Variant report

Variant	rs10190632
Chromosome Location	chr2:86017386-86017387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
2	chr2:86007953..86010891-chr2:86015873..86017457,2	MCF-7	breast:
3	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:
4	chr2:85997689..85999503-chr2:86015915..86018374,2	MCF-7	breast:
5	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
6	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10192235	0.96[ASN][1000 genomes]
rs1048084	0.88[CEU][hapmap]
rs13386681	0.85[CHB][hapmap]
rs13392366	0.89[ASN][1000 genomes]
rs13402783	0.85[CHB][hapmap]
rs13428557	0.85[CHB][hapmap]
rs1914821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001593	0.89[ASN][1000 genomes]
rs2139198	0.85[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs2366818	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs734042	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs869778	0.85[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs934775	0.86[CHB][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
5	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
6	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
8	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:86013200-86017400	Weak transcription	Brain Germinal Matrix	brain
10	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:86013400-86017400	Weak transcription	NH-A	brain
12	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
13	chr2:86013600-86017400	Strong transcription	Adipose Nuclei	Adipose
14	chr2:86013600-86017800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
16	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
18	chr2:86014000-86017800	Strong transcription	Fetal Lung	lung
19	chr2:86014000-86019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:86014200-86017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:86014400-86018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:86015200-86020000	Weak transcription	Liver	Liver
26	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
27	chr2:86015400-86017400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:86015400-86018800	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
30	chr2:86015600-86017400	Weak transcription	Ovary	ovary
31	chr2:86015600-86020400	Genic enhancers	HSMM	muscle
32	chr2:86016000-86019600	Weak transcription	Gastric	stomach
33	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:86016200-86017400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:86016200-86018000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:86016200-86018800	Weak transcription	Left Ventricle	heart
37	chr2:86016200-86019000	Weak transcription	Pancreas	Pancrea
38	chr2:86016200-86019200	Strong transcription	Fetal Stomach	stomach
39	chr2:86016200-86022600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:86016400-86017400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:86016400-86017400	Weak transcription	Brain Substantia Nigra	brain
42	chr2:86016400-86017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:86016400-86017600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:86016400-86017800	Weak transcription	Right Atrium	heart
45	chr2:86016400-86017800	Weak transcription	Right Ventricle	heart
46	chr2:86016600-86017400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:86016600-86018200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:86016600-86019000	Weak transcription	Osteobl	bone
49	chr2:86016800-86017600	Weak transcription	Spleen	Spleen
50	chr2:86016800-86018400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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