Variant report

Variant	rs10102200
Chromosome Location	chr8:107630040-107630041
allele	C/T
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	RAD21	chr8:107630029-107630532	MCF-7	breast:	n/a	chr8:107630240-107630250 chr8:107630235-107630254
2	RAD21	chr8:107630020-107630457	HepG2	liver:	n/a	chr8:107630240-107630250 chr8:107630235-107630254
3	FOXA1	chr8:107630040-107630338	T-47D	breast:	n/a	n/a
4	CTCF	chr8:107630024-107630463	HepG2	liver:	n/a	chr8:107630234-107630252 chr8:107630237-107630246
5	RAD21	chr8:107630018-107630494	ECC-1	luminal epithelium:	n/a	chr8:107630240-107630250 chr8:107630235-107630254
6	CTCF	chr8:107630040-107630190	GM12866	blood:	n/a	n/a
7	RAD21	chr8:107629930-107630361	HCT-116	colon:	n/a	chr8:107630240-107630250 chr8:107630235-107630254
8	ARID3A	chr8:107629869-107630568	HepG2	liver:	n/a	n/a
9	RAD21	chr8:107629925-107630518	MCF-7	breast:	n/a	chr8:107630240-107630250 chr8:107630235-107630254
10	CTCF	chr8:107629926-107630520	MCF-7	breast:	n/a	chr8:107630234-107630252 chr8:107630237-107630246
11	KAP1	chr8:107629989-107630534	HEK293	kidney:	n/a	n/a
12	BCLAF1	chr8:107630020-107630446	GM12878	blood:	n/a	n/a
13	GATA3	chr8:107630026-107630446	T-47D	breast:	n/a	n/a
14	CTCF	chr8:107629993-107630535	MCF-7	breast:	n/a	chr8:107630234-107630252 chr8:107630237-107630246

No.	Distal block	Cell Line	Cell type
1	chr8:107628207..107632288-chr8:107667853..107671892,6	MCF-7	breast:
2	chr8:107627292..107630232-chr8:107665410..107668409,2	MCF-7	breast:
3	chr8:107628700..107633249-chr8:107668680..107671616,7	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10089338	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100453	0.87[ASN][1000 genomes]
rs10109609	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10112678	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505094	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505095	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11989387	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994815	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11994941	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12114857	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678817	0.85[ASN][1000 genomes]
rs13257540	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13272695	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13273300	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13277536	0.85[ASN][1000 genomes]
rs13277953	0.85[ASN][1000 genomes]
rs1564117	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1968804	0.80[ASN][1000 genomes]
rs1968806	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1968807	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28515157	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34566529	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35480722	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35638470	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56746010	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7008064	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462454	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825288	0.84[ASN][1000 genomes]
rs7836690	0.85[ASN][1000 genomes]
rs7845941	0.85[ASN][1000 genomes]
rs9297384	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107617200-107641000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:107620400-107653400	Weak transcription	Aorta	Aorta
4	chr8:107621400-107633400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:107624000-107630200	Weak transcription	Gastric	stomach
6	chr8:107629000-107630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:107629400-107630200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:107629600-107630200	Enhancers	Fetal Intestine Large	intestine
9	chr8:107629600-107630400	Weak transcription	Small Intestine	intestine
10	chr8:107629800-107630200	Flanking Active TSS	HepG2	liver
11	chr8:107629800-107630400	Weak transcription	Stomach Mucosa	stomach
12	chr8:107629800-107630600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:107629800-107630800	Enhancers	Fetal Kidney	kidney
14	chr8:107630000-107630200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:107630000-107630200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:107630000-107630200	Active TSS	GM12878-XiMat	blood
17	chr8:107630000-107630200	Flanking Active TSS	HMEC	breast
18	chr8:107630000-107630400	Active TSS	Fetal Intestine Small	intestine
19	chr8:107630000-107630400	Active TSS	Pancreas	Pancrea
20	chr8:107630000-107630600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:107630000-107630600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:107630000-107630600	Enhancers	Fetal Lung	lung
23	chr8:107630000-107630800	Active TSS	Liver	Liver
24	chr8:107630000-107630800	Active TSS	Duodenum Mucosa	Duodenum

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