Variant report

Variant	rs2622730
Chromosome Location	chr3:137813444-137813445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1107422	0.94[ASN][1000 genomes]
rs11719358	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13100360	0.97[ASN][1000 genomes]
rs1351446	0.88[ASN][1000 genomes]
rs1444577	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1444578	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1545816	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1564496	0.90[ASN][1000 genomes]
rs17838821	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs179282	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2170309	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2246945	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2589259	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2589260	0.81[EUR][1000 genomes]
rs2622697	0.90[ASN][1000 genomes]
rs2622698	0.88[ASN][1000 genomes]
rs2622704	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2622705	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2622706	0.89[ASN][1000 genomes]
rs2622707	0.89[ASN][1000 genomes]
rs2622709	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2622710	0.92[ASN][1000 genomes]
rs2622711	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2622714	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2622715	0.96[ASN][1000 genomes]
rs2622716	0.96[ASN][1000 genomes]
rs2622717	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2622718	0.96[ASN][1000 genomes]
rs2622719	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2622720	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2622724	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2622725	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2622726	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2622727	0.97[ASN][1000 genomes]
rs2622728	0.97[ASN][1000 genomes]
rs2622729	0.97[ASN][1000 genomes]
rs2622745	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2622746	0.90[ASN][1000 genomes]
rs2724679	0.82[ASN][1000 genomes]
rs2724687	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2724693	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2724694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2724695	0.89[ASN][1000 genomes]
rs2724697	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2724698	0.89[ASN][1000 genomes]
rs2724699	0.89[ASN][1000 genomes]
rs2724700	0.89[ASN][1000 genomes]
rs2724701	0.89[ASN][1000 genomes]
rs2724702	0.89[ASN][1000 genomes]
rs2724703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724704	0.89[ASN][1000 genomes]
rs2724705	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2724706	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2724707	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724708	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724713	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2724716	0.97[ASN][1000 genomes]
rs2724717	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724720	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724721	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724722	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724723	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724729	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs28480035	0.93[ASN][1000 genomes]
rs329381	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs329382	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs329383	0.96[ASN][1000 genomes]
rs329384	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs329385	0.97[ASN][1000 genomes]
rs329388	0.88[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs329389	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329390	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329391	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs365504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs367439	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs374045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs382629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs384828	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs389697	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs390729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405517	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs405602	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs407009	0.89[ASN][1000 genomes]
rs419075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs425938	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs436145	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs442800	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs445025	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs446644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs452195	0.89[ASN][1000 genomes]
rs453023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4678403	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs618553	0.92[ASN][1000 genomes]
rs6809258	0.93[ASN][1000 genomes]
rs7613955	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629243	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7639197	0.96[ASN][1000 genomes]
rs899983	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9812778	0.88[ASN][1000 genomes]
rs9814877	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9834462	0.90[ASN][1000 genomes]
rs9834670	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9842648	0.89[ASN][1000 genomes]
rs9842918	0.92[ASN][1000 genomes]
rs9857908	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9860229	0.90[ASN][1000 genomes]
rs9860630	0.86[ASN][1000 genomes]
rs9874211	0.87[ASN][1000 genomes]
rs996432	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
3	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
4	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:137801600-137820600	Weak transcription	Spleen	Spleen
6	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:137801800-137815200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:137802200-137818200	Weak transcription	Hela-S3	cervix
9	chr3:137802400-137823200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:137802600-137822200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:137803200-137815600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
13	chr3:137803400-137820200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:137803400-137822400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:137803600-137816200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:137803800-137813600	Weak transcription	Liver	Liver
17	chr3:137805200-137823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:137805200-137823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:137805600-137829800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:137805800-137816400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:137805800-137816400	Weak transcription	Gastric	stomach
22	chr3:137805800-137819000	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:137805800-137820600	Weak transcription	Fetal Intestine Small	intestine
24	chr3:137805800-137822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:137806800-137813600	Weak transcription	Lung	lung
26	chr3:137807000-137821600	Weak transcription	Brain Anterior Caudate	brain
27	chr3:137807000-137822200	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:137807400-137820600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:137807400-137820600	Weak transcription	Right Ventricle	heart
30	chr3:137807600-137818600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:137807600-137822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:137807800-137818800	Weak transcription	Pancreas	Pancrea
33	chr3:137807800-137819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:137808000-137814000	Strong transcription	Adipose Nuclei	Adipose
35	chr3:137808000-137821200	Weak transcription	HSMMtube	muscle
36	chr3:137808800-137819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:137808800-137830800	Weak transcription	NHEK	skin
38	chr3:137809200-137814200	Strong transcription	HSMM	muscle
39	chr3:137809800-137814000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:137810000-137814000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:137810000-137814800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:137810800-137813800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:137811000-137814200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:137811000-137814200	Strong transcription	Left Ventricle	heart
45	chr3:137811000-137817400	Strong transcription	Fetal Lung	lung
46	chr3:137811200-137813800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:137811400-137813800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:137811400-137813800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:137811400-137814000	Strong transcription	Fetal Kidney	kidney
50	chr3:137811400-137814200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links