Variant report

Variant	rs57335321
Chromosome Location	chr6:100793640-100793641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:100792831..100794448-chr6:100794579..100796890,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11962725	1.00[AMR][1000 genomes]
rs11964322	1.00[AMR][1000 genomes]
rs55692601	1.00[AMR][1000 genomes]
rs56176715	1.00[AMR][1000 genomes]
rs56876848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59301700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60973981	1.00[AMR][1000 genomes]
rs73760809	1.00[AMR][1000 genomes]
rs73760820	1.00[AMR][1000 genomes]
rs73760821	1.00[AMR][1000 genomes]
rs73760822	1.00[AMR][1000 genomes]
rs73760824	1.00[AMR][1000 genomes]
rs73760825	1.00[AMR][1000 genomes]
rs73760826	1.00[AMR][1000 genomes]
rs73760828	1.00[AMR][1000 genomes]
rs73760831	1.00[AMR][1000 genomes]
rs73760853	1.00[AMR][1000 genomes]
rs73760862	1.00[AMR][1000 genomes]
rs73760864	1.00[AMR][1000 genomes]
rs73760865	1.00[AMR][1000 genomes]
rs73760866	1.00[AMR][1000 genomes]
rs73760870	1.00[AFR][1000 genomes];1.00[AMR][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	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
2	nsv1028122	chr6:100774245-100964347	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100785600-100794000	Weak transcription	Psoas Muscle	Psoas
2	chr6:100787800-100794000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:100790000-100794600	Enhancers	HUVEC	blood vessel
4	chr6:100790600-100794200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:100790600-100794400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:100790600-100794400	Enhancers	Osteobl	bone
7	chr6:100790600-100794600	Enhancers	NHDF-Ad	bronchial
8	chr6:100790800-100794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:100790800-100794400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:100790800-100794600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:100790800-100796800	Enhancers	HSMM	muscle
12	chr6:100790800-100796800	Enhancers	NH-A	brain
13	chr6:100791200-100794000	Weak transcription	Hela-S3	cervix
14	chr6:100791800-100794800	Enhancers	NHLF	lung
15	chr6:100792000-100794600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:100792000-100795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:100792200-100795800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:100792400-100796200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:100792800-100794400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:100792800-100794800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:100793000-100794400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:100793000-100794800	Weak transcription	Aorta	Aorta
23	chr6:100793200-100794000	Enhancers	A549	lung
24	chr6:100793400-100793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:100793400-100793800	Weak transcription	Fetal Heart	heart
26	chr6:100793400-100793800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:100793400-100793800	Flanking Active TSS	Dnd41	blood
28	chr6:100793400-100793800	Weak transcription	HSMMtube	muscle
29	chr6:100793400-100794200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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