Variant report

Variant	rs2970576
Chromosome Location	chr1:212100383-212100384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211907600..211909602-chr1:212100181..212103074,3	MCF-7	breast:
2	chr1:212001096..212006492-chr1:212099928..212102658,5	MCF-7	breast:
3	chr1:212099492..212101681-chr1:212107704..212109737,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233626	Chromatin interaction
ENSG00000229258	Chromatin interaction
ENSG00000123684	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap]
rs10863927	0.91[EUR][1000 genomes]
rs10863938	1.00[CEU][hapmap]
rs11119809	1.00[AMR][1000 genomes]
rs11119818	0.91[EUR][1000 genomes]
rs11119819	0.91[EUR][1000 genomes]
rs1418047	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1539196	0.86[EUR][1000 genomes]
rs2000168	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2050953	0.86[EUR][1000 genomes]
rs2105322	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788128	0.91[EUR][1000 genomes]
rs2788129	0.91[EUR][1000 genomes]
rs2788130	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788134	0.86[EUR][1000 genomes]
rs2788135	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788136	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788137	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788141	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788144	1.00[EUR][1000 genomes]
rs2788146	1.00[EUR][1000 genomes]
rs2808376	1.00[EUR][1000 genomes]
rs2808377	1.00[EUR][1000 genomes]
rs2808380	0.91[EUR][1000 genomes]
rs2808383	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2808387	0.91[EUR][1000 genomes]
rs2808390	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28475044	0.91[EUR][1000 genomes]
rs28851183	0.91[EUR][1000 genomes]
rs2970573	0.91[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2970575	0.91[EUR][1000 genomes]
rs2970581	1.00[EUR][1000 genomes]
rs2970585	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970586	1.00[CEU][hapmap]
rs2970600	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap]
rs2993525	1.00[CEU][hapmap]
rs2993527	1.00[CEU][hapmap]
rs2993530	0.86[EUR][1000 genomes]
rs2993532	0.86[EUR][1000 genomes]
rs2993536	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993537	0.86[EUR][1000 genomes]
rs2993540	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2993542	0.91[EUR][1000 genomes]
rs2993543	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993546	1.00[CEU][hapmap]
rs2993549	1.00[CEU][hapmap]
rs3009986	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009990	0.86[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3009994	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009995	0.86[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009998	0.86[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3010008	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3010014	1.00[CEU][hapmap]
rs3010015	1.00[CEU][hapmap]
rs3010017	1.00[CEU][hapmap]
rs3010018	1.00[CEU][hapmap]
rs3010022	1.00[CEU][hapmap]
rs4245744	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4397712	1.00[CEU][hapmap]
rs4508084	0.91[EUR][1000 genomes]
rs4579825	0.91[EUR][1000 genomes]
rs4951424	0.86[EUR][1000 genomes]
rs4951427	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951429	0.91[EUR][1000 genomes]
rs4951430	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4951432	0.91[EUR][1000 genomes]
rs4951437	1.00[CEU][hapmap]
rs4951547	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951549	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4951551	1.00[AMR][1000 genomes]
rs60146950	0.86[EUR][1000 genomes]
rs6540707	1.00[AMR][1000 genomes]
rs6540710	0.91[EUR][1000 genomes]
rs6656780	1.00[AMR][1000 genomes]
rs6656826	1.00[CEU][hapmap]
rs6658972	1.00[CEU][hapmap]
rs6664386	0.81[EUR][1000 genomes]
rs6669803	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6672030	1.00[CEU][hapmap]
rs6672393	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6685282	0.91[EUR][1000 genomes]
rs6689342	0.91[EUR][1000 genomes]
rs6693275	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6697341	0.91[EUR][1000 genomes]
rs6699292	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6699981	0.91[EUR][1000 genomes]
rs7413558	0.91[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7545377	0.91[EUR][1000 genomes]
rs7553567	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3339611	chr1:212098880-212100544	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
2	esv3510377	chr1:212098957-212100645	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv3510378	chr1:212099007-212100535	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212084800-212113000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212085400-212101800	Weak transcription	Colonic Mucosa	Colon
3	chr1:212091000-212102200	Weak transcription	Esophagus	oesophagus
4	chr1:212093800-212101800	Weak transcription	Gastric	stomach
5	chr1:212094200-212103200	Weak transcription	Small Intestine	intestine
6	chr1:212094400-212101400	Weak transcription	Stomach Mucosa	stomach
7	chr1:212094400-212102200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:212095400-212101800	Weak transcription	Right Atrium	heart
9	chr1:212096600-212101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:212098600-212101800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:212098600-212102000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:212098800-212100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:212098800-212100800	Weak transcription	NHEK	skin
14	chr1:212098800-212101000	Weak transcription	HMEC	breast
15	chr1:212098800-212101200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:212098800-212101200	Weak transcription	Hela-S3	cervix
17	chr1:212098800-212101400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:212098800-212101400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:212098800-212101600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:212098800-212101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:212098800-212101600	Weak transcription	HepG2	liver
22	chr1:212098800-212101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:212098800-212101800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:212098800-212106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:212099000-212100800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:212099000-212101400	Weak transcription	A549	lung
27	chr1:212099000-212101600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:212099200-212100600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:212099200-212100600	Weak transcription	Fetal Intestine Small	intestine
30	chr1:212099200-212101800	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:212099600-212101600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:212100000-212101400	Enhancers	K562	blood

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