Variant report

Variant	rs5762492
Chromosome Location	chr22:28537115-28537116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28536612..28538610-chr22:28539278..28541623,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1072967	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11912165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2064360	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28720063	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56695231	0.82[ASN][1000 genomes]
rs5752679	1.00[CHB][hapmap];0.86[LWK][hapmap]
rs5752687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs5752690	0.82[ASN][1000 genomes]
rs5752693	0.88[EUR][1000 genomes]
rs5752710	0.81[LWK][hapmap]
rs5762446	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5762449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs5762474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762495	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762504	0.87[ASN][1000 genomes]
rs5762506	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs5762540	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9608667	0.87[LWK][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28513200-28538000	Weak transcription	Dnd41	blood
2	chr22:28533000-28537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
5	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
6	chr22:28534400-28537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
8	chr22:28534600-28537400	Enhancers	Fetal Muscle Leg	muscle
9	chr22:28534600-28537800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:28534600-28538000	Enhancers	NHLF	lung
11	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
12	chr22:28535000-28537400	Enhancers	NHDF-Ad	bronchial
13	chr22:28535000-28538000	Enhancers	HSMMtube	muscle
14	chr22:28535000-28538200	Enhancers	Adipose Nuclei	Adipose
15	chr22:28535200-28537400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:28535200-28537600	Enhancers	Osteobl	bone
17	chr22:28535400-28537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:28535400-28537600	Weak transcription	Brain Angular Gyrus	brain
19	chr22:28535400-28537800	Enhancers	NH-A	brain
20	chr22:28535400-28539400	Enhancers	HMEC	breast
21	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
22	chr22:28535600-28537800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:28535600-28538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:28535600-28538000	Enhancers	HSMM	muscle
25	chr22:28535600-28539200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:28535600-28540400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:28535800-28537200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:28535800-28537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:28535800-28537400	Enhancers	Right Ventricle	heart
30	chr22:28535800-28537600	Enhancers	Ovary	ovary
31	chr22:28535800-28537800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:28535800-28539000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:28535800-28539000	Enhancers	NHEK	skin
34	chr22:28535800-28540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:28535800-28540400	Enhancers	Fetal Heart	heart
36	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
37	chr22:28536000-28537200	Enhancers	Stomach Smooth Muscle	stomach
38	chr22:28536000-28537600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:28536200-28538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr22:28536200-28538200	Weak transcription	Brain Anterior Caudate	brain
43	chr22:28536200-28538400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
46	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr22:28536400-28537400	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:28536400-28538000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:28536400-28538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:28536400-28539000	Weak transcription	Right Atrium	heart

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