Variant report

Variant	rs12156164
Chromosome Location	chr8:104251158-104251159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104240144..104242443-chr8:104249036..104251260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253851	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12675012	0.94[AMR][1000 genomes]
rs12680121	1.00[AFR][1000 genomes]
rs1389689	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1494279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608184	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1610204	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16870235	0.82[EUR][1000 genomes]
rs16870276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801975	1.00[AFR][1000 genomes]
rs17802011	1.00[AFR][1000 genomes]
rs2687355	1.00[AFR][1000 genomes]
rs2917546	1.00[CEU][hapmap]
rs2917547	1.00[CEU][hapmap]
rs2934725	1.00[AFR][1000 genomes]
rs56356799	0.81[EUR][1000 genomes]
rs59299635	0.92[EUR][1000 genomes]
rs62525463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62525464	0.94[EUR][1000 genomes]
rs62525466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62525469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527572	1.00[AFR][1000 genomes]
rs62527574	1.00[AFR][1000 genomes]
rs62527608	1.00[AFR][1000 genomes]
rs62527612	1.00[AFR][1000 genomes]
rs62527613	1.00[AFR][1000 genomes]
rs62527647	0.81[EUR][1000 genomes]
rs62527649	0.84[EUR][1000 genomes]
rs62527652	0.80[EUR][1000 genomes]
rs62528473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62528474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62528478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6468868	1.00[AFR][1000 genomes]
rs7005750	1.00[AFR][1000 genomes]
rs72673322	0.84[EUR][1000 genomes]
rs7815503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7841861	0.94[AMR][1000 genomes]
rs827525	1.00[AFR][1000 genomes]
rs827531	1.00[AFR][1000 genomes]
rs827543	1.00[AFR][1000 genomes]
rs827545	1.00[CEU][hapmap]
rs827549	1.00[AFR][1000 genomes]
rs861169	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104242400-104251200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104242400-104251200	Weak transcription	HMEC	breast
3	chr8:104244000-104251200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:104244200-104251400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:104244600-104257400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:104245600-104254800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:104248400-104259800	Weak transcription	NHLF	lung
9	chr8:104249000-104251200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:104249400-104251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:104249600-104251200	Weak transcription	NHDF-Ad	bronchial
12	chr8:104249600-104251200	Weak transcription	Osteobl	bone
13	chr8:104249800-104251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:104251000-104252000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:104251000-104252200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:104251000-104252200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:104251000-104252200	Enhancers	HUVEC	blood vessel

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