Variant report

Variant	rs2276671
Chromosome Location	chr2:36771701-36771702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36769854..36772174-chr2:36774843..36776898,2	MCF-7	breast:
2	chr2:36763939..36768189-chr2:36769601..36773260,6	K562	blood:
3	chr2:36769080..36771978-chr2:36774034..36776648,2	K562	blood:
4	chr2:36762825..36765434-chr2:36770286..36772381,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1110127	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1179494	0.86[TSI][hapmap]
rs11886145	0.81[ASN][1000 genomes]
rs11894187	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11899523	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13013664	0.81[ASN][1000 genomes]
rs3770793	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3770796	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770818	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821150	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs711245	0.81[CEU][hapmap]
rs7570763	0.92[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs848596	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs848597	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs848600	0.85[JPT][hapmap]
rs848602	0.81[EUR][1000 genomes]
rs848603	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs848605	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs848606	0.84[CEU][hapmap]
rs848607	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs848617	0.82[CEU][hapmap]
rs848619	0.92[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs848622	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs848635	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs848636	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs848638	0.92[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs848642	0.92[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs848643	0.83[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs861919	0.85[JPT][hapmap]

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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2276671	CRIM1	cis	cerebellum	SCAN
rs2276671	FEZ2	cis	cerebellum	SCAN
rs2276671	FEZ2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:36747800-36774200	Weak transcription	Liver	Liver
6	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
9	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:36758400-36774200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:36758400-36779200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:36760000-36782000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:36762400-36783200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:36762800-36783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:36763000-36778600	Genic enhancers	HUVEC	blood vessel
18	chr2:36763200-36773000	Strong transcription	HSMMtube	muscle
19	chr2:36763200-36784200	Strong transcription	HepG2	liver
20	chr2:36763200-36785200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:36763600-36779200	Strong transcription	Primary B cells from cord blood	blood
22	chr2:36763600-36779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:36763800-36773000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:36764000-36774600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:36764200-36783400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:36764200-36783800	Strong transcription	Fetal Intestine Large	intestine
28	chr2:36764400-36773600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:36764400-36787200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:36764800-36774600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:36765000-36774600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:36765000-36778400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:36765200-36773400	Genic enhancers	Osteobl	bone
35	chr2:36765400-36775400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:36765600-36776400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:36765600-36778800	Weak transcription	Gastric	stomach
38	chr2:36765800-36776200	Weak transcription	Brain Substantia Nigra	brain
39	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
40	chr2:36766400-36772000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:36766400-36788600	Weak transcription	Fetal Brain Male	brain
42	chr2:36766600-36774600	Weak transcription	Pancreas	Pancrea
43	chr2:36766600-36781800	Weak transcription	K562	blood
44	chr2:36766800-36777400	Strong transcription	NHEK	skin
45	chr2:36766800-36782800	Strong transcription	HMEC	breast
46	chr2:36766800-36783200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:36766800-36783400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:36767400-36772200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:36767400-36772600	Strong transcription	HSMM	muscle
50	chr2:36767400-36780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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