Variant report

Variant	rs10091966
Chromosome Location	chr8:19169851-19169852
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	MAX	chr8:19169636-19172462	A549	lung:	n/a	chr8:19171900-19171909
2	GTF2F1	chr8:19169639-19171427	Hela-S3	cervix:	n/a	n/a
3	STAT1	chr8:19169841-19172201	Hela-S3	cervix:	n/a	chr8:19170194-19170203 chr8:19170191-19170205 chr8:19171239-19171251 chr8:19170175-19170183 chr8:19170178-19170186 chr8:19170636-19170647 chr8:19171253-19171265 chr8:19170193-19170202 chr8:19170188-19170208
4	SMC3	chr8:19169794-19170703	Hela-S3	cervix:	n/a	n/a
5	MYC	chr8:19169657-19172222	A549	lung:	n/a	chr8:19171900-19171909
6	USF2	chr8:19169847-19169963	HepG2	liver:	n/a	n/a
7	TCF12	chr8:19169800-19172479	A549	lung:	n/a	chr8:19171846-19171853 chr8:19171506-19171513
8	TFAP2C	chr8:19169755-19172184	Hela-S3	cervix:	n/a	chr8:19170244-19170259
9	RCOR1	chr8:19169698-19172195	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19169455..19173162-chr8:19175391..19178341,5	MCF-7	breast:
2	chr8:19169628..19172105-chr8:19676058..19678927,2	MCF-7	breast:

Variant related genes	Relation type
SH2D4A	TF binding region
ENSG00000104613	Chromatin interaction
ENSG00000104611	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10097133	0.91[GIH][hapmap]
rs10099975	0.90[EUR][1000 genomes]
rs10109833	0.90[EUR][1000 genomes]
rs10110529	0.90[EUR][1000 genomes]
rs10111741	0.81[GIH][hapmap]
rs1193283	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs1193285	1.00[CEU][hapmap]
rs1193310	0.84[GIH][hapmap]
rs11996647	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271932	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274391	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1399393	1.00[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap]
rs1514700	0.84[GIH][hapmap]
rs17128100	1.00[CEU][hapmap]
rs17128148	0.91[GIH][hapmap]
rs2139765	1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs2139766	1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs2672256	0.91[GIH][hapmap]
rs28394226	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28421484	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28455518	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497555	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557078	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637083	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28671269	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726078	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34630796	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35482371	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35538489	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35667678	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997282	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997290	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997432	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997480	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001613	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014549	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71510646	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816722	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7820597	0.92[EUR][1000 genomes]
rs7822014	0.92[EUR][1000 genomes]
rs9325854	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19151400-19170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:19161000-19170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:19162800-19170200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:19168200-19170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19168200-19170800	Enhancers	Fetal Heart	heart
6	chr8:19169000-19170800	Enhancers	Placenta	Placenta
7	chr8:19169200-19170000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:19169400-19170000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:19169400-19170000	Bivalent Enhancer	HepG2	liver
10	chr8:19169400-19170200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:19169400-19170200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr8:19169400-19170600	Enhancers	Fetal Intestine Large	intestine
13	chr8:19169400-19170600	Enhancers	Fetal Intestine Small	intestine
14	chr8:19169600-19170000	Enhancers	Gastric	stomach
15	chr8:19169600-19170000	Enhancers	Stomach Mucosa	stomach
16	chr8:19169600-19170200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr8:19169600-19170200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:19169600-19170200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:19169600-19170200	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:19169600-19170200	Enhancers	NHLF	lung
21	chr8:19169600-19170400	Enhancers	Pancreas	Pancrea
22	chr8:19169600-19170400	Enhancers	Osteobl	bone
23	chr8:19169600-19170600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:19169600-19170600	Enhancers	Right Atrium	heart
25	chr8:19169600-19170800	Enhancers	Colonic Mucosa	Colon
26	chr8:19169600-19170800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:19169600-19171000	Enhancers	Fetal Lung	lung
28	chr8:19169600-19171000	Flanking Active TSS	Hela-S3	cervix
29	chr8:19169600-19171000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr8:19169800-19170000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
31	chr8:19169800-19170000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:19169800-19170200	Enhancers	Fetal Kidney	kidney
33	chr8:19169800-19170200	Enhancers	NHEK	skin
34	chr8:19169800-19170400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:19169800-19170400	Enhancers	Adipose Nuclei	Adipose
36	chr8:19169800-19170400	Enhancers	Liver	Liver
37	chr8:19169800-19170400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr8:19169800-19170400	Active TSS	Fetal Brain Male	brain
39	chr8:19169800-19170400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:19169800-19170400	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:19169800-19170600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:19169800-19170600	Enhancers	Ovary	ovary
43	chr8:19169800-19170600	Flanking Active TSS	A549	lung
44	chr8:19169800-19170800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr8:19169800-19170800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:19169800-19170800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr8:19169800-19170800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr8:19169800-19170800	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr8:19169800-19170800	Enhancers	Fetal Stomach	stomach
50	chr8:19169800-19170800	Enhancers	HMEC	breast

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