Variant report

Variant	rs2158217
Chromosome Location	chr7:27291420-27291421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:27291102-27291658	H1-hESC	embryonic stem cell:	n/a	chr7:27291542-27291554 chr7:27291273-27291285
2	GABPA	chr7:27291118-27291562	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr7:27288749-27293090	NT2-D1	testis:	n/a	n/a
4	MAX	chr7:27291122-27291580	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr7:27290953-27292875	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr7:27291151-27291619	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr7:27291075-27291649	H1-hESC	embryonic stem cell:	n/a	chr7:27291542-27291554 chr7:27291273-27291285
8	GABPA	chr7:27291124-27291570	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr7:27291361-27291546	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:27289817-27292504	H1-neurons	neurons:	n/a	n/a
11	CTBP2	chr7:27291084-27292418	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:27289692-27292600	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27291388-27291438	AG04450	lung:	fetal
2	chr7:27291388-27291438	HEK293	kidney:	embryo
3	chr7:27291388-27291438	NHDF-neo	bronchial:	n/a
4	chr7:27291388-27291438	HNPCEpiC	eye:	n/a
5	chr7:27291388-27291438	RPTEC	kidney:	n/a
6	chr7:27291388-27291438	HMEC	breast:	n/a
7	chr7:27291388-27291438	HRPEpiC	eye:	n/a
8	chr7:27291388-27291438	HRE	kidney:	n/a
9	chr7:27291388-27291438	HUVEC	blood vessel:	n/a
10	chr7:27291388-27291438	HCPEpiC	choroid plexus:	n/a
11	chr7:27291388-27291438	HAEpiC	amniotic membrane:	n/a
12	chr7:27291388-27291438	T-47D	breast:	n/a
13	chr7:27291388-27291438	SKMC	muscle:	n/a
14	chr7:27291388-27291438	K562	blood:	n/a
15	chr7:27291388-27291438	GM19239	blood:	n/a
16	chr7:27291388-27291438	Hela-S3	cervix:	n/a
17	chr7:27291388-27291438	ECC-1	luminal epithelium:	n/a
18	chr7:27291388-27291438	GM06990	blood:	n/a
19	chr7:27291388-27291438	LNCaP	prostate:	n/a
20	chr7:27291388-27291438	HCM	heart:	n/a
21	chr7:27291388-27291438	HRCEpiC	kidney:	n/a
22	chr7:27291388-27291438	H1-hESC	embryonic stem cell:	embryo
23	chr7:27291388-27291438	ovcar-3	ovarian:	n/a
24	chr7:27291388-27291438	SAEC	small airway:	n/a
25	chr7:27291388-27291438	SK-N-MC	brain:	n/a
26	chr7:27291388-27291438	GM12891	blood:	n/a
27	chr7:27291388-27291438	GM12892	blood:	n/a
28	chr7:27291388-27291438	AG09309	skin:	n/a
29	chr7:27291388-27291438	AG09319	gingival:	n/a
30	chr7:27291388-27291438	SK-N-SH_RA	brain:	n/a
31	chr7:27291388-27291438	HCF	heart:	n/a
32	chr7:27291388-27291438	BJ	skin:	n/a
33	chr7:27291388-27291438	HIPEpiC	eye:	n/a
34	chr7:27291388-27291438	IMR90	lung:	fetal
35	chr7:27291388-27291438	AoSMC	blood vessel:	n/a
36	chr7:27291388-27291438	A549	lung:	n/a
37	chr7:27291388-27291438	MCF-7	breast:	n/a
38	chr7:27291388-27291438	BE2_C	brain:	n/a
39	chr7:27291388-27291438	SK-N-SH	brain:	n/a
40	chr7:27291388-27291438	HL-60	blood:	n/a
41	chr7:27291388-27291438	PrEC	prostate:	n/a
42	chr7:27291388-27291438	HCT-116	colon:	n/a
43	chr7:27291388-27291438	NB4	blood:	n/a
44	chr7:27291388-27291438	AG04449	skin:	fetal
45	chr7:27291388-27291438	PANC-1	pancreas:	n/a
46	chr7:27291388-27291438	HEEpiC	esophagus:	n/a
47	chr7:27291388-27291438	NT2-D1	testis:	n/a
48	chr7:27291388-27291438	NHBE	bronchial:	n/a
49	chr7:27291388-27291438	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:27291388-27291438	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
EVX1-AS	TF binding region
EVX1-AS	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10230578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272215	0.88[AFR][1000 genomes]
rs17472406	1.00[AMR][1000 genomes]
rs17472448	1.00[AMR][1000 genomes]
rs17501940	0.88[AFR][1000 genomes]
rs60368266	1.00[AMR][1000 genomes]
rs73282575	1.00[AMR][1000 genomes]
rs73282602	1.00[AMR][1000 genomes]
rs73290349	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
17	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27283600-27293600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27288400-27292200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr7:27289000-27292000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:27290400-27291600	Bivalent Enhancer	Brain Hippocampus Middle	brain
5	chr7:27290400-27292000	Bivalent Enhancer	Fetal Stomach	stomach
6	chr7:27290600-27291600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr7:27290600-27292400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr7:27290800-27291600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:27290800-27291800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr7:27290800-27292000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr7:27290800-27292000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr7:27290800-27292200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr7:27290800-27292200	Bivalent Enhancer	Fetal Lung	lung
14	chr7:27290800-27292800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr7:27291000-27291600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:27291000-27291600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:27291000-27291600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:27291000-27291600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:27291000-27291600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:27291000-27291600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:27291000-27291600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr7:27291000-27291600	Bivalent Enhancer	Left Ventricle	heart
23	chr7:27291000-27291600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
24	chr7:27291000-27291600	Flanking Active TSS	Right Atrium	heart
25	chr7:27291000-27291600	Bivalent Enhancer	Small Intestine	intestine
26	chr7:27291000-27291600	Bivalent Enhancer	HMEC	breast
27	chr7:27291000-27291800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr7:27291000-27292000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:27291000-27292000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr7:27291000-27292000	Bivalent Enhancer	Liver	Liver
31	chr7:27291000-27292000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr7:27291000-27292000	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr7:27291000-27292000	Flanking Active TSS	Right Ventricle	heart
34	chr7:27291000-27292000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr7:27291000-27292000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
36	chr7:27291000-27292200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:27291000-27292200	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr7:27291000-27292200	Bivalent Enhancer	Spleen	Spleen
39	chr7:27291000-27292600	Bivalent Enhancer	Fetal Brain Male	brain
40	chr7:27291200-27291600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:27291200-27291600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:27291200-27291600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:27291200-27292000	Bivalent Enhancer	Lung	lung
44	chr7:27291200-27292200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:27291200-27292200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:27291200-27292200	Bivalent Enhancer	Esophagus	oesophagus
47	chr7:27291200-27292200	Bivalent Enhancer	Fetal Heart	heart
48	chr7:27291200-27292200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr7:27291200-27292200	Enhancers	Gastric	stomach
50	chr7:27291200-27292200	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links