Variant report

Variant	rs1397771
Chromosome Location	chr4:121734305-121734306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10006287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026533	0.83[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1015219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10518380	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11098586	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11943025	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12499586	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12499872	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12501914	0.87[ASN][1000 genomes]
rs12503895	0.87[ASN][1000 genomes]
rs12507367	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12510578	0.85[AMR][1000 genomes]
rs12513227	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12639772	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12644850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1397768	0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1397769	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1397773	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1397774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1450461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1463785	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1511302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1588524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1597491	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs168226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17051240	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17051244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17051254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17051259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051271	0.87[ASN][1000 genomes]
rs17051275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs171068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1809075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1849075	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2136999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2167208	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2667171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28488919	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28810489	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs343189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3804170	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804175	0.89[ASN][1000 genomes]
rs3827584	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833182	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4833670	0.88[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4833671	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833672	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833688	0.85[ASN][1000 genomes]
rs4833689	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6813562	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6855578	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72678303	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72678309	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72678319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678324	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680418	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72680432	0.87[ASN][1000 genomes]
rs72680433	0.87[ASN][1000 genomes]
rs72680438	0.87[ASN][1000 genomes]
rs72680440	0.87[ASN][1000 genomes]
rs72680445	0.87[ASN][1000 genomes]
rs72680451	0.85[ASN][1000 genomes]
rs72680477	0.85[AMR][1000 genomes]
rs896060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs994831	0.91[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879856	chr4:121697932-121737767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:121722800-121737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:121723000-121738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart
5	chr4:121726400-121743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:121727200-121739000	Weak transcription	Gastric	stomach
7	chr4:121729000-121738000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:121729200-121737400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:121729400-121737400	Weak transcription	Left Ventricle	heart
10	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:121730200-121737400	Weak transcription	Ovary	ovary
12	chr4:121730200-121737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:121730200-121744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:121730200-121753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:121730400-121737400	Weak transcription	Lung	lung
16	chr4:121730400-121737600	Weak transcription	Aorta	Aorta
17	chr4:121730400-121745800	Weak transcription	Fetal Stomach	stomach
18	chr4:121730400-121746600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
21	chr4:121731200-121752400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:121731400-121737400	Weak transcription	NHDF-Ad	bronchial
23	chr4:121731400-121742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:121731600-121737400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:121731600-121739800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:121731600-121743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:121731800-121743200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:121731800-121743200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:121731800-121746200	Weak transcription	Fetal Intestine Small	intestine
30	chr4:121732000-121736400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:121732000-121737800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:121732000-121743400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:121732000-121746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:121732000-121747600	Weak transcription	Fetal Lung	lung
35	chr4:121732200-121734600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:121732200-121754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:121733400-121737400	Weak transcription	Adipose Nuclei	Adipose
38	chr4:121733400-121744800	Weak transcription	Right Ventricle	heart
39	chr4:121734000-121738200	Weak transcription	NHEK	skin

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