Variant report

Variant	rs5762422
Chromosome Location	chr22:28357674-28357675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11912165	1.00[JPT][hapmap]
rs12053760	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16986969	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2142561	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2235574	0.90[AFR][1000 genomes]
rs2294820	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2294969	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5752658	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752663	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752672	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752687	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5762408	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5762419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762424	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762446	1.00[CEU][hapmap]
rs5762449	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5762474	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5762478	1.00[CEU][hapmap]
rs5762492	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5762498	1.00[JPT][hapmap]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
2	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
5	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:28319600-28358000	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:28321200-28358400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
10	chr22:28322000-28365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:28322000-28366200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:28326800-28368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
14	chr22:28339400-28367800	Weak transcription	Fetal Intestine Small	intestine
15	chr22:28348400-28357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:28348800-28358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:28348800-28358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:28349200-28358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28349400-28358000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:28351000-28362200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
22	chr22:28354600-28357800	Weak transcription	Fetal Kidney	kidney
23	chr22:28354800-28358400	Weak transcription	Brain Substantia Nigra	brain
24	chr22:28354800-28360600	Enhancers	Liver	Liver
25	chr22:28355400-28358400	Weak transcription	Small Intestine	intestine
26	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
27	chr22:28355600-28366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:28355600-28378000	Weak transcription	Gastric	stomach
29	chr22:28355800-28358200	Weak transcription	Brain Anterior Caudate	brain
30	chr22:28355800-28358400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:28355800-28358400	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:28355800-28358400	Weak transcription	Right Atrium	heart
33	chr22:28355800-28363600	Weak transcription	Lung	lung
34	chr22:28355800-28368600	Weak transcription	Pancreas	Pancrea
35	chr22:28355800-28371800	Weak transcription	Right Ventricle	heart
36	chr22:28355800-28378000	Weak transcription	Aorta	Aorta
37	chr22:28355800-28378000	Weak transcription	Left Ventricle	heart
38	chr22:28356000-28358400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:28356000-28358400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:28356000-28358400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:28356000-28358400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:28356200-28358200	Weak transcription	Fetal Heart	heart
43	chr22:28356400-28361800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr22:28356600-28358400	Weak transcription	HUVEC	blood vessel
45	chr22:28356600-28361600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:28356600-28361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr22:28356600-28365600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:28356600-28378000	Weak transcription	Psoas Muscle	Psoas
49	chr22:28356800-28361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr22:28357000-28358400	Weak transcription	Fetal Muscle Leg	muscle

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