Variant report

Variant	rs539290212
Chromosome Location	chr2:127417592-127417593
allele	C/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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127415000-127417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:127415000-127417800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:127415200-127417800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:127415200-127428000	Weak transcription	Gastric	stomach
6	chr2:127415400-127417600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:127415400-127417600	Enhancers	Lung	lung
8	chr2:127415400-127417800	Enhancers	Pancreas	Pancrea
9	chr2:127415400-127418400	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:127415400-127419600	Enhancers	Esophagus	oesophagus
11	chr2:127415600-127417600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:127415600-127417800	Transcr. at gene 5' and 3'	K562	blood
13	chr2:127415600-127418800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr2:127415600-127421000	Enhancers	Left Ventricle	heart
15	chr2:127415600-127422800	Enhancers	Right Atrium	heart
16	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
18	chr2:127416000-127417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:127416000-127417600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:127416000-127417800	Enhancers	HSMM	muscle
21	chr2:127416000-127421400	Weak transcription	Liver	Liver
22	chr2:127416000-127422600	Genic enhancers	Fetal Muscle Leg	muscle
23	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:127416200-127417600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:127416200-127417800	Enhancers	Colonic Mucosa	Colon
26	chr2:127416200-127417800	Enhancers	Fetal Lung	lung
27	chr2:127416200-127417800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:127416200-127418600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:127416200-127418600	Enhancers	Colon Smooth Muscle	Colon
30	chr2:127416200-127419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
33	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
34	chr2:127416400-127417600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr2:127416400-127417600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:127416600-127417600	Weak transcription	HSMMtube	muscle
37	chr2:127416600-127417800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:127416600-127420400	Enhancers	Ovary	ovary
39	chr2:127416600-127425000	Enhancers	Fetal Heart	heart
40	chr2:127416800-127417600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:127416800-127421800	Enhancers	Primary B cells from cord blood	blood
42	chr2:127416800-127425400	Weak transcription	Small Intestine	intestine
43	chr2:127417000-127417600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:127417000-127417600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:127417000-127418000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:127417000-127418000	Strong transcription	Fetal Stomach	stomach
47	chr2:127417000-127418000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:127417000-127419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:127417000-127419600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:127417000-127419600	Enhancers	Fetal Thymus	thymus

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