Variant report

Variant	rs2038287
Chromosome Location	chr22:28513986-28513987
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28503418..28506723-chr22:28511705..28514483,3	K562	blood:
2	chr22:28504287..28506723-chr22:28511705..28514349,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10483141	1.00[CHB][hapmap]
rs10483148	1.00[CHB][hapmap]
rs12167128	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12170637	1.00[CHB][hapmap]
rs130414	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs135641	1.00[CHB][hapmap]
rs135642	1.00[CHB][hapmap]
rs135644	1.00[CHB][hapmap]
rs135645	1.00[CHB][hapmap]
rs135649	1.00[CHB][hapmap]
rs135653	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138630	0.83[EUR][1000 genomes]
rs138646	1.00[CHB][hapmap]
rs138680	1.00[CHB][hapmap]
rs1569700	1.00[CHB][hapmap]
rs16986177	1.00[CHB][hapmap]
rs16986254	1.00[CHB][hapmap]
rs16986257	1.00[CHB][hapmap]
rs16986266	1.00[CHB][hapmap]
rs2143420	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2345011	1.00[CHB][hapmap]
rs34734418	0.81[EUR][1000 genomes]
rs470101	1.00[CHB][hapmap]
rs7285440	1.00[CHB][hapmap]
rs7292859	0.82[EUR][1000 genomes]
rs9625378	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
6	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:28508800-28514800	Weak transcription	Fetal Intestine Small	intestine
9	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
11	chr22:28509200-28514400	Weak transcription	Adipose Nuclei	Adipose
12	chr22:28509200-28514800	Weak transcription	Fetal Brain Female	brain
13	chr22:28509400-28516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:28510000-28515200	Weak transcription	Fetal Brain Male	brain
16	chr22:28512000-28516000	Enhancers	Fetal Heart	heart
17	chr22:28512800-28516600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:28513000-28515000	Weak transcription	Psoas Muscle	Psoas
19	chr22:28513000-28516400	Weak transcription	Aorta	Aorta
20	chr22:28513000-28516400	Weak transcription	Fetal Lung	lung
21	chr22:28513000-28519000	Weak transcription	Ovary	ovary
22	chr22:28513200-28514600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:28513200-28514600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:28513200-28514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:28513200-28516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:28513200-28516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:28513200-28516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:28513200-28517800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:28513200-28521400	Weak transcription	Fetal Stomach	stomach
30	chr22:28513200-28527400	Weak transcription	Left Ventricle	heart
31	chr22:28513200-28538000	Weak transcription	Dnd41	blood
32	chr22:28513400-28516400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr22:28513400-28516400	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:28513600-28514000	Enhancers	NHEK	skin
35	chr22:28513600-28514800	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:28513600-28515000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:28513600-28516200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:28513600-28516200	Weak transcription	Osteobl	bone
39	chr22:28513600-28516400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:28513600-28516400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:28513600-28516400	Weak transcription	HSMM	muscle
42	chr22:28513600-28516400	Weak transcription	NH-A	brain
43	chr22:28513600-28516400	Weak transcription	NHDF-Ad	bronchial
44	chr22:28513600-28516600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:28513800-28514200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:28513800-28515000	Weak transcription	HSMMtube	muscle

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