Variant report

Variant	rs8140748
Chromosome Location	chr22:29506121-29506122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11912894	1.00[CEU][hapmap]
rs11913805	1.00[CEU][hapmap]
rs16987065	1.00[CEU][hapmap]
rs16987067	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4429563	1.00[EUR][1000 genomes]
rs4508707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5762930	1.00[CEU][hapmap]
rs5762931	1.00[CEU][hapmap]
rs6519774	1.00[EUR][1000 genomes]
rs6519779	1.00[CEU][hapmap]
rs722590	1.00[CEU][hapmap]
rs725281	1.00[CEU][hapmap]
rs7288068	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397027	1.00[EUR][1000 genomes]
rs73397030	1.00[EUR][1000 genomes]
rs73397032	1.00[EUR][1000 genomes]
rs73399041	1.00[EUR][1000 genomes]
rs73399052	1.00[EUR][1000 genomes]
rs73399059	1.00[EUR][1000 genomes]
rs8138320	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138963	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139248	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140511	1.00[CEU][hapmap]
rs8141696	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8141812	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8142644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620871	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9620872	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs974370	1.00[CEU][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
3	chr22:29488400-29521200	Weak transcription	Lung	lung
4	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
7	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
8	chr22:29491600-29522200	Weak transcription	Liver	Liver
9	chr22:29493200-29511600	Weak transcription	Gastric	stomach
10	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
12	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
15	chr22:29495000-29509200	Weak transcription	Fetal Brain Female	brain
16	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
17	chr22:29498800-29509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:29499400-29508000	Weak transcription	Brain Angular Gyrus	brain
19	chr22:29499400-29508000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:29499400-29508000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:29499600-29506400	Weak transcription	Brain Anterior Caudate	brain
22	chr22:29499600-29507800	Weak transcription	Brain Substantia Nigra	brain
23	chr22:29499800-29507800	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:29499800-29509600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr22:29503200-29506600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29503400-29507400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:29503600-29506600	Enhancers	Placenta	Placenta
28	chr22:29503800-29506400	Enhancers	NHDF-Ad	bronchial
29	chr22:29503800-29506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:29504000-29506400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:29504200-29506400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:29504200-29507000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:29504200-29507000	Enhancers	K562	blood
34	chr22:29504400-29506400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:29504400-29506400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr22:29504800-29521800	Weak transcription	NHEK	skin
37	chr22:29505000-29514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:29505000-29521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:29505200-29506400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:29505400-29506400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:29505400-29506400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:29505400-29506400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr22:29505400-29506400	Enhancers	Right Ventricle	heart
44	chr22:29505400-29506400	Enhancers	HepG2	liver
45	chr22:29505400-29506600	Enhancers	Fetal Intestine Small	intestine
46	chr22:29505400-29506800	Enhancers	Fetal Intestine Large	intestine
47	chr22:29505400-29507000	Enhancers	Fetal Kidney	kidney
48	chr22:29505600-29506200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:29505600-29506200	Enhancers	Spleen	Spleen
50	chr22:29505600-29506400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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