Variant report

Variant	rs12031478
Chromosome Location	chr1:92074734-92074735
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	chr1:92067249..92070219-chr1:92074709..92076906,3	K562	blood:
2	chr1:92067249..92070219-chr1:92074709..92076665,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1041159	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1041160	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10782974	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10782975	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874824	0.85[ASN][1000 genomes]
rs10874830	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874833	0.81[AMR][1000 genomes]
rs11165071	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165072	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800345	0.83[ASN][1000 genomes]
rs1192404	0.96[ASN][1000 genomes]
rs1192408	0.95[ASN][1000 genomes]
rs1192411	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1192413	0.90[ASN][1000 genomes]
rs1192414	1.00[ASN][1000 genomes]
rs1192415	1.00[ASN][1000 genomes]
rs1192419	1.00[ASN][1000 genomes]
rs12028715	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12032884	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036943	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037771	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122877	0.82[ASN][1000 genomes]
rs12124960	0.83[ASN][1000 genomes]
rs2136115	1.00[ASN][1000 genomes]
rs2136116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840239	1.00[ASN][1000 genomes]
rs35308020	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658101	1.00[ASN][1000 genomes]
rs4658103	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658246	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604047	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6604048	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6604049	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671034	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs981554	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv947497	chr1:92067233-92076450	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
3	chr1:92070200-92075600	Weak transcription	Right Atrium	heart
4	chr1:92070600-92074800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92070600-92074800	Weak transcription	Left Ventricle	heart
6	chr1:92070800-92074800	Weak transcription	HSMMtube	muscle
7	chr1:92071600-92075000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:92072400-92075400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:92072600-92076200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:92072600-92077600	Weak transcription	Ovary	ovary
11	chr1:92073400-92078000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:92073400-92078200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:92073800-92079400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:92074000-92080000	Enhancers	NHDF-Ad	bronchial
15	chr1:92074200-92075200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:92074200-92076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:92074200-92077600	Enhancers	NHEK	skin
18	chr1:92074200-92077800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:92074400-92074800	Enhancers	NHLF	lung
20	chr1:92074400-92075000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:92074400-92075600	Enhancers	Hela-S3	cervix
22	chr1:92074400-92075800	Enhancers	HSMM	muscle
23	chr1:92074400-92076000	Enhancers	HMEC	breast
24	chr1:92074400-92076000	Enhancers	Osteobl	bone
25	chr1:92074400-92076200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:92074400-92076600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:92074400-92076600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:92074400-92078200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:92074400-92078200	Enhancers	Placenta	Placenta
30	chr1:92074400-92078800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:92074600-92074800	Enhancers	HepG2	liver
32	chr1:92074600-92075400	Enhancers	Fetal Heart	heart
33	chr1:92074600-92075600	Enhancers	Colon Smooth Muscle	Colon
34	chr1:92074600-92075800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:92074600-92075800	Flanking Active TSS	A549	lung
36	chr1:92074600-92076200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:92074600-92078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links