Variant report

Variant	rs73236451
Chromosome Location	chr8:58970563-58970564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10110195	1.00[ASN][1000 genomes]
rs10957030	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774174	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781102	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781204	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998721	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114432	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923114	1.00[ASN][1000 genomes]
rs28508605	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288562	1.00[ASN][1000 genomes]
rs57550641	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58595014	1.00[ASN][1000 genomes]
rs59166085	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139253	1.00[ASN][1000 genomes]
rs61521318	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	0.90[EUR][1000 genomes]
rs6989882	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007800	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015049	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236447	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236448	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236455	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236458	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236461	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236476	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236481	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236484	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236488	1.00[ASN][1000 genomes]
rs73236490	1.00[ASN][1000 genomes]
rs73241723	1.00[ASN][1000 genomes]
rs73682130	1.00[ASN][1000 genomes]
rs73682133	1.00[ASN][1000 genomes]
rs73682134	1.00[ASN][1000 genomes]
rs73682136	1.00[ASN][1000 genomes]
rs73682137	1.00[ASN][1000 genomes]
rs73682138	1.00[ASN][1000 genomes]
rs73682140	1.00[ASN][1000 genomes]
rs73682141	1.00[ASN][1000 genomes]
rs73682142	1.00[ASN][1000 genomes]
rs7812600	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816440	1.00[ASN][1000 genomes]
rs884135	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884136	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694113	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694139	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
4	chr8:58954400-58973200	Weak transcription	Psoas Muscle	Psoas
5	chr8:58955200-58974400	Weak transcription	Fetal Brain Male	brain
6	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:58963600-58978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:58963800-58973200	Weak transcription	NHLF	lung
9	chr8:58963800-58978800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:58964200-58973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:58964800-58973400	Weak transcription	NHDF-Ad	bronchial
12	chr8:58965200-58973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:58965400-58974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:58966600-58980000	Weak transcription	Ovary	ovary
15	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:58969000-58971000	Enhancers	Fetal Kidney	kidney
17	chr8:58969000-58971200	Enhancers	Fetal Heart	heart
18	chr8:58969200-58970600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:58969400-58970600	Enhancers	Colon Smooth Muscle	Colon
20	chr8:58969400-58970600	Enhancers	Fetal Lung	lung
21	chr8:58969400-58970600	Enhancers	Fetal Muscle Leg	muscle
22	chr8:58969400-58970600	Genic enhancers	Fetal Stomach	stomach
23	chr8:58969400-58970600	Enhancers	Left Ventricle	heart
24	chr8:58969600-58970600	Enhancers	Liver	Liver
25	chr8:58969600-58970600	Enhancers	Pancreas	Pancrea
26	chr8:58969800-58970600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:58969800-58973800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:58969800-58979800	Weak transcription	HSMM	muscle
29	chr8:58970000-58971000	Enhancers	HepG2	liver
30	chr8:58970000-58971200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr8:58970000-58973200	Weak transcription	Fetal Brain Female	brain
32	chr8:58970000-58978600	Weak transcription	Lung	lung
33	chr8:58970000-58978600	Weak transcription	Right Atrium	heart
34	chr8:58970000-58979000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:58970200-58970600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:58970200-58970600	Enhancers	Hela-S3	cervix
37	chr8:58970200-58970600	Enhancers	NH-A	brain
38	chr8:58970200-58970800	Enhancers	Stomach Mucosa	stomach
39	chr8:58970200-58972600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:58970200-58975400	Weak transcription	Right Ventricle	heart
41	chr8:58970400-58970600	Enhancers	Esophagus	oesophagus
42	chr8:58970400-58972800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:58970400-58973400	Weak transcription	Brain Germinal Matrix	brain
44	chr8:58970400-58978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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