Variant report

Variant	rs2119071
Chromosome Location	chr2:190425182-190425183
allele	C/T
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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4667287	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs57422927	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737717	0.85[CHB][hapmap]
rs994226	1.00[CHB][hapmap]

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	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:190417800-190426200	Weak transcription	K562	blood
7	chr2:190418600-190425800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:190419000-190425800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:190419800-190427800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:190419800-190428400	Weak transcription	Lung	lung
11	chr2:190420200-190425600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:190420800-190428200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:190420800-190428400	Weak transcription	Fetal Thymus	thymus
14	chr2:190421000-190428600	Weak transcription	Fetal Brain Female	brain
15	chr2:190421000-190431000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:190421000-190431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:190422400-190425400	Enhancers	Fetal Kidney	kidney
18	chr2:190422400-190426600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:190422400-190428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:190422800-190425800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:190422800-190428600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:190423200-190425800	Weak transcription	Fetal Brain Male	brain
23	chr2:190423800-190425200	Enhancers	NHLF	lung
24	chr2:190423800-190427800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:190424000-190425200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:190424200-190426200	Strong transcription	Dnd41	blood
27	chr2:190424200-190426800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:190424200-190429600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:190424400-190425200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:190424400-190426600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:190424600-190425600	Enhancers	Adipose Nuclei	Adipose
32	chr2:190424600-190427000	Genic enhancers	Fetal Intestine Large	intestine
33	chr2:190424600-190428200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:190424600-190428200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:190424600-190428600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:190424600-190432800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:190424600-190433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:190424800-190425400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:190424800-190425600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:190424800-190425800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:190424800-190425800	Weak transcription	Small Intestine	intestine
42	chr2:190424800-190426200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:190424800-190426400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:190424800-190427000	Enhancers	Fetal Intestine Small	intestine
45	chr2:190424800-190427800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:190424800-190427800	Strong transcription	Placenta	Placenta
47	chr2:190424800-190427800	Weak transcription	Left Ventricle	heart
48	chr2:190424800-190427800	Weak transcription	Pancreas	Pancrea
49	chr2:190424800-190428200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:190424800-190428200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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