Variant report

Variant	rs994226
Chromosome Location	chr2:190432172-190432173
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190424147..190427932-chr2:190428978..190433809,5	K562	blood:
2	chr2:190305909..190307530-chr2:190431809..190433685,2	MCF-7	breast:
3	chr2:190429867..190433409-chr2:190445353..190447436,5	K562	blood:
4	chr2:190430886..190434055-chr2:190440352..190443388,4	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000138449	Chromatin interaction

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

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

rs_ID	r²[population]
rs16831659	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1966704	0.82[EUR][1000 genomes]
rs2043933	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2119071	1.00[CHB][hapmap]
rs2165180	0.92[EUR][1000 genomes]
rs2352262	1.00[JPT][hapmap]
rs4667287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57422927	0.81[ASN][1000 genomes]
rs6434347	0.92[EUR][1000 genomes]
rs6737717	0.85[CHB][hapmap]
rs7596205	1.00[CEU][hapmap];0.99[EUR][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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:190424600-190432800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:190424600-190433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:190424800-190433600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:190424800-190435600	Weak transcription	Esophagus	oesophagus
6	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:190425000-190433600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:190425000-190433800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:190425000-190435400	Weak transcription	Right Atrium	heart
11	chr2:190425200-190433600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:190425200-190433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:190426800-190432600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:190427000-190433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:190427800-190432600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:190428000-190432600	Strong transcription	K562	blood
18	chr2:190428200-190432400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:190428200-190432600	Strong transcription	Pancreas	Pancrea
20	chr2:190428200-190434600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:190428400-190432600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:190428400-190432600	Strong transcription	A549	lung
23	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
24	chr2:190429000-190432600	Genic enhancers	Ovary	ovary
25	chr2:190429000-190433800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:190429000-190433800	Weak transcription	HSMM	muscle
27	chr2:190429000-190433800	Weak transcription	HUVEC	blood vessel
28	chr2:190429000-190434000	Strong transcription	Fetal Intestine Large	intestine
29	chr2:190429000-190435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:190429000-190438000	Genic enhancers	Liver	Liver
31	chr2:190429000-190438200	Strong transcription	Dnd41	blood
32	chr2:190429000-190439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:190429000-190439600	Weak transcription	Lung	lung
34	chr2:190429000-190441600	Weak transcription	Fetal Brain Female	brain
35	chr2:190429000-190442000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
37	chr2:190429200-190439600	Weak transcription	Colonic Mucosa	Colon
38	chr2:190429400-190439600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:190429800-190441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:190430000-190432600	Genic enhancers	Adipose Nuclei	Adipose
41	chr2:190430200-190435400	Weak transcription	Right Ventricle	heart
42	chr2:190430200-190443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:190430400-190433800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:190430400-190434000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:190430400-190434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:190430400-190434000	Weak transcription	HepG2	liver
47	chr2:190430400-190435200	Weak transcription	HSMMtube	muscle
48	chr2:190430400-190439600	Weak transcription	Gastric	stomach
49	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:190430600-190434000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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