Variant report

Variant	rs73444568
Chromosome Location	chr6:45588652-45588653
allele	G/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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11968718	0.81[ASN][1000 genomes]
rs1388241	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16873539	0.81[ASN][1000 genomes]
rs16873583	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60609330	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458451	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920919	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444576	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444578	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444590	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73457139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73457146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45584600-45589000	Enhancers	HSMM	muscle
2	chr6:45587200-45589000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:45587200-45589000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr6:45587200-45589200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr6:45587400-45588800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr6:45587400-45588800	Enhancers	HSMMtube	muscle
7	chr6:45587400-45589000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:45587400-45589000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:45587400-45589200	Enhancers	Dnd41	blood
10	chr6:45587600-45588800	Enhancers	Primary T cells from cord blood	blood
11	chr6:45587600-45589200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:45587800-45589200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:45587800-45589400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:45588200-45592800	Weak transcription	NHEK	skin
15	chr6:45588200-45593000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:45588400-45592200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:45588400-45592600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:45588400-45592600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:45588400-45592600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:45588400-45592600	Weak transcription	NH-A	brain
21	chr6:45588400-45592800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:45588400-45592800	Weak transcription	Hela-S3	cervix
23	chr6:45588400-45593000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:45588400-45593000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:45588400-45593600	Weak transcription	Fetal Lung	lung
26	chr6:45588400-45597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:45588600-45592200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:45588600-45592200	Weak transcription	Osteobl	bone
29	chr6:45588600-45592400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:45588600-45592400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:45588600-45592400	Weak transcription	NHLF	lung
32	chr6:45588600-45592600	Weak transcription	HMEC	breast
33	chr6:45588600-45592600	Weak transcription	NHDF-Ad	bronchial
34	chr6:45588600-45601000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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