Variant report

Variant	rs4300303
Chromosome Location	chr10:4986953-4986954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10751993	0.82[ASN][1000 genomes]
rs10751994	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751995	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10795213	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10904378	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812668	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4323780	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4378292	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4427477	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7067963	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076643	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7096523	0.83[EUR][1000 genomes]
rs7099377	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8181448	0.88[EUR][1000 genomes];0.82[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	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
12	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
13	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
14	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
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4300303	AKR1C1	cis	Whole Blood	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4968600-4990800	Weak transcription	Primary T cells from cord blood	blood
2	chr10:4973000-5005600	Weak transcription	Left Ventricle	heart
3	chr10:4973200-4994800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:4974000-4990600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:4974200-4990600	Weak transcription	Esophagus	oesophagus
6	chr10:4977800-4988200	Weak transcription	Pancreas	Pancrea
7	chr10:4981400-4987600	Enhancers	Hela-S3	cervix
8	chr10:4982000-4989600	Enhancers	HepG2	liver
9	chr10:4982200-4987400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:4983200-4987000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:4983400-4987200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:4983600-4987200	Enhancers	Osteobl	bone
13	chr10:4983600-4991600	Enhancers	Adipose Nuclei	Adipose
14	chr10:4983800-4987000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr10:4984000-4987000	Enhancers	HSMM	muscle
16	chr10:4984000-4988000	Enhancers	NHDF-Ad	bronchial
17	chr10:4984000-4990400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:4984200-4987200	Weak transcription	Fetal Intestine Small	intestine
19	chr10:4984200-4989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:4984800-4988400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:4985000-4987200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:4985000-4989000	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:4985000-4989200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:4985400-4988000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:4985400-4990600	Weak transcription	Right Atrium	heart
26	chr10:4985600-4989000	Weak transcription	Stomach Mucosa	stomach
27	chr10:4985600-4989000	Weak transcription	NHEK	skin
28	chr10:4985600-4989200	Weak transcription	HMEC	breast
29	chr10:4985600-4989400	Weak transcription	NH-A	brain
30	chr10:4985600-4989800	Weak transcription	HUVEC	blood vessel
31	chr10:4985600-4990400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:4985800-4989400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:4986000-4987600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:4986000-4987600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:4986000-4990000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:4986200-4987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr10:4986200-4989200	Weak transcription	Fetal Lung	lung
38	chr10:4986200-4990000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:4986400-4987000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr10:4986400-4987600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr10:4986400-4987600	Weak transcription	Aorta	Aorta
42	chr10:4986400-4988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:4986400-4989000	Weak transcription	NHLF	lung
44	chr10:4986400-4990400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:4986600-4987000	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:4986600-4987200	Weak transcription	Liver	Liver
47	chr10:4986600-4989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:4986600-4989400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:4986600-4990000	Weak transcription	Ovary	ovary
50	chr10:4986600-4990200	Weak transcription	Fetal Stomach	stomach

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