Variant report

Variant	rs7571231
Chromosome Location	chr2:36726921-36726922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36726450..36728384-chr2:36733082..36736034,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1179500	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11886869	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890094	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893748	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403857	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403858	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018901	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021870	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2022210	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770839	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770844	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770845	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899034	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670562	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60970158	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61077474	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs711249	0.90[CEU][hapmap]
rs7571475	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598753	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848530	0.90[CEU][hapmap]
rs848533	0.81[CEU][hapmap]
rs848537	1.00[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs848538	0.85[CEU][hapmap]
rs848541	0.82[EUR][1000 genomes]
rs950420	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955601	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3395718	chr2:36725359-36730447	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3516474	chr2:36725388-36730472	Genic enhancers Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3516475	chr2:36725403-36730432	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7571231	RASGRP3	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
7	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
10	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
11	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
13	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:36717200-36733000	Genic enhancers	A549	lung
15	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:36717600-36727000	Strong transcription	HepG2	liver
17	chr2:36720000-36734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:36720400-36739200	Weak transcription	Fetal Heart	heart
20	chr2:36720800-36728200	Strong transcription	Osteobl	bone
21	chr2:36720800-36728800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:36720800-36739200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:36721400-36737200	Strong transcription	HSMM	muscle
24	chr2:36721600-36729600	Strong transcription	NHEK	skin
25	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
26	chr2:36722200-36734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:36722400-36739800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:36723600-36727000	Strong transcription	NHDF-Ad	bronchial
30	chr2:36723800-36727200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:36724000-36740600	Weak transcription	Psoas Muscle	Psoas
32	chr2:36724400-36731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:36725000-36734000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:36725200-36727600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:36725200-36729800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:36725200-36731800	Strong transcription	HMEC	breast
37	chr2:36725200-36739200	Strong transcription	NH-A	brain
38	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:36725400-36730000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:36725400-36731400	Strong transcription	HSMMtube	muscle
41	chr2:36725400-36734800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:36725600-36728000	Strong transcription	Rectal Smooth Muscle	rectum
43	chr2:36725600-36729200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:36725600-36729200	Strong transcription	NHLF	lung
45	chr2:36725600-36734000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:36726000-36728000	Strong transcription	Fetal Lung	lung
47	chr2:36726000-36728200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:36726000-36732400	Strong transcription	Fetal Intestine Large	intestine
49	chr2:36726200-36727600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:36726200-36732000	Strong transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links