Variant report

Variant	rs4267470
Chromosome Location	chr2:153563858-153563859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153029944..153031491-chr2:153562349..153565101,2	K562	blood:
2	chr2:153562736..153564418-chr2:153574258..153576951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177917	Chromatin interaction
ENSG00000196504	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10172024	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs10181485	0.88[ASN][1000 genomes]
rs10185455	0.85[YRI][hapmap]
rs10200667	0.90[ASN][1000 genomes]
rs1036526	0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1065266	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs10931229	0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1128804	0.85[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11544718	0.88[ASN][1000 genomes]
rs11899051	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12477881	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12621561	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997814	0.88[ASN][1000 genomes]
rs13005368	0.90[ASN][1000 genomes]
rs13010731	0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs13017428	0.90[ASN][1000 genomes]
rs13031469	0.80[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs13419068	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1370498	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs1437678	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs16831548	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs16831740	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs17328734	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs17400645	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs1962313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1992146	0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2118377	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2304556	0.80[CHB][hapmap]
rs2304559	0.88[ASN][1000 genomes]
rs2346534	0.88[ASN][1000 genomes]
rs2346539	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2346540	0.98[ASN][1000 genomes]
rs2346541	0.90[ASN][1000 genomes]
rs2346542	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2346543	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2346549	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346550	0.85[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs3171980	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs3175	0.81[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs34585982	0.82[ASN][1000 genomes]
rs34668102	0.88[ASN][1000 genomes]
rs3748937	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748938	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748939	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs3762503	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3762506	0.88[ASN][1000 genomes]
rs3762507	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs3811566	0.90[ASN][1000 genomes]
rs3811567	0.82[CHB][hapmap]
rs4233660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580346	0.94[ASN][1000 genomes]
rs4664121	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664122	0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4664601	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4664602	0.84[ASN][1000 genomes]
rs4664604	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.90[ASN][1000 genomes]
rs4664605	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664607	0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4664609	0.99[ASN][1000 genomes]
rs4664610	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs56283545	0.83[ASN][1000 genomes]
rs61049574	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434128	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs6434161	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs6434162	0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs6713779	0.88[ASN][1000 genomes]
rs6723574	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6727279	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6744923	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6746079	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6746321	0.88[ASN][1000 genomes]
rs6748160	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72871191	0.98[ASN][1000 genomes]
rs72872607	0.98[ASN][1000 genomes]
rs7556673	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558920	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559219	0.90[ASN][1000 genomes]
rs7560393	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7570759	0.90[ASN][1000 genomes]
rs7576152	0.87[ASN][1000 genomes]
rs7576847	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7582253	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7589899	0.81[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7592669	0.90[ASN][1000 genomes]
rs7593347	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7596408	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs7599946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605709	0.90[ASN][1000 genomes]
rs7608603	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288121	0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9288125	0.80[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs9288127	0.88[ASN][1000 genomes]
rs9646744	0.90[ASN][1000 genomes]
rs9789505	0.98[ASN][1000 genomes]
rs9789521	0.90[CHB][hapmap];0.95[JPT][hapmap];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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
3	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
5	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:153539600-153571800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:153539600-153572400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:153539600-153572400	Weak transcription	Pancreas	Pancrea
11	chr2:153544400-153568200	Weak transcription	Fetal Kidney	kidney
12	chr2:153551200-153567200	Weak transcription	Hela-S3	cervix
13	chr2:153551200-153568000	Weak transcription	Ovary	ovary
14	chr2:153551200-153571400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:153551200-153571800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:153551200-153571800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:153551200-153572400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:153551400-153566400	Weak transcription	HUVEC	blood vessel
19	chr2:153551400-153568400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:153551400-153571800	Weak transcription	HSMMtube	muscle
21	chr2:153552400-153567400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:153554200-153566800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:153554400-153565000	Weak transcription	Osteobl	bone
24	chr2:153556800-153568800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:153557200-153570000	Strong transcription	HepG2	liver
26	chr2:153557800-153567800	ZNF genes & repeats	GM12878-XiMat	blood
27	chr2:153557800-153572200	Strong transcription	Fetal Thymus	thymus
28	chr2:153558200-153573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:153558400-153565400	Weak transcription	NHDF-Ad	bronchial
30	chr2:153558600-153565000	Weak transcription	HSMM	muscle
31	chr2:153558600-153565400	Weak transcription	NH-A	brain
32	chr2:153558600-153572400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:153558600-153572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:153558600-153572400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:153558600-153572400	Weak transcription	NHLF	lung
36	chr2:153558800-153564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:153558800-153565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:153558800-153565200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:153558800-153565200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:153558800-153565200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:153558800-153565400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:153558800-153565400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:153558800-153565400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:153558800-153565400	Weak transcription	Colonic Mucosa	Colon
45	chr2:153558800-153566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:153558800-153566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:153558800-153568400	Weak transcription	Lung	lung
48	chr2:153558800-153571800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153558800-153571800	Weak transcription	Fetal Intestine Small	intestine
50	chr2:153558800-153572400	Weak transcription	Esophagus	oesophagus

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