Variant report

Variant	rs12195376
Chromosome Location	chr6:39272866-39272867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39133923..39134830-chr6:39272711..39273440,3	MCF-7	breast:
2	chr6:39133996..39134734-chr6:39272385..39273221,2	MCF-7	breast:
3	chr6:39153346..39156056-chr6:39270382..39273616,3	K562	blood:
4	chr6:39074321..39077012-chr6:39271539..39273680,2	MCF-7	breast:
5	chr6:39131553..39138589-chr6:39265255..39275264,18	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10947801	0.88[ASN][1000 genomes]
rs10947802	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11753890	0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11961984	0.97[ASN][1000 genomes]
rs12194671	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12202277	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12202455	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12207643	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12209091	0.88[ASN][1000 genomes]
rs12210847	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12211098	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13194563	0.80[EUR][1000 genomes]
rs13214473	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535497	0.94[ASN][1000 genomes]
rs1885616	0.88[ASN][1000 genomes]
rs1885617	0.88[ASN][1000 genomes]
rs1885618	0.88[ASN][1000 genomes]
rs1885621	0.88[ASN][1000 genomes]
rs2758882	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758883	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758884	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758885	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758887	0.88[ASN][1000 genomes]
rs2758888	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758889	0.88[ASN][1000 genomes]
rs2758890	0.88[ASN][1000 genomes]
rs2758891	0.88[ASN][1000 genomes]
rs2758893	0.88[ASN][1000 genomes]
rs2758894	0.88[ASN][1000 genomes]
rs2758895	0.84[ASN][1000 genomes]
rs2758897	0.88[ASN][1000 genomes]
rs2758898	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758899	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758900	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2815048	0.88[ASN][1000 genomes]
rs2815049	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2815050	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2815051	0.88[ASN][1000 genomes]
rs2815052	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2815053	0.81[ASN][1000 genomes]
rs2815054	0.88[ASN][1000 genomes]
rs2815057	0.88[ASN][1000 genomes]
rs36044810	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4714234	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4714235	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59582961	0.86[ASN][1000 genomes]
rs62397166	0.81[ASN][1000 genomes]
rs62397167	0.88[ASN][1000 genomes]
rs62397168	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71556989	0.86[ASN][1000 genomes]
rs734408	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9462515	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9471040	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9471043	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs9471045	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv830645	chr6:39227601-39408310	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv533806	chr6:39270073-39397337	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:39265600-39280800	Weak transcription	Right Atrium	heart
2	chr6:39271000-39275000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:39271000-39278800	Weak transcription	Fetal Thymus	thymus
4	chr6:39272600-39273400	Enhancers	Colonic Mucosa	Colon
5	chr6:39272600-39273600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:39272800-39273000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:39272800-39273000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr6:39272800-39273200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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