Variant report

Variant	rs739809
Chromosome Location	chr12:120706384-120706385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
2	chr12:120703812..120708110-chr12:120710658..120713817,5	MCF-7	breast:
3	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
4	chr12:120704439..120706873-chr12:120717613..120720324,2	MCF-7	breast:
5	chr12:120636814..120640513-chr12:120703939..120707132,3	K562	blood:

Variant related genes	Relation type
ENSG00000089157	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10849739	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065061	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065064	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1151824	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1151825	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1151827	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1151830	0.94[EUR][1000 genomes]
rs1151832	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1151837	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1182860	0.98[EUR][1000 genomes]
rs11831552	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1183781	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12164847	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12305146	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12308431	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12321884	0.83[AMR][1000 genomes]
rs12581983	0.84[AMR][1000 genomes]
rs1634814	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1634815	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2006194	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2238156	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2238157	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239208	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283364	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs2283365	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2524391	0.98[EUR][1000 genomes]
rs3759397	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3888587	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3888588	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3890165	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3956833	0.91[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767886	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61198412	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7300273	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953949	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966099	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120704000-120706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:120704000-120706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:120704000-120721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120704400-120714400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:120704600-120714200	Weak transcription	Placenta	Placenta
6	chr12:120705000-120706600	Enhancers	Fetal Intestine Large	intestine
7	chr12:120705000-120706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:120705200-120706400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:120705200-120706400	Enhancers	Liver	Liver
10	chr12:120705200-120706400	Enhancers	Colonic Mucosa	Colon
11	chr12:120705200-120706400	Enhancers	HUVEC	blood vessel
12	chr12:120705200-120706800	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:120705400-120706400	Enhancers	Fetal Intestine Small	intestine
14	chr12:120705400-120706800	Enhancers	Stomach Mucosa	stomach
15	chr12:120705800-120707400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:120706200-120706400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:120706200-120706400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:120706200-120706400	Enhancers	HepG2	liver

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