Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:73336496..73338956-chr6:73352986..73355194,2	K562	blood:
2	chr6:73332489..73334434-chr6:73351844..73354373,2	K562	blood:
3	chr6:73351149..73353791-chr6:73359149..73361413,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10080760	0.81[YRI][hapmap]
rs12523691	0.87[YRI][hapmap]
rs1410764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16882726	0.93[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs17740488	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17796644	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1884090	0.87[YRI][hapmap]
rs4706509	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4707981	1.00[YRI][hapmap]
rs4707983	0.87[YRI][hapmap]
rs55982853	0.80[ASN][1000 genomes]
rs57838719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58442660	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61075759	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62410660	0.83[ASN][1000 genomes]
rs6904964	0.93[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs6915647	0.86[YRI][hapmap]
rs6924191	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs6937158	1.00[YRI][hapmap]
rs73533660	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73533661	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7451091	0.87[YRI][hapmap]
rs769133	0.87[YRI][hapmap]
rs867521	0.94[YRI][hapmap]
rs9360572	1.00[YRI][hapmap]
rs9360587	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73334400-73358800	Weak transcription	HSMM	muscle
2	chr6:73334600-73356200	Weak transcription	HMEC	breast
3	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:73337400-73356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73338600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73346800-73358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:73349400-73354000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:73349400-73354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:73350000-73354800	Weak transcription	Psoas Muscle	Psoas
11	chr6:73352000-73353200	Enhancers	GM12878-XiMat	blood
12	chr6:73352000-73358600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:73352800-73353200	Enhancers	Primary T cells from cord blood	blood

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