Variant report

Variant	rs73236448
Chromosome Location	chr8:58965111-58965112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58964702..58966209-chr8:58978856..58981572,2	K562	blood:

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	1.00[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	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114432	1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288562	1.00[ASN][1000 genomes]
rs57550641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58595014	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59166085	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139253	1.00[ASN][1000 genomes]
rs61521318	0.96[AFR][1000 genomes];1.00[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	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015049	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236451	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236452	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236458	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236476	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236481	1.00[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	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236490	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73241723	0.83[AMR][1000 genomes];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	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816440	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs884135	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884136	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694113	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694139	0.92[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58949400-58966800	Weak transcription	Liver	Liver
3	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
4	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
5	chr8:58954400-58973200	Weak transcription	Psoas Muscle	Psoas
6	chr8:58955200-58974400	Weak transcription	Fetal Brain Male	brain
7	chr8:58956000-58969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:58958000-58969400	Weak transcription	HSMM	muscle
9	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:58958200-58968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:58961400-58969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:58962000-58968200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:58963400-58969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:58963600-58978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:58963800-58965800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:58963800-58966000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:58963800-58969000	Weak transcription	Fetal Kidney	kidney
18	chr8:58963800-58969200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:58963800-58969400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:58963800-58969400	Weak transcription	Right Ventricle	heart
21	chr8:58963800-58969600	Weak transcription	Fetal Brain Female	brain
22	chr8:58963800-58969600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:58963800-58970400	Weak transcription	Esophagus	oesophagus
24	chr8:58963800-58973200	Weak transcription	NHLF	lung
25	chr8:58963800-58978800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:58964000-58965200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:58964000-58965600	Weak transcription	Left Ventricle	heart
28	chr8:58964000-58965800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:58964000-58969000	Weak transcription	Fetal Heart	heart
30	chr8:58964000-58969400	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:58964000-58969400	Weak transcription	Fetal Stomach	stomach
32	chr8:58964000-58969400	Weak transcription	Lung	lung
33	chr8:58964200-58965200	Weak transcription	Ovary	ovary
34	chr8:58964200-58965200	Enhancers	Osteobl	bone
35	chr8:58964200-58966000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:58964200-58967000	Weak transcription	HepG2	liver
37	chr8:58964200-58969400	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:58964200-58969400	Weak transcription	Right Atrium	heart
39	chr8:58964200-58973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:58964400-58965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:58964600-58968200	Weak transcription	Fetal Lung	lung
42	chr8:58964600-58969200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:58964600-58969600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:58964800-58965400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:58964800-58965400	Weak transcription	GM12878-XiMat	blood
46	chr8:58964800-58973400	Weak transcription	NHDF-Ad	bronchial

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