Variant report

Variant	rs72964322
Chromosome Location	chr2:128013357-128013358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10195774	0.85[AFR][1000 genomes]
rs10451530	0.82[AFR][1000 genomes]
rs13424947	0.83[AFR][1000 genomes]
rs4150448	0.81[AFR][1000 genomes]
rs4150487	0.83[AFR][1000 genomes]
rs4150507	0.86[AFR][1000 genomes]
rs4150512	0.86[AFR][1000 genomes]
rs4150515	0.86[AFR][1000 genomes]
rs7584829	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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
4	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127996400-128013400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr2:127996400-128013400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:128000000-128013400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:128000400-128013400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:128002400-128015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:128002800-128014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:128003000-128016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:128003400-128014000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:128003600-128013400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:128004000-128013400	Weak transcription	Thymus	Thymus
11	chr2:128004200-128014000	Weak transcription	Fetal Lung	lung
12	chr2:128004400-128013400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:128004400-128014200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:128004600-128013400	Weak transcription	Placenta	Placenta
15	chr2:128004800-128014000	Weak transcription	Fetal Thymus	thymus
16	chr2:128005000-128014400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:128005000-128016400	Weak transcription	Fetal Kidney	kidney
18	chr2:128005200-128013400	Weak transcription	Spleen	Spleen
19	chr2:128005200-128014000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:128005400-128013400	Weak transcription	Esophagus	oesophagus
21	chr2:128005400-128016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:128006000-128013400	Weak transcription	Fetal Stomach	stomach
23	chr2:128007200-128013400	Weak transcription	Right Ventricle	heart
24	chr2:128007600-128015800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:128007800-128013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:128008400-128013400	Weak transcription	Aorta	Aorta
27	chr2:128010000-128014000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:128010200-128013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:128010600-128014400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:128010800-128014400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:128011400-128013400	Weak transcription	Adipose Nuclei	Adipose
32	chr2:128011400-128014000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:128011400-128014400	Weak transcription	NHLF	lung
34	chr2:128011600-128013400	Weak transcription	Gastric	stomach
35	chr2:128011600-128014000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:128011600-128014000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:128011800-128013400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:128011800-128013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:128011800-128013400	Weak transcription	Left Ventricle	heart
40	chr2:128011800-128013400	Weak transcription	Lung	lung
41	chr2:128011800-128013800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:128011800-128014000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:128011800-128014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:128011800-128015800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:128011800-128017200	Weak transcription	Small Intestine	intestine
46	chr2:128012000-128013600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:128012000-128013800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:128012000-128014400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:128012200-128013400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:128012200-128013600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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