Variant report

Variant	rs16873583
Chromosome Location	chr6:45593732-45593733
allele	G/T
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:
2	chr6:45586124..45588757-chr6:45593642..45595317,2	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	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1388241	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16873539	0.81[ASN][1000 genomes]
rs60609330	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458451	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458452	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899787	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916354	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920690	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920919	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924440	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444563	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444568	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444573	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444576	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444578	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444590	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73457139	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73457146	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742188	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751722	0.97[AMR][1000 genomes];0.99[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:32 , 50 per page) page: 1

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

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