Variant report

Variant	rs6927048
Chromosome Location	chr6:45588184-45588185
allele	C/T
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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10080253	0.82[AFR][1000 genomes]
rs12525863	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12526713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12526748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12661055	0.86[AFR][1000 genomes]
rs12663992	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1491141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873550	0.86[CHB][hapmap]
rs16873553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56935686	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58129892	0.87[AFR][1000 genomes]
rs60884282	0.86[AFR][1000 genomes]
rs6458453	0.86[AFR][1000 genomes]
rs6902401	0.89[AFR][1000 genomes]
rs6914126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6916895	0.89[AFR][1000 genomes]
rs6917651	0.89[AFR][1000 genomes]
rs6930188	0.91[AFR][1000 genomes]
rs6934210	0.87[AFR][1000 genomes]
rs6936365	0.91[AFR][1000 genomes]
rs6938247	0.86[CHB][hapmap]
rs6938758	0.85[CHB][hapmap]
rs6940187	0.89[AFR][1000 genomes]
rs6941683	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941890	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941971	0.89[AFR][1000 genomes]
rs6942113	0.85[CHB][hapmap]
rs73738525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73738526	0.89[AFR][1000 genomes]
rs73738527	0.87[AFR][1000 genomes]
rs73738528	0.85[AFR][1000 genomes]
rs7746733	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7752782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7763886	0.88[AFR][1000 genomes]
rs7765045	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs913804	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9463109	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9472517	0.91[ASN][1000 genomes]
rs9472526	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472527	0.89[AFR][1000 genomes]
rs9472529	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472532	0.82[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45582800-45588200	Weak transcription	Fetal Lung	lung
2	chr6:45584600-45588600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:45584600-45589000	Enhancers	HSMM	muscle
4	chr6:45587000-45588400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:45587000-45588400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:45587000-45588600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:45587200-45588600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:45587200-45588600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:45587200-45588600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:45587200-45588600	Enhancers	NHLF	lung
11	chr6:45587200-45588600	Enhancers	Osteobl	bone
12	chr6:45587200-45589000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:45587200-45589000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:45587200-45589200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:45587400-45588400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:45587400-45588400	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:45587400-45588400	Enhancers	NH-A	brain
18	chr6:45587400-45588600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:45587400-45588600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:45587400-45588600	Enhancers	NHDF-Ad	bronchial
21	chr6:45587400-45588800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:45587400-45588800	Enhancers	HSMMtube	muscle
23	chr6:45587400-45589000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:45587400-45589000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:45587400-45589200	Enhancers	Dnd41	blood
26	chr6:45587600-45588200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:45587600-45588400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:45587600-45588400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:45587600-45588400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:45587600-45588600	Enhancers	HMEC	breast
31	chr6:45587600-45588800	Enhancers	Primary T cells from cord blood	blood
32	chr6:45587600-45589200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:45587800-45588200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:45587800-45588200	Enhancers	NHEK	skin
35	chr6:45587800-45588400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:45587800-45588400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:45587800-45588600	Enhancers	Primary B cells from peripheral blood	blood
38	chr6:45587800-45588600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:45587800-45588600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:45587800-45588600	Enhancers	Fetal Thymus	thymus
41	chr6:45587800-45589200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr6:45587800-45589400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:45588000-45588200	Enhancers	Psoas Muscle	Psoas
44	chr6:45588000-45588400	Enhancers	Spleen	Spleen
45	chr6:45588000-45588400	Enhancers	Hela-S3	cervix
46	chr6:45588000-45588600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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