Variant report

Variant	rs12334742
Chromosome Location	chr8:96070373-96070374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96068524..96071355-chr8:96097754..96100421,3	MCF-7	breast:
2	chr8:96056185..96059291-chr8:96067561..96070788,3	MCF-7	breast:
3	chr8:96069464..96073294-chr8:96111631..96115396,4	MCF-7	breast:
4	chr8:96070270..96072434-chr8:96124315..96127287,2	MCF-7	breast:
5	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:
6	chr8:96069296..96072093-chr8:96190510..96193088,2	MCF-7	breast:
7	chr8:96068988..96071455-chr8:96145408..96146985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000156170	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090057	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10090293	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095935	1.00[EUR][1000 genomes]
rs10096991	1.00[EUR][1000 genomes]
rs10097190	1.00[EUR][1000 genomes]
rs10097223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100838	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10101843	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10107910	1.00[EUR][1000 genomes]
rs10108090	1.00[EUR][1000 genomes]
rs10109093	1.00[EUR][1000 genomes]
rs10110511	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10111383	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10956935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28395411	1.00[EUR][1000 genomes]
rs28411864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28538579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28573244	1.00[EUR][1000 genomes]
rs28620649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28785859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58297413	1.00[EUR][1000 genomes]
rs59279108	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59353178	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60724818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61910718	1.00[EUR][1000 genomes]
rs7000577	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7013875	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276462	1.00[EUR][1000 genomes]
rs73276471	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276474	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276483	1.00[EUR][1000 genomes]
rs73276487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823562	0.90[AFR][1000 genomes]
rs7839513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs877351	1.00[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
3	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:96042800-96072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:96044200-96071800	Strong transcription	Dnd41	blood
6	chr8:96048400-96071800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:96062000-96070400	Weak transcription	Right Ventricle	heart
8	chr8:96062000-96073200	Weak transcription	Psoas Muscle	Psoas
9	chr8:96062000-96078400	Weak transcription	Small Intestine	intestine
10	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
11	chr8:96062200-96072600	Weak transcription	Fetal Heart	heart
12	chr8:96062400-96073000	Weak transcription	Pancreas	Pancrea
13	chr8:96062600-96072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:96062600-96072800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:96062600-96079000	Weak transcription	NHLF	lung
16	chr8:96062600-96079800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:96062800-96073000	Weak transcription	Ovary	ovary
18	chr8:96062800-96074600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:96062800-96079200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:96062800-96079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:96062800-96080200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:96063200-96074200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:96063200-96078800	Weak transcription	HSMM	muscle
24	chr8:96063200-96078800	Weak transcription	NH-A	brain
25	chr8:96063400-96071800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:96063400-96074200	Weak transcription	HMEC	breast
27	chr8:96063600-96072600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:96063800-96070400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:96063800-96074800	Weak transcription	Fetal Kidney	kidney
30	chr8:96063800-96080400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:96063800-96081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:96064000-96070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:96064000-96079800	Weak transcription	Brain Substantia Nigra	brain
34	chr8:96064200-96073000	Weak transcription	Left Ventricle	heart
35	chr8:96064200-96074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:96064400-96078800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:96064600-96070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:96064600-96072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:96064600-96080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:96064800-96070400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:96064800-96070400	Weak transcription	Primary T cells from cord blood	blood
42	chr8:96064800-96073200	Weak transcription	K562	blood
43	chr8:96064800-96079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:96065200-96078600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:96065800-96073400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:96066600-96070800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:96067600-96071600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:96068000-96071600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:96068200-96071600	Strong transcription	Fetal Intestine Small	intestine
50	chr8:96068800-96073400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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