Variant report

Variant	rs7975529
Chromosome Location	chr12:119602018-119602019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119599469..119604282-chr12:119615525..119619643,5	MCF-7	breast:
2	chr12:119598755..119600296-chr12:119601799..119603390,2	MCF-7	breast:
3	chr12:119601217..119604104-chr12:119604758..119606634,2	MCF-7	breast:
4	chr12:119600994..119603643-chr12:119606826..119608409,2	K562	blood:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11064683	1.00[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap]
rs11064685	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064694	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11064695	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11064699	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11064701	0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11064704	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs12811848	1.00[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12812680	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs34109560	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34168259	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34658242	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34689026	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35911573	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36005387	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782919	0.80[EUR][1000 genomes]
rs66886955	0.89[EUR][1000 genomes]
rs67681082	0.91[EUR][1000 genomes]
rs68062239	0.80[EUR][1000 genomes]
rs68067444	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7137377	0.81[ASN][1000 genomes]
rs7138273	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs7303637	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7304005	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73213443	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73213444	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634173	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119592800-119603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119595200-119602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119595600-119609000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:119597400-119613800	Weak transcription	Aorta	Aorta
5	chr12:119598400-119613800	Weak transcription	Right Atrium	heart
6	chr12:119599200-119604400	Weak transcription	Psoas Muscle	Psoas
7	chr12:119599400-119603400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:119599600-119603000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:119601600-119602200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:119601800-119602200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links