Variant report

Variant	rs7814088
Chromosome Location	chr8:99960276-99960277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr8:99959304-99962717	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr8:99959546-99961007	GM12878	blood:	n/a	n/a
3	CTBP2	chr8:99959058-99960707	H1-hESC	embryonic stem cell:	n/a	n/a
4	RUNX3	chr8:99960226-99961053	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:99959462-99961904	GM19193	blood:	n/a	n/a
6	NFIC	chr8:99959840-99960448	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:99959881-99960995	GM18951	blood:	n/a	n/a
8	MTA3	chr8:99959375-99961438	GM12878	blood:	n/a	n/a
9	E2F6	chr8:99959671-99960902	H1-hESC	embryonic stem cell:	n/a	chr8:99960542-99960550
10	SUZ12	chr8:99959294-99964213	NT2-D1	testis:	n/a	n/a
11	MAX	chr8:99959632-99960836	H1-hESC	embryonic stem cell:	n/a	chr8:99960324-99960334
12	CTCF	chr8:99960200-99960350	AG04449	skin:	n/a	n/a
13	SIN3A	chr8:99959713-99960448	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99959441..99961550-chr8:99971989..99973976,2	K562	blood:
2	chr8:99949821..99952393-chr8:99958605..99960379,2	K562	blood:
3	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
4	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
5	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:

No data

Variant related genes	Relation type
OSR2	TF binding region
ENSG00000229625	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11985354	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985377	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986138	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987297	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap];0.97[ASN][1000 genomes]
rs11987308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987800	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988364	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989805	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990131	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990603	0.80[ASN][1000 genomes]
rs11990888	0.88[ASN][1000 genomes]
rs11993237	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995021	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996944	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997079	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997104	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997495	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998168	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998193	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11998245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1447244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897132	0.97[ASN][1000 genomes]
rs34930351	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35082816	0.87[ASN][1000 genomes]
rs35318343	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35755686	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4501558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4585717	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734422	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734423	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734427	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4734428	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735583	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735584	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735590	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735593	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735594	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735595	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735596	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735605	0.88[ASN][1000 genomes]
rs4735606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57231976	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672316	0.88[ASN][1000 genomes]
rs745721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814617	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818738	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7819606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829389	0.84[ASN][1000 genomes]
rs7832595	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99951600-99961600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:99952200-99961400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:99952400-99960800	Active TSS	Ovary	ovary
4	chr8:99957600-99962000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr8:99958000-99960400	Weak transcription	HSMM	muscle
6	chr8:99958000-99961600	Active TSS	NHLF	lung
7	chr8:99958600-99961800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr8:99958600-99965000	Weak transcription	HSMMtube	muscle
9	chr8:99958800-99960600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr8:99958800-99961600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:99958800-99961800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:99959000-99960400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
13	chr8:99959000-99960600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr8:99959000-99961600	Weak transcription	K562	blood
15	chr8:99959000-99962400	Weak transcription	Hela-S3	cervix
16	chr8:99959200-99962000	Flanking Active TSS	GM12878-XiMat	blood
17	chr8:99959400-99960400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr8:99959400-99960400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr8:99959400-99960800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr8:99959400-99961000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr8:99959400-99961400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:99959400-99961600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:99959400-99961600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:99959400-99962200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr8:99959600-99960400	Flanking Active TSS	Osteobl	bone
26	chr8:99959600-99960600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:99959600-99960600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr8:99959600-99961000	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr8:99959600-99961200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:99959600-99961200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:99959600-99961200	Enhancers	Lung	lung
32	chr8:99959600-99961400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr8:99959600-99961600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr8:99959600-99961600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr8:99959600-99961600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
36	chr8:99959600-99962000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr8:99959600-99962000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr8:99959800-99960400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr8:99959800-99960400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:99959800-99960400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:99959800-99960400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:99959800-99960400	Bivalent Enhancer	Fetal Lung	lung
43	chr8:99959800-99960400	Bivalent Enhancer	Fetal Thymus	thymus
44	chr8:99959800-99960600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
45	chr8:99959800-99960800	Bivalent Enhancer	Liver	Liver
46	chr8:99959800-99961200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:99959800-99961200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:99959800-99961200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:99959800-99961600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:99959800-99961600	Bivalent Enhancer	Fetal Brain Male	brain

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