Variant report

Variant	rs807299
Chromosome Location	chr6:119949317-119949318
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119669632..119672498-chr6:119948932..119951034,2	MCF-7	breast:
2	chr6:119941042..119943563-chr6:119947616..119949679,2	MCF-7	breast:
3	chr6:119948119..119949628-chr6:119987885..119989459,2	K562	blood:
4	chr6:119941629..119944103-chr6:119947152..119949648,3	MCF-7	breast:
5	chr6:119920937..119923540-chr6:119948943..119951782,2	K562	blood:
6	chr6:119630356..119635588-chr6:119947996..119951157,4	K562	blood:
7	chr6:119947059..119949590-chr6:119958918..119960859,2	K562	blood:
8	chr6:119944693..119946342-chr6:119947208..119949593,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10782195	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11153840	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1572957	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1977147	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2024733	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2024734	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2794256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7754535	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs807302	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs807303	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs807309	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs807310	0.85[ASN][1000 genomes]
rs809889	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs813955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285433	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9320697	0.83[ASN][1000 genomes]
rs9320698	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9372544	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9374809	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9374810	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9385080	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9398517	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1027370	chr6:119869409-120056608	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538431	chr6:119869409-120056608	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119940400-119949800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:119947800-119950800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:119948000-119950000	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:119948000-119951200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:119948200-119949800	Enhancers	HMEC	breast
6	chr6:119948200-119950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:119948400-119949600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:119948400-119950000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:119948400-119950000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:119948400-119950400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:119948400-119951400	Enhancers	NHEK	skin
12	chr6:119948400-119951600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:119948600-119949600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:119948600-119950600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:119948600-119951400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:119948800-119949400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:119948800-119949800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:119948800-119949800	Flanking Active TSS	K562	blood
19	chr6:119948800-119949800	Enhancers	NH-A	brain
20	chr6:119948800-119949800	Enhancers	NHDF-Ad	bronchial
21	chr6:119948800-119950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:119949000-119949400	Enhancers	Brain Anterior Caudate	brain
23	chr6:119949000-119950000	Enhancers	Osteobl	bone
24	chr6:119949000-119951000	Enhancers	Stomach Mucosa	stomach
25	chr6:119949200-119949400	Enhancers	Pancreas	Pancrea
26	chr6:119949200-119949600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:119949200-119949800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:119949200-119950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:119949200-119950600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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