Variant report

Variant	rs7893456
Chromosome Location	chr10:5007862-5007863
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	ZBTB33	chr10:5007555-5008053	A549	lung:	n/a	n/a
2	POLR2A	chr10:5006283-5008545	HepG2	liver:	n/a	n/a
3	YY1	chr10:5007809-5008393	A549	lung:	n/a	n/a
4	POLR2A	chr10:5007063-5008212	HepG2	liver:	n/a	n/a
5	HEY1	chr10:5005313-5008731	HepG2	liver:	n/a	n/a
6	SP1	chr10:5007683-5008506	A549	lung:	n/a	n/a
7	POLR2A	chr10:5006528-5008192	A549	lung:	n/a	n/a
8	BCL3	chr10:5006044-5008338	A549	lung:	n/a	n/a
9	POLR2A	chr10:5005321-5012094	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:5007829-5008120	A549	lung:	n/a	n/a
11	HEY1	chr10:5007854-5008488	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:5007834-5008345	A549	lung:	n/a	n/a
13	POLR2A	chr10:5006471-5008272	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:5006930-5008241	HepG2	liver:	n/a	n/a
15	JUND	chr10:5006865-5008577	A549	lung:	n/a	n/a
16	POLR2A	chr10:5007803-5008066	A549	lung:	n/a	n/a
17	POLR2A	chr10:5007841-5008038	A549	lung:	n/a	n/a
18	TCF12	chr10:5006814-5008262	A549	lung:	n/a	n/a
19	POLR2A	chr10:5007849-5008096	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000238840	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11252853	1.00[ASN][1000 genomes]
rs11252862	0.81[ASN][1000 genomes]
rs12250633	0.81[ASN][1000 genomes]
rs12263706	0.92[ASN][1000 genomes]
rs12264439	0.86[ASN][1000 genomes]
rs12264914	1.00[ASN][1000 genomes]
rs34072915	0.83[EUR][1000 genomes]
rs34373625	0.81[EUR][1000 genomes]
rs34420413	0.81[EUR][1000 genomes]
rs34702521	0.81[EUR][1000 genomes]
rs34724070	0.81[EUR][1000 genomes]
rs35016422	0.81[EUR][1000 genomes]
rs35056421	0.81[EUR][1000 genomes]
rs35231678	0.81[EUR][1000 genomes]
rs35468197	0.81[EUR][1000 genomes]
rs36000835	0.81[EUR][1000 genomes]
rs36096746	0.81[EUR][1000 genomes]
rs3890593	0.85[ASN][1000 genomes]
rs3890643	0.85[ASN][1000 genomes]
rs3923936	0.85[ASN][1000 genomes]
rs3925947	1.00[ASN][1000 genomes]
rs41305661	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4382804	0.81[EUR][1000 genomes]
rs4418707	0.81[EUR][1000 genomes]
rs4445550	0.84[ASN][1000 genomes]
rs4628584	0.82[EUR][1000 genomes]
rs5011018	0.81[EUR][1000 genomes]
rs5011019	0.81[EUR][1000 genomes]
rs56136181	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56279605	0.81[EUR][1000 genomes]
rs59428599	0.83[EUR][1000 genomes]
rs61856089	0.90[EUR][1000 genomes]
rs6601887	0.81[ASN][1000 genomes]
rs6601888	0.81[ASN][1000 genomes]
rs6650153	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66624122	0.81[EUR][1000 genomes]
rs66885174	0.81[EUR][1000 genomes]
rs67466576	0.81[EUR][1000 genomes]
rs68005215	0.81[EUR][1000 genomes]
rs68057779	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7068923	0.81[ASN][1000 genomes]
rs7076886	1.00[ASN][1000 genomes]
rs7089378	0.85[ASN][1000 genomes]
rs71230207	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71477878	0.81[EUR][1000 genomes]
rs72769971	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907062	0.82[EUR][1000 genomes]
rs7908994	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909151	0.81[ASN][1000 genomes]
rs7916644	0.84[ASN][1000 genomes]
rs7921185	0.81[EUR][1000 genomes]
rs7922153	0.81[EUR][1000 genomes]
rs7922874	0.81[ASN][1000 genomes]

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	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7893456	AKR1C2	cis	Esophagus Muscularis	GTEx
rs7893456	AKR1C1	cis	Whole Blood	GTEx
rs7893456	AKR1C2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4998200-5023800	Weak transcription	Gastric	stomach
2	chr10:5004200-5008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:5005200-5008400	Active TSS	Liver	Liver
5	chr10:5005600-5008000	Active TSS	Psoas Muscle	Psoas
6	chr10:5005600-5008200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr10:5005600-5009600	Active TSS	Right Atrium	heart
8	chr10:5005800-5009000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr10:5005800-5011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
11	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
12	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
13	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
14	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:5006200-5011000	Weak transcription	Ovary	ovary
16	chr10:5006200-5011200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:5006800-5010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr10:5006800-5011200	Weak transcription	Osteobl	bone
19	chr10:5007000-5008000	Weak transcription	Stomach Mucosa	stomach
20	chr10:5007200-5008600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:5007200-5009400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:5007200-5010600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:5007200-5011200	Weak transcription	Aorta	Aorta
24	chr10:5007200-5011600	Weak transcription	Fetal Heart	heart
25	chr10:5007200-5021600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:5007200-5023200	Weak transcription	Fetal Intestine Large	intestine
27	chr10:5007200-5023600	Weak transcription	Fetal Intestine Small	intestine
28	chr10:5007200-5023800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:5007400-5008000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:5007400-5008000	Active TSS	A549	lung
31	chr10:5007400-5008000	Enhancers	NHDF-Ad	bronchial
32	chr10:5007400-5008200	Enhancers	Fetal Brain Male	brain
33	chr10:5007400-5010800	Weak transcription	Fetal Brain Female	brain
34	chr10:5007400-5011000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:5007400-5023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:5007400-5023800	Weak transcription	Right Ventricle	heart
37	chr10:5007400-5024200	Weak transcription	NHEK	skin
38	chr10:5007600-5010800	Weak transcription	Brain Germinal Matrix	brain
39	chr10:5007800-5008000	Enhancers	Small Intestine	intestine
40	chr10:5007800-5008000	Flanking Active TSS	HepG2	liver
41	chr10:5007800-5008000	Flanking Active TSS	K562	blood
42	chr10:5007800-5008200	Flanking Active TSS	Adipose Nuclei	Adipose

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