Variant report

Variant	rs562381244
Chromosome Location	chr2:127417343-127417344
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv583012	chr2:127414661-127420228	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv875005	chr2:127414661-127423066	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv583013	chr2:127417052-127421391	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127414000-127417400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:127414200-127417400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr2:127415000-127417400	Enhancers	Spleen	Spleen
4	chr2:127415000-127417400	Enhancers	HUVEC	blood vessel
5	chr2:127415000-127417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:127415000-127417800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:127415200-127417800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:127415200-127428000	Weak transcription	Gastric	stomach
10	chr2:127415400-127417600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:127415400-127417600	Enhancers	Lung	lung
12	chr2:127415400-127417800	Enhancers	Pancreas	Pancrea
13	chr2:127415400-127418400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:127415400-127419600	Enhancers	Esophagus	oesophagus
15	chr2:127415600-127417400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr2:127415600-127417600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:127415600-127417800	Transcr. at gene 5' and 3'	K562	blood
18	chr2:127415600-127418800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr2:127415600-127421000	Enhancers	Left Ventricle	heart
20	chr2:127415600-127422800	Enhancers	Right Atrium	heart
21	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
23	chr2:127416000-127417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:127416000-127417600	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:127416000-127417800	Enhancers	HSMM	muscle
26	chr2:127416000-127421400	Weak transcription	Liver	Liver
27	chr2:127416000-127422600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:127416200-127417400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:127416200-127417600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:127416200-127417800	Enhancers	Colonic Mucosa	Colon
32	chr2:127416200-127417800	Enhancers	Fetal Lung	lung
33	chr2:127416200-127417800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:127416200-127418600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:127416200-127418600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:127416200-127419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
38	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
39	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
40	chr2:127416400-127417400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr2:127416400-127417600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:127416400-127417600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:127416600-127417400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr2:127416600-127417600	Weak transcription	HSMMtube	muscle
45	chr2:127416600-127417800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:127416600-127420400	Enhancers	Ovary	ovary
47	chr2:127416600-127425000	Enhancers	Fetal Heart	heart
48	chr2:127416800-127417400	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr2:127416800-127417600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:127416800-127421800	Enhancers	Primary B cells from cord blood	blood

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