Variant report

Variant	rs9482879
Chromosome Location	chr6:128657901-128657902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57342961	1.00[AMR][1000 genomes]
rs60116911	1.00[AMR][1000 genomes]
rs73589543	1.00[AMR][1000 genomes]
rs73589550	1.00[AMR][1000 genomes]
rs73589565	1.00[AMR][1000 genomes]
rs73589573	1.00[AMR][1000 genomes]
rs73589581	1.00[AMR][1000 genomes]
rs73589587	1.00[AMR][1000 genomes]
rs73589590	1.00[AMR][1000 genomes]
rs73591310	1.00[AMR][1000 genomes]
rs73591311	1.00[AMR][1000 genomes]
rs73596687	1.00[AMR][1000 genomes]
rs7764930	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr6:128632000-128658000	Weak transcription	Ovary	ovary
2	chr6:128632200-128665200	Weak transcription	Gastric	stomach
3	chr6:128635600-128672000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:128639000-128660600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:128639000-128660800	Weak transcription	Small Intestine	intestine
6	chr6:128639800-128659000	Weak transcription	Fetal Stomach	stomach
7	chr6:128640000-128660600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:128641400-128661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:128643400-128659000	Weak transcription	NHEK	skin
10	chr6:128643400-128660600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:128649200-128661400	Weak transcription	Pancreas	Pancrea
12	chr6:128649200-128665600	Weak transcription	Left Ventricle	heart
13	chr6:128649400-128658600	Weak transcription	Fetal Lung	lung
14	chr6:128649400-128659800	Weak transcription	Fetal Intestine Small	intestine
15	chr6:128649400-128660800	Weak transcription	HSMMtube	muscle
16	chr6:128649400-128671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:128649400-128678600	Weak transcription	HSMM	muscle
18	chr6:128649600-128661600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:128651000-128660400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:128654400-128658600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:128654400-128659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:128654400-128660400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:128655000-128658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:128655200-128658800	Weak transcription	Fetal Heart	heart
25	chr6:128655200-128659800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:128656200-128659200	Enhancers	Brain Hippocampus Middle	brain
27	chr6:128656200-128660600	Enhancers	Liver	Liver
28	chr6:128656400-128659600	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:128656400-128660000	Enhancers	Brain Substantia Nigra	brain
30	chr6:128656400-128661400	Enhancers	Colon Smooth Muscle	Colon
31	chr6:128657000-128660800	Enhancers	HepG2	liver
32	chr6:128657200-128658000	Enhancers	NHDF-Ad	bronchial
33	chr6:128657400-128658000	Enhancers	Stomach Mucosa	stomach
34	chr6:128657400-128658600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:128657600-128658200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:128657600-128658200	Enhancers	Osteobl	bone
37	chr6:128657600-128658800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:128657600-128658800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:128657600-128661200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:128657800-128658400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:128657800-128658400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:128657800-128658400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:128657800-128660600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:128657800-128667800	Weak transcription	Fetal Kidney	kidney

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