Variant report

Variant	rs6941683
Chromosome Location	chr6:45587218-45587219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45586124..45588757-chr6:45593642..45595317,2	K562	blood:
2	chr6:45585562..45587512-chr6:45588104..45589715,2	MCF-7	breast:
3	chr6:45575640..45578537-chr6:45586483..45588913,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12525863	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12526713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12526748	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12663992	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1491141	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873550	0.86[CHB][hapmap]
rs16873553	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56935686	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6914126	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6927048	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938247	0.86[CHB][hapmap]
rs6938758	0.84[CHB][hapmap]
rs6941890	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942113	0.85[CHB][hapmap]
rs73738525	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7746733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7752782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7765045	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs913804	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9463109	0.82[AMR][1000 genomes]
rs9472517	0.91[ASN][1000 genomes]
rs9472526	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472529	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45579000-45587800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:45582600-45587400	Weak transcription	NHDF-Ad	bronchial
3	chr6:45582800-45588200	Weak transcription	Fetal Lung	lung
4	chr6:45583200-45587600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:45583200-45587800	Weak transcription	NHEK	skin
6	chr6:45583400-45587400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:45583600-45587600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:45584600-45588600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45584600-45589000	Enhancers	HSMM	muscle
10	chr6:45585600-45587400	Weak transcription	HSMMtube	muscle
11	chr6:45585800-45587400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:45585800-45587400	Weak transcription	NH-A	brain
13	chr6:45586000-45587600	Weak transcription	HMEC	breast
14	chr6:45586000-45588000	Weak transcription	Hela-S3	cervix
15	chr6:45586400-45587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:45586400-45587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:45587000-45588400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:45587000-45588400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:45587000-45588600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:45587200-45588600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:45587200-45588600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:45587200-45588600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr6:45587200-45588600	Enhancers	NHLF	lung
24	chr6:45587200-45588600	Enhancers	Osteobl	bone
25	chr6:45587200-45589000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:45587200-45589000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:45587200-45589200	Enhancers	Primary T helper cells PMA-I stimulated	--

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