85[CEU][hapmap];0.93[ASN][1000 genomes]
rs4722666	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61384251	0.90[ASN][1000 genomes]
rs6461985	0.93[ASN][1000 genomes]
rs6461987	0.94[ASN][1000 genomes]
rs68021164	0.97[ASN][1000 genomes]
rs6948297	0.93[ASN][1000 genomes]
rs6957209	0.93[ASN][1000 genomes]
rs6962314	0.94[ASN][1000 genomes]
rs6969780	0.93[ASN][1000 genomes]
rs6973182	0.94[ASN][1000 genomes]
rs6976129	0.94[ASN][1000 genomes]
rs73071548	0.93[ASN][1000 genomes]
rs73071550	0.93[ASN][1000 genomes]
rs7341470	0.85[CEU][hapmap];0.97[ASN][1000 genomes]
rs739734	0.94[ASN][1000 genomes]
rs7798733	0.93[ASN][1000 genomes]
rs875896	0.89[AFR][1000 genomes]
rs875898	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886339	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs929249	0.94[ASN][1000 genomes]
rs983185	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983186	0.87[YRI][hapmap];0.99[AFR][1000 genomes]
rs985652	1.00[CEU][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 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	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs983184	HOTAIRM1	cis	Esophagus Muscularis	GTEx
rs983184	HOXA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27181800-27190400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
2	chr7:27183600-27190400	Flanking Active TSS	HUVEC	blood vessel
3	chr7:27184000-27188600	Weak transcription	A549	lung
4	chr7:27185600-27188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27186600-27188600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:27186600-27191600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:27186600-27193000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr7:27186800-27188400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr7:27186800-27188800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:27186800-27188800	Bivalent Enhancer	Placenta	Placenta
11	chr7:27186800-27189200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr7:27186800-27189400	Flanking Active TSS	HMEC	breast
13	chr7:27186800-27190600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:27186800-27202600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:27187000-27188400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr7:27187000-27188400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:27187000-27188600	Active TSS	Colon Smooth Muscle	Colon
18	chr7:27187000-27188800	Active TSS	Fetal Kidney	kidney
19	chr7:27187000-27190200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:27187000-27190200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:27187000-27190400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:27187200-27188400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:27187200-27188400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:27187200-27192400	Active TSS	Psoas Muscle	Psoas
25	chr7:27187400-27188400	Active TSS	Aorta	Aorta
26	chr7:27187400-27188400	Bivalent/Poised TSS	Right Ventricle	heart
27	chr7:27187400-27188600	Bivalent/Poised TSS	Fetal Lung	lung
28	chr7:27187400-27188600	Bivalent/Poised TSS	Small Intestine	intestine
29	chr7:27187400-27190800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr7:27187600-27188400	Flanking Active TSS	Colonic Mucosa	Colon
31	chr7:27187600-27188400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr7:27187600-27188800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr7:27187600-27188800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr7:27187800-27188400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr7:27187800-27188400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr7:27187800-27188400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr7:27187800-27188400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr7:27187800-27188400	Bivalent Enhancer	Spleen	Spleen
39	chr7:27187800-27188600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr7:27187800-27188800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:27187800-27188800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:27187800-27188800	Flanking Active TSS	NHLF	lung
43	chr7:27187800-27189000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:27187800-27189000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr7:27187800-27189200	Flanking Active TSS	Hela-S3	cervix
46	chr7:27187800-27189400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr7:27187800-27189400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:27187800-27189400	Flanking Active TSS	NHEK	skin
49	chr7:27187800-27189800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:27187800-27190400	Flanking Active TSS	Osteobl	bone

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