Variant report

Variant	rs12335322
Chromosome Location	chr8:96004065-96004066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95959737..95963607-chr8:96003681..96007854,5	MCF-7	breast:
2	chr8:96003819..96005912-chr8:96011245..96014094,2	K562	blood:
3	chr8:95986378..95988844-chr8:96003281..96005168,2	MCF-7	breast:
4	chr8:95905943..95909813-chr8:96003263..96006673,5	MCF-7	breast:
5	chr8:96002471..96005226-chr8:96038808..96041557,2	MCF-7	breast:
6	chr8:95959850..95964856-chr8:96001883..96005786,9	MCF-7	breast:
7	chr8:96003596..96006283-chr8:96009467..96011919,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000253528	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10093849	0.87[AFR][1000 genomes]
rs13439011	0.87[AFR][1000 genomes]
rs28370425	0.87[AFR][1000 genomes]
rs28514338	0.87[AFR][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	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:95987000-96019600	Weak transcription	Lung	lung
4	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:95988000-96004800	Weak transcription	HMEC	breast
6	chr8:95993800-96009200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
8	chr8:95997600-96004200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:95997600-96009000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:95997600-96009200	Weak transcription	Thymus	Thymus
11	chr8:96000000-96008800	Weak transcription	Spleen	Spleen
12	chr8:96000400-96005000	Weak transcription	Right Atrium	heart
13	chr8:96000400-96009200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:96000600-96009200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:96000800-96005800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:96000800-96009000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:96001000-96009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:96001000-96012000	Weak transcription	Primary B cells from cord blood	blood
19	chr8:96001200-96009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:96001200-96013600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:96001200-96023400	Weak transcription	Liver	Liver
22	chr8:96002000-96005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:96002000-96009400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:96002200-96004800	Enhancers	HUVEC	blood vessel
25	chr8:96002400-96004600	Enhancers	HepG2	liver
26	chr8:96002600-96004200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr8:96002600-96004400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:96002800-96004400	Enhancers	Fetal Heart	heart
29	chr8:96003000-96004200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:96003200-96006400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:96003200-96032600	Weak transcription	Gastric	stomach
32	chr8:96003400-96004200	Weak transcription	Fetal Stomach	stomach
33	chr8:96003400-96005400	Enhancers	A549	lung
34	chr8:96003400-96009600	Weak transcription	Fetal Lung	lung
35	chr8:96003600-96005800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:96003600-96008800	Weak transcription	Fetal Thymus	thymus
37	chr8:96003800-96005000	Weak transcription	K562	blood
38	chr8:96003800-96009000	Weak transcription	Pancreas	Pancrea
39	chr8:96003800-96009200	Weak transcription	Adipose Nuclei	Adipose
40	chr8:96004000-96004400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:96004000-96004400	Weak transcription	Left Ventricle	heart
42	chr8:96004000-96004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:96004000-96007400	Weak transcription	Dnd41	blood
44	chr8:96004000-96009200	Weak transcription	Stomach Smooth Muscle	stomach

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