Variant report

Variant	rs2179953
Chromosome Location	chr6:73458131-73458132
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	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:

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

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

rs_ID	r²[population]
rs16882798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1935518	1.00[EUR][1000 genomes]
rs1935521	1.00[EUR][1000 genomes]
rs1935524	1.00[EUR][1000 genomes]
rs1935525	1.00[EUR][1000 genomes]
rs2796002	1.00[EUR][1000 genomes]
rs2796004	1.00[EUR][1000 genomes]
rs2995344	1.00[EUR][1000 genomes]
rs7743377	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442833	1.00[EUR][1000 genomes]
rs9442849	1.00[EUR][1000 genomes]
rs9442852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442857	1.00[EUR][1000 genomes]
rs9446723	1.00[EUR][1000 genomes]
rs9446744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446747	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9446765	1.00[EUR][1000 genomes]
rs9446766	1.00[EUR][1000 genomes]
rs9446767	1.00[EUR][1000 genomes]
rs9446768	1.00[EUR][1000 genomes]
rs9446770	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886154	chr6:73442239-73471683	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73450000-73458400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73451800-73458400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:73452600-73469800	Weak transcription	Aorta	Aorta
4	chr6:73454000-73458400	Weak transcription	Psoas Muscle	Psoas
5	chr6:73455200-73458400	Enhancers	NHEK	skin
6	chr6:73455200-73460000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:73455400-73461000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:73455600-73458200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:73455600-73458400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:73455800-73458400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:73456200-73461000	Enhancers	HMEC	breast
12	chr6:73457200-73458200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:73457200-73461000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:73457400-73459400	Enhancers	Osteobl	bone
15	chr6:73457400-73460000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:73457400-73460000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:73457400-73460000	Enhancers	HSMM	muscle
18	chr6:73457600-73459600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:73457800-73458600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:73457800-73458800	Enhancers	GM12878-XiMat	blood
21	chr6:73457800-73459000	Enhancers	HSMMtube	muscle
22	chr6:73457800-73459200	Enhancers	NH-A	brain
23	chr6:73457800-73459400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:73458000-73458200	Enhancers	Primary B cells from cord blood	blood
25	chr6:73458000-73459000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:73458000-73459200	Enhancers	NHDF-Ad	bronchial
27	chr6:73458000-73459600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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