Variant report

Variant	rs12665949
Chromosome Location	chr7:50870148-50870149
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50859210..50863634-chr7:50868604..50872956,5	K562	blood:
2	chr7:50864527..50866191-chr7:50870098..50872928,2	K562	blood:
3	chr7:50869664..50871452-chr7:50874816..50876730,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1014384	0.82[CEU][hapmap]
rs10239980	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10272063	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10273302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10278363	0.93[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10486761	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs11238326	0.93[CEU][hapmap]
rs11238337	0.93[CEU][hapmap]
rs11238339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11983539	0.93[CEU][hapmap]
rs12536500	0.81[JPT][hapmap]
rs12718928	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17134002	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs1962390	0.81[JPT][hapmap]
rs1978208	0.86[CEU][hapmap]
rs2051893	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2051894	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051897	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074722	0.88[CEU][hapmap]
rs2074723	0.93[CHB][hapmap]
rs2286154	0.84[CEU][hapmap]
rs2301925	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329424	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs2329494	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs2715119	0.87[CEU][hapmap]
rs3779072	0.87[CEU][hapmap]
rs4947861	0.93[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947873	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947888	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593164	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs6593174	0.87[CEU][hapmap]
rs6593182	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6943901	0.93[CEU][hapmap]
rs6963498	0.93[CEU][hapmap]
rs6968827	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs6971834	0.93[CEU][hapmap]
rs6979369	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs757773	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs757774	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs7780348	0.80[JPT][hapmap]
rs7782797	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs7783789	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7786917	0.94[CEU][hapmap]
rs7794164	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794299	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs7805310	0.92[CHB][hapmap]
rs7808929	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809357	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809362	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50867200-50870200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr7:50867800-50871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:50867800-50871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50868000-50870600	Weak transcription	Pancreas	Pancrea
6	chr7:50868000-50880000	Weak transcription	Left Ventricle	heart
7	chr7:50869600-50870200	Enhancers	Spleen	Spleen
8	chr7:50870000-50871000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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