Variant report

Variant	rs7901384
Chromosome Location	chr10:4973690-4973691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4973639..4975791-chr10:5115008..5116577,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10159511	0.82[JPT][hapmap]
rs10795213	0.82[CEU][hapmap]
rs11252834	0.85[CEU][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes]
rs11252835	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12255269	0.85[JPT][hapmap]
rs12257530	0.81[AMR][1000 genomes]
rs12257546	0.83[AMR][1000 genomes]
rs12264270	0.83[AMR][1000 genomes]
rs12268038	0.92[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3812666	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3812667	0.84[ASW][hapmap];0.96[CEU][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3902925	0.92[CEU][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs4255441	0.92[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4323780	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs4339935	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[ASN][1000 genomes]
rs4342925	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4364963	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4375349	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4397736	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4427477	0.85[CEU][hapmap]
rs4518997	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4528219	0.96[CEU][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4550138	0.81[CEU][hapmap]
rs4596966	0.92[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs4626969	0.81[EUR][1000 genomes]
rs4644570	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601872	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6601875	0.91[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6601876	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7076643	0.85[CEU][hapmap]
rs7076792	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7081411	0.82[JPT][hapmap]
rs7081421	0.92[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7093917	0.92[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7096506	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7098390	0.82[JPT][hapmap]
rs7099473	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7914666	0.92[CEU][hapmap];0.83[CHB][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs7921514	0.84[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8181448	0.82[CEU][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	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	nsv1042940	chr10:4916614-4974581	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	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
12	nsv894793	chr10:4935482-4988818	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7901384	AKR1C1	cis	Whole Blood	GTEx
rs7901384	AKR1C2	cis	parietal	SCAN
rs7901384	C9orf43	trans	cerebellum	SCAN
rs7901384	ATP5C1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4960800-4973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:4967800-4983800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr10:4968600-4981200	Weak transcription	A549	lung
4	chr10:4968600-4990800	Weak transcription	Primary T cells from cord blood	blood
5	chr10:4969800-4983600	Weak transcription	Adipose Nuclei	Adipose
6	chr10:4970400-4973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:4971600-4977000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:4972400-4977800	Enhancers	Stomach Mucosa	stomach
9	chr10:4973000-4984800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:4973000-5005600	Weak transcription	Left Ventricle	heart
11	chr10:4973200-4975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:4973200-4983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:4973200-4994800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:4973400-4974600	Enhancers	Pancreas	Pancrea
15	chr10:4973600-4973800	Weak transcription	K562	blood
16	chr10:4973600-4974000	Enhancers	Gastric	stomach
17	chr10:4973600-4974200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:4973600-4974200	Enhancers	Ovary	ovary
19	chr10:4973600-4974800	Enhancers	Liver	Liver

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