Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:45670301..45673769-chr6:45674281..45677380,3	K562	blood:
2	chr6:45671026..45673654-chr6:45673720..45675383,2	MCF-7	breast:
3	chr6:45670408..45672045-chr6:45672910..45674468,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10948245	0.82[JPT][hapmap]
rs10948248	0.85[ASN][1000 genomes]
rs12175323	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12661654	0.83[JPT][hapmap]
rs12663985	0.82[JPT][hapmap]
rs1388242	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1388244	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1491139	0.86[ASN][1000 genomes]
rs1994682	0.83[JPT][hapmap]
rs2396505	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2782660	0.82[CHB][hapmap]
rs321324	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs321325	0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4326224	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs4714864	0.88[ASN][1000 genomes]
rs6458458	0.86[ASN][1000 genomes]
rs6919919	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935044	0.85[CEU][hapmap]
rs73735437	0.85[ASN][1000 genomes]
rs73735442	0.85[ASN][1000 genomes]
rs7762915	0.82[JPT][hapmap]
rs9349324	0.86[ASN][1000 genomes]
rs9357490	0.93[ASN][1000 genomes]
rs9369572	0.81[ASN][1000 genomes]
rs9395110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9395111	0.81[ASN][1000 genomes]
rs9472548	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9472552	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs9472557	0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]

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	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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45664200-45672400	Enhancers	Hela-S3	cervix
2	chr6:45666000-45671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:45666200-45672000	Weak transcription	HSMM	muscle
4	chr6:45667400-45671800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:45668000-45672200	Weak transcription	HSMMtube	muscle
6	chr6:45668000-45678000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:45669400-45672400	Enhancers	NHDF-Ad	bronchial
8	chr6:45669600-45672400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:45670000-45672400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:45670000-45672400	Enhancers	NHEK	skin
11	chr6:45670000-45672600	Enhancers	HMEC	breast
12	chr6:45670200-45672400	Enhancers	NH-A	brain
13	chr6:45670600-45671600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:45670600-45671600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:45670600-45672600	Enhancers	Osteobl	bone
16	chr6:45670800-45672200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:45671000-45678000	Weak transcription	NHLF	lung
18	chr6:45671200-45678000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:45671400-45672200	Weak transcription	Muscle Satellite Cultured Cells	--

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