Variant report

Variant	rs2499612
Chromosome Location	chr6:114315276-114315277
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	chr6:114312767..114315611-chr6:114383913..114386855,2	MCF-7	breast:
2	chr20:55711551..55713264-chr6:114314091..114316140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249853	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11758632	1.00[CHB][hapmap]
rs17792118	1.00[CHB][hapmap]
rs2475617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475619	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2475620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475621	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475622	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2475623	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475624	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475625	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475626	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499610	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2499611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499613	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499616	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2499620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4296916	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4296917	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4551200	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4945985	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6568821	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6568824	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748936	1.00[CHB][hapmap]
rs9320476	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9320477	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9374432	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9398370	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9488300	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488301	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488302	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488303	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488304	0.88[AMR][1000 genomes];0.96[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114308600-114315600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114309400-114318600	Weak transcription	Right Atrium	heart
3	chr6:114311200-114315400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:114311600-114317000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:114311600-114317000	Weak transcription	Placenta	Placenta
6	chr6:114311800-114332400	Weak transcription	Fetal Brain Female	brain
7	chr6:114313000-114316200	Weak transcription	Fetal Intestine Small	intestine
8	chr6:114313200-114316200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:114314600-114331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:114315200-114315400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:114315200-114315400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:114315200-114315400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr6:114315200-114316200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:114315200-114316400	Enhancers	HSMMtube	muscle

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