Variant report

Variant	rs180971258
Chromosome Location	chr3:121489070-121489071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121476465..121478394-chr3:121487558..121489191,2	K562	blood:
2	chr3:121476185..121478583-chr3:121487333..121489088,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121469400-121489200	Weak transcription	Aorta	Aorta
2	chr3:121469400-121489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:121476800-121489200	Weak transcription	Spleen	Spleen
4	chr3:121477200-121494000	Weak transcription	Right Ventricle	heart
5	chr3:121478000-121499400	Weak transcription	HepG2	liver
6	chr3:121479200-121489200	Weak transcription	HSMMtube	muscle
7	chr3:121482600-121489200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:121483200-121490600	Weak transcription	A549	lung
9	chr3:121483400-121489200	Weak transcription	Esophagus	oesophagus
10	chr3:121483600-121489200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:121483600-121498600	Weak transcription	Fetal Kidney	kidney
12	chr3:121483800-121498400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:121484000-121489200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:121484200-121489200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:121484400-121490600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:121484400-121494000	Weak transcription	Brain Angular Gyrus	brain
17	chr3:121484600-121499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:121485200-121489200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:121485200-121491000	Weak transcription	HUVEC	blood vessel
20	chr3:121485400-121493200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:121485600-121489200	Weak transcription	Fetal Lung	lung
22	chr3:121485600-121497200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:121485600-121503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:121485800-121501000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr3:121486000-121489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:121486000-121489200	Weak transcription	Pancreas	Pancrea
27	chr3:121486000-121489200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:121486000-121489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:121486000-121491400	Weak transcription	NHLF	lung
30	chr3:121486200-121491200	Weak transcription	NHEK	skin
31	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
32	chr3:121486400-121489200	Weak transcription	Colonic Mucosa	Colon
33	chr3:121486400-121489200	Weak transcription	Lung	lung
34	chr3:121486800-121496000	Weak transcription	Hela-S3	cervix
35	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:121487000-121494000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:121487000-121498800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:121487000-121509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:121487200-121489200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:121487200-121501600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:121487400-121489200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:121487400-121489200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:121487400-121489200	Weak transcription	Brain Anterior Caudate	brain
44	chr3:121487400-121489200	Weak transcription	Small Intestine	intestine
45	chr3:121487400-121489800	Strong transcription	Ovary	ovary
46	chr3:121487400-121489800	Strong transcription	GM12878-XiMat	blood
47	chr3:121487400-121490000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:121487400-121491600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:121487400-121491600	Strong transcription	NHDF-Ad	bronchial
50	chr3:121487400-121492000	Strong transcription	Adipose Nuclei	Adipose

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