Variant report

Variant	rs11884632
Chromosome Location	chr2:190424842-190424843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190424147..190427932-chr2:190428978..190433809,5	K562	blood:
2	chr2:190401323..190403546-chr2:190423221..190425184,2	MCF-7	breast:
3	chr2:190411762..190417364-chr2:190417405..190425188,8	MCF-7	breast:
4	chr2:190306166..190308216-chr2:190424556..190426527,2	K562	blood:
5	chr2:190405534..190408466-chr2:190424472..190427458,3	MCF-7	breast:
6	chr2:190416454..190421330-chr2:190422959..190427410,6	K562	blood:
7	chr2:190424104..190426651-chr2:190435111..190437728,3	MCF-7	breast:
8	chr2:190420585..190423049-chr2:190423275..190425230,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11685197	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11689103	0.88[EUR][1000 genomes]
rs11690401	0.88[EUR][1000 genomes]
rs13404407	1.00[JPT][hapmap]
rs1439812	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34206448	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434349	1.00[JPT][hapmap]
rs7604627	1.00[JPT][hapmap]
rs994227	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs996425	0.86[ASN][1000 genomes]
rs996426	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190415200-190426400	Weak transcription	HSMMtube	muscle
2	chr2:190415400-190428400	Weak transcription	HSMM	muscle
3	chr2:190416200-190425200	Enhancers	HepG2	liver
4	chr2:190417000-190431000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:190417200-190425000	Enhancers	Liver	Liver
6	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:190417800-190426200	Weak transcription	K562	blood
8	chr2:190418600-190425800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:190419000-190425800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:190419800-190427800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:190419800-190428400	Weak transcription	Lung	lung
12	chr2:190420200-190425600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:190420800-190428200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:190420800-190428400	Weak transcription	Fetal Thymus	thymus
15	chr2:190421000-190428600	Weak transcription	Fetal Brain Female	brain
16	chr2:190421000-190431000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:190421000-190431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:190422400-190425400	Enhancers	Fetal Kidney	kidney
19	chr2:190422400-190426600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:190422400-190428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:190422800-190425000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:190422800-190425000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:190422800-190425800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:190422800-190428600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:190423200-190425000	Enhancers	Fetal Muscle Leg	muscle
26	chr2:190423200-190425000	Enhancers	Fetal Stomach	stomach
27	chr2:190423200-190425000	Enhancers	Ovary	ovary
28	chr2:190423200-190425800	Weak transcription	Fetal Brain Male	brain
29	chr2:190423600-190425000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:190423600-190425000	Enhancers	Right Atrium	heart
31	chr2:190423800-190425000	Enhancers	HUVEC	blood vessel
32	chr2:190423800-190425200	Enhancers	NHLF	lung
33	chr2:190423800-190427800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:190424000-190425200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:190424200-190425000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:190424200-190425000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:190424200-190425000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:190424200-190425000	Genic enhancers	Aorta	Aorta
39	chr2:190424200-190425000	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:190424200-190425000	Enhancers	Colonic Mucosa	Colon
41	chr2:190424200-190425000	Enhancers	Fetal Heart	heart
42	chr2:190424200-190425000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:190424200-190425000	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:190424200-190425000	Enhancers	A549	lung
45	chr2:190424200-190425000	Enhancers	NHDF-Ad	bronchial
46	chr2:190424200-190426200	Strong transcription	Dnd41	blood
47	chr2:190424200-190426800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:190424200-190429600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:190424400-190425000	Genic enhancers	Primary T cells from cord blood	blood
50	chr2:190424400-190425000	Enhancers	Brain Hippocampus Middle	brain

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