Variant report

Variant	rs28539097
Chromosome Location	chr4:75133417-75133418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75131662..75133777-chr4:75138644..75141998,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10009707	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10010575	0.84[EUR][1000 genomes]
rs10013212	0.92[EUR][1000 genomes]
rs10017409	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10017417	0.84[EUR][1000 genomes]
rs10018373	0.84[EUR][1000 genomes]
rs10019396	0.92[EUR][1000 genomes]
rs10023519	0.88[EUR][1000 genomes]
rs10026687	0.88[EUR][1000 genomes]
rs10028285	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1037824	0.95[EUR][1000 genomes]
rs10433673	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10938112	0.92[EUR][1000 genomes]
rs11724468	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11737662	0.85[EUR][1000 genomes]
rs1246575	0.83[EUR][1000 genomes]
rs1246577	0.84[EUR][1000 genomes]
rs1246578	0.82[EUR][1000 genomes]
rs1246579	0.82[EUR][1000 genomes]
rs1246580	0.81[EUR][1000 genomes]
rs1246582	0.84[EUR][1000 genomes]
rs1246584	0.84[EUR][1000 genomes]
rs1246586	0.84[EUR][1000 genomes]
rs1246587	0.84[EUR][1000 genomes]
rs1246588	0.84[EUR][1000 genomes]
rs1246590	0.82[EUR][1000 genomes]
rs1246591	0.84[EUR][1000 genomes]
rs1246597	0.81[EUR][1000 genomes]
rs12500697	0.82[EUR][1000 genomes]
rs1265327	0.84[EUR][1000 genomes]
rs13116896	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13142241	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371796	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1380561	0.87[EUR][1000 genomes]
rs1460016	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1460017	0.81[EUR][1000 genomes]
rs16850862	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16850883	0.95[EUR][1000 genomes]
rs17232394	0.88[EUR][1000 genomes]
rs1964526	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2045616	0.95[EUR][1000 genomes]
rs2045617	0.95[EUR][1000 genomes]
rs2045618	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2061508	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2367555	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2367745	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28378517	0.89[EUR][1000 genomes]
rs28436705	0.91[EUR][1000 genomes]
rs28644493	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28695994	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4371587	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4502653	0.88[EUR][1000 genomes]
rs4577545	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694184	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs488440	0.83[EUR][1000 genomes]
rs58813617	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62312513	0.84[EUR][1000 genomes]
rs62312515	0.87[EUR][1000 genomes]
rs62312545	0.87[EUR][1000 genomes]
rs6446983	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6446985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6814880	0.95[EUR][1000 genomes]
rs6819605	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820992	0.95[EUR][1000 genomes]
rs6821664	0.89[EUR][1000 genomes]
rs6835734	0.94[EUR][1000 genomes]
rs6854203	0.86[EUR][1000 genomes]
rs6854723	0.87[EUR][1000 genomes]
rs715844	0.83[EUR][1000 genomes]
rs7659389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663269	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7665105	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7670535	0.89[EUR][1000 genomes]
rs7672588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7681912	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7683181	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9992393	0.87[EUR][1000 genomes]
rs9997322	0.87[EUR][1000 genomes]
rs9997788	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75119800-75148800	Weak transcription	Aorta	Aorta
2	chr4:75120000-75141200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:75124200-75133600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:75125200-75142600	Weak transcription	K562	blood
5	chr4:75125200-75158800	Weak transcription	Left Ventricle	heart
6	chr4:75130000-75133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:75130000-75140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:75131400-75134800	Weak transcription	Psoas Muscle	Psoas
9	chr4:75131800-75134600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:75132000-75135000	Enhancers	HMEC	breast
11	chr4:75132200-75157800	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:75133000-75134800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:75133200-75133600	Enhancers	NHEK	skin
14	chr4:75133200-75133800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:75133200-75134200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:75133200-75134600	Enhancers	Hela-S3	cervix
17	chr4:75133200-75134800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:75133400-75133600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:75133400-75133800	Enhancers	Esophagus	oesophagus
20	chr4:75133400-75134200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:75133400-75134600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:75133400-75134600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:75133400-75134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:75133400-75134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:75133400-75134800	Enhancers	Osteobl	bone
26	chr4:75133400-75135000	Enhancers	NH-A	brain

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