Variant report

Variant	rs12046294
Chromosome Location	chr1:47793855-47793856
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	chr1:47789007..47791037-chr1:47792198..47794063,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10789507	0.86[EUR][1000 genomes]
rs10890475	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10890476	0.96[EUR][1000 genomes]
rs10890477	0.85[EUR][1000 genomes]
rs10890478	0.86[EUR][1000 genomes]
rs11211504	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11211508	0.96[EUR][1000 genomes]
rs11211513	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11211520	0.85[EUR][1000 genomes]
rs11211521	0.84[EUR][1000 genomes]
rs11211522	0.86[EUR][1000 genomes]
rs11211523	0.86[EUR][1000 genomes]
rs11211524	0.86[EUR][1000 genomes]
rs11578038	0.91[EUR][1000 genomes]
rs11582877	0.88[EUR][1000 genomes]
rs12024163	0.89[EUR][1000 genomes]
rs12040451	0.94[EUR][1000 genomes]
rs12042624	0.96[EUR][1000 genomes]
rs12047319	0.96[EUR][1000 genomes]
rs12048407	0.85[EUR][1000 genomes]
rs12409549	0.94[EUR][1000 genomes]
rs12566521	0.89[EUR][1000 genomes]
rs2472730	0.83[EUR][1000 genomes]
rs2472731	0.82[EUR][1000 genomes]
rs2742099	0.86[EUR][1000 genomes]
rs2742103	0.86[EUR][1000 genomes]
rs2758744	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2821089	0.86[EUR][1000 genomes]
rs2821092	0.84[EUR][1000 genomes]
rs3122616	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3125631	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3125635	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3125636	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3125644	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4926836	0.86[EUR][1000 genomes]
rs4926839	0.86[EUR][1000 genomes]
rs56987466	0.96[EUR][1000 genomes]
rs58688029	0.87[EUR][1000 genomes]
rs59492977	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61284456	0.85[EUR][1000 genomes]
rs61782712	0.89[EUR][1000 genomes]
rs61782733	0.93[EUR][1000 genomes]
rs61784774	0.85[EUR][1000 genomes]
rs6697248	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7511699	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7532148	0.87[EUR][1000 genomes]
rs7541522	0.86[EUR][1000 genomes]
rs7545281	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9436394	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9436429	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9436430	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
2	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
3	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:47789800-47794400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:47789800-47796200	Weak transcription	K562	blood
6	chr1:47790200-47797400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:47790600-47797000	Weak transcription	Pancreas	Pancrea
8	chr1:47790600-47797800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:47791800-47797600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:47791800-47798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:47792400-47797600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:47792400-47797800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:47792600-47795000	Weak transcription	Fetal Stomach	stomach
14	chr1:47792600-47798000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:47792600-47798400	Weak transcription	Primary T cells from cord blood	blood
16	chr1:47792800-47798600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:47793200-47797600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:47793200-47797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:47793400-47796600	Weak transcription	Esophagus	oesophagus
20	chr1:47793600-47797400	Weak transcription	Fetal Brain Female	brain
21	chr1:47793600-47798000	Weak transcription	Left Ventricle	heart

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