Variant report

Variant	rs73738528
Chromosome Location	chr6:45593089-45593090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45573666..45576304-chr6:45593015..45594569,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10080253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12661055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661124	0.85[ASN][1000 genomes]
rs12663210	0.85[ASN][1000 genomes]
rs12665637	0.85[ASN][1000 genomes]
rs1491141	0.90[AFR][1000 genomes]
rs16873553	0.85[AFR][1000 genomes]
rs2020084	0.85[ASN][1000 genomes]
rs56083876	0.80[ASN][1000 genomes]
rs57939401	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58129892	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58939587	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60884282	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6458453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6458455	0.85[ASN][1000 genomes]
rs6902401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914126	0.84[AFR][1000 genomes]
rs6915953	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6916895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927048	0.85[AFR][1000 genomes]
rs6930188	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6934210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6936365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6940187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73738525	0.83[AFR][1000 genomes]
rs73738526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73738527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752183	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7763886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7765045	0.83[AFR][1000 genomes]
rs7766534	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7768962	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9296463	0.84[ASN][1000 genomes]
rs9472521	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9472527	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9472530	0.85[ASN][1000 genomes]
rs9472532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45588400-45593600	Weak transcription	Fetal Lung	lung
2	chr6:45588400-45597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:45588600-45601000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:45589200-45594000	Weak transcription	Dnd41	blood
5	chr6:45589800-45593600	Weak transcription	HSMMtube	muscle
6	chr6:45592200-45593400	Enhancers	Osteobl	bone
7	chr6:45592200-45595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:45592400-45594200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45592400-45594800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:45592400-45594800	Enhancers	NHLF	lung
11	chr6:45592400-45595400	Enhancers	HSMM	muscle
12	chr6:45592600-45593600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:45592600-45594800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:45592600-45595000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:45592600-45595000	Enhancers	NHDF-Ad	bronchial
16	chr6:45592600-45595200	Enhancers	HMEC	breast
17	chr6:45592600-45595200	Enhancers	NH-A	brain
18	chr6:45592800-45593800	Enhancers	Hela-S3	cervix
19	chr6:45592800-45594800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:45592800-45595000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:45592800-45595200	Enhancers	NHEK	skin
22	chr6:45593000-45593200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:45593000-45593800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr6:45593000-45594000	Enhancers	Lung	lung
25	chr6:45593000-45594200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:45593000-45594400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:45593000-45594600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:45593000-45594600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:45593000-45594600	Enhancers	Fetal Stomach	stomach
30	chr6:45593000-45594800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:45593000-45594800	Enhancers	Esophagus	oesophagus
32	chr6:45593000-45595000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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