Variant report

Variant	rs425721
Chromosome Location	chr8:90763743-90763744
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	chr8:90740621..90743258-chr8:90763138..90765800,2	K562	blood:
2	chr8:90757887..90760826-chr8:90762391..90763974,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11776336	0.82[AMR][1000 genomes]
rs12156013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs218938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39501	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39502	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39508	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39511	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39512	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs397540	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39762	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39763	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39766	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs398701	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40248	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40378	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40379	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40380	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40454	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40635	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs406680	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs411310	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42343	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42479	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42480	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs426779	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs428484	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43133	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs434264	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs450332	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815039	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:90749600-90768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:90749800-90767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:90749800-90768000	Weak transcription	Left Ventricle	heart
7	chr8:90749800-90768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:90750000-90769000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:90755000-90767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:90755200-90766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:90755400-90766400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:90755600-90766600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:90756400-90764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:90756400-90769200	Weak transcription	Pancreas	Pancrea
15	chr8:90758400-90769000	Weak transcription	Ovary	ovary
16	chr8:90759400-90766800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:90760000-90768200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:90760200-90766400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:90760200-90768000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:90760400-90766200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:90760400-90767800	Weak transcription	Fetal Lung	lung
22	chr8:90760600-90768800	Weak transcription	Fetal Kidney	kidney
23	chr8:90760600-90769000	Weak transcription	HSMM	muscle
24	chr8:90761800-90766600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:90762000-90767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:90762000-90767400	Weak transcription	Fetal Heart	heart
27	chr8:90762200-90766800	Weak transcription	HUVEC	blood vessel
28	chr8:90762400-90763800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:90762600-90767400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:90762600-90768200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:90762600-90768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:90762600-90768800	Weak transcription	Aorta	Aorta
33	chr8:90762600-90769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:90762800-90766400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:90763000-90768000	Weak transcription	Liver	Liver
36	chr8:90763400-90764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:90763600-90766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:90763600-90768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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