Variant report

Variant	rs4672554
Chromosome Location	chr2:210338352-210338353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10173260	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10208979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1031461	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10737939	0.98[ASN][1000 genomes]
rs10737940	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11686346	0.93[ASN][1000 genomes]
rs11687844	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12052799	0.98[ASN][1000 genomes]
rs12053460	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2123700	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2198475	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2198476	0.93[ASN][1000 genomes]
rs2198477	0.93[ASN][1000 genomes]
rs2198478	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2219085	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2365657	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2365658	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs288046	0.91[ASN][1000 genomes]
rs288048	0.85[EUR][1000 genomes]
rs288049	0.85[EUR][1000 genomes]
rs288052	0.96[CEU][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs288062	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs288064	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs288065	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs288067	0.93[ASN][1000 genomes]
rs288068	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2886435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2886436	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673481	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6435530	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6435531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6728378	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6738205	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6740822	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7559831	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7561678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7562585	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7568354	0.98[ASN][1000 genomes]
rs7574854	0.95[ASN][1000 genomes]
rs7580512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7586196	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593377	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7601095	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852734	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9288409	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs997109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210319800-210341000	Weak transcription	Fetal Brain Female	brain
2	chr2:210328200-210340000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:210329600-210339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:210332800-210351200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:210333800-210340800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:210335600-210339200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:210335600-210339200	Enhancers	NHEK	skin
8	chr2:210335600-210339400	Enhancers	HMEC	breast
9	chr2:210335600-210342400	Enhancers	Hela-S3	cervix
10	chr2:210336800-210338800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:210336800-210338800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:210336800-210338800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:210336800-210339200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:210336800-210339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:210336800-210339400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:210336800-210339400	Enhancers	NHDF-Ad	bronchial
17	chr2:210336800-210339400	Enhancers	Osteobl	bone
18	chr2:210336800-210339600	Enhancers	NHLF	lung
19	chr2:210336800-210340000	Enhancers	HUVEC	blood vessel
20	chr2:210337000-210339000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:210337000-210339200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:210337000-210339600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:210337000-210339800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:210337200-210338600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:210337200-210339400	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:210337600-210338800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:210337600-210339200	Enhancers	Adipose Nuclei	Adipose
28	chr2:210337600-210339400	Weak transcription	Fetal Brain Male	brain
29	chr2:210337800-210338800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:210337800-210341200	Weak transcription	Brain Anterior Caudate	brain
31	chr2:210338000-210338400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:210338000-210338800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:210338000-210338800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:210338000-210338800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:210338000-210338800	Weak transcription	HSMM	muscle
36	chr2:210338000-210339400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:210338000-210339600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:210338000-210339600	Enhancers	A549	lung
39	chr2:210338000-210339800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:210338000-210339800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:210338000-210341200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:210338000-210341200	Weak transcription	HSMMtube	muscle
43	chr2:210338000-210357400	Weak transcription	Aorta	Aorta
44	chr2:210338200-210338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:210338200-210338600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:210338200-210338600	Weak transcription	NH-A	brain

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