Variant report

Variant	rs8043234
Chromosome Location	chr15:32980018-32980019
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	chr15:32979184..32981622-chr15:32988121..32990602,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12438604	0.90[YRI][hapmap]
rs16965254	1.00[CEU][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28417809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494587	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7177843	0.90[YRI][hapmap]
rs7178316	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024160	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469587	chr15:32821940-32986579	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482780	chr15:32821940-32986579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv568915	chr15:32965357-32994056	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv456787	chr15:32968923-33023951	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv568916	chr15:32968923-33023951	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:32961200-32980200	Weak transcription	Thymus	Thymus
2	chr15:32964600-32990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:32964800-32993800	Weak transcription	Fetal Brain Male	brain
4	chr15:32965000-32983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:32970000-32982600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:32973200-32986000	Weak transcription	Brain Germinal Matrix	brain
7	chr15:32974000-32981000	Enhancers	HMEC	breast
8	chr15:32975000-32983200	Weak transcription	Brain Substantia Nigra	brain
9	chr15:32975000-32983400	Weak transcription	Brain Angular Gyrus	brain
10	chr15:32975200-32980200	Weak transcription	Placenta	Placenta
11	chr15:32975200-32983400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:32975200-32983800	Weak transcription	Brain Anterior Caudate	brain
13	chr15:32975200-32986000	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:32976400-32980800	Enhancers	NHDF-Ad	bronchial
15	chr15:32976600-32980200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:32976600-32980200	Weak transcription	Fetal Brain Female	brain
17	chr15:32977000-32980400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:32977000-32983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:32977800-32980800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:32978000-32980200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:32978000-32982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:32978200-32980200	Weak transcription	HSMMtube	muscle
23	chr15:32978200-32980200	Weak transcription	HUVEC	blood vessel
24	chr15:32978400-32980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:32978400-32983400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:32978400-32984000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:32978600-32982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:32978800-32996400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:32979000-32980800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:32979200-32980800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:32979200-32980800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:32979400-32980400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr15:32979400-32980600	Enhancers	HepG2	liver
34	chr15:32979400-32980800	Enhancers	Liver	Liver
35	chr15:32979400-32980800	Enhancers	NH-A	brain
36	chr15:32979600-32980200	Enhancers	A549	lung
37	chr15:32979600-32980800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:32979600-32980800	Enhancers	Osteobl	bone
39	chr15:32979800-32980200	Enhancers	NHEK	skin
40	chr15:32979800-32980800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:32979800-32980800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:32979800-32980800	Enhancers	HSMM	muscle

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