Variant report

Variant	rs195062
Chromosome Location	chr6:119650386-119650387
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119646815..119653075-chr6:119668578..119671016,6	K562	blood:
2	chr6:119639287..119641079-chr6:119648942..119650779,2	K562	blood:
3	chr6:119648699..119654492-chr6:119662714..119668241,6	K562	blood:
4	chr6:119649907..119652799-chr6:119665280..119667336,2	MCF-7	breast:
5	chr6:119645956..119647661-chr6:119649271..119650786,2	K562	blood:
6	chr6:119645412..119648309-chr6:119648724..119650771,3	K562	blood:
7	chr6:119650127..119652249-chr6:119661501..119664214,3	K562	blood:
8	chr6:119644552..119646145-chr6:119648856..119651742,2	MCF-7	breast:
9	chr6:119648921..119652140-chr6:119668699..119671040,3	K562	blood:
10	chr6:119649666..119652399-chr6:119665160..119668137,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1104741	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11153798	0.85[EUR][1000 genomes]
rs11153802	0.93[EUR][1000 genomes]
rs11153813	0.80[ASN][1000 genomes]
rs11962211	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12207164	0.85[EUR][1000 genomes]
rs12211868	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1295379	0.80[ASN][1000 genomes]
rs1295386	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1295390	0.80[ASN][1000 genomes]
rs1298630	0.86[AMR][1000 genomes]
rs1342316	0.83[AMR][1000 genomes]
rs1408491	0.81[EUR][1000 genomes]
rs1408492	0.93[EUR][1000 genomes]
rs1408493	0.91[EUR][1000 genomes]
rs1797064	0.81[ASN][1000 genomes]
rs195046	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195051	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195063	0.90[ASN][1000 genomes]
rs195071	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195076	0.90[ASN][1000 genomes]
rs195078	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195081	0.90[ASN][1000 genomes]
rs195083	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195085	0.85[ASN][1000 genomes]
rs195086	0.86[ASN][1000 genomes]
rs195088	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs195091	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2064160	0.84[EUR][1000 genomes]
rs2142890	0.84[EUR][1000 genomes]
rs2180040	0.83[AMR][1000 genomes]
rs2267672	0.83[EUR][1000 genomes]
rs2299881	0.85[ASN][1000 genomes]
rs2357162	0.83[EUR][1000 genomes]
rs3798609	0.84[EUR][1000 genomes]
rs3822997	0.83[EUR][1000 genomes]
rs4945633	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946409	0.85[ASN][1000 genomes]
rs6569063	0.87[ASN][1000 genomes]
rs6569074	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569075	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6921356	0.86[ASN][1000 genomes]
rs6924723	0.84[ASN][1000 genomes]
rs7357047	0.83[EUR][1000 genomes]
rs7357048	0.85[EUR][1000 genomes]
rs7765368	0.81[ASN][1000 genomes]
rs7773367	0.86[ASN][1000 genomes]
rs9320684	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9372527	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9374791	0.83[AMR][1000 genomes]
rs9385068	0.84[EUR][1000 genomes]
rs9398510	0.83[AMR][1000 genomes]
rs9489625	0.84[EUR][1000 genomes]
rs9489627	0.84[EUR][1000 genomes]
rs9489628	0.85[EUR][1000 genomes]
rs9489633	0.91[EUR][1000 genomes]
rs9489654	0.88[ASN][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:119627800-119667000	Weak transcription	Gastric	stomach
3	chr6:119636000-119661600	Weak transcription	Colonic Mucosa	Colon
4	chr6:119636200-119650800	Weak transcription	Placenta	Placenta
5	chr6:119636200-119661600	Weak transcription	NHDF-Ad	bronchial
6	chr6:119636200-119662000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
8	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:119636400-119656000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:119636600-119655800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:119637200-119651200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:119637200-119656600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:119639800-119655800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:119641000-119652200	Genic enhancers	HepG2	liver
15	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:119642800-119656000	Weak transcription	Ovary	ovary
17	chr6:119644200-119651400	Weak transcription	Small Intestine	intestine
18	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:119644400-119651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:119644600-119661800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:119644800-119661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:119645000-119652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:119645000-119652800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:119645000-119659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
26	chr6:119645200-119661800	Weak transcription	Fetal Kidney	kidney
27	chr6:119645400-119650800	Weak transcription	Fetal Intestine Large	intestine
28	chr6:119645400-119653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:119645600-119652800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:119645800-119652800	Weak transcription	NHEK	skin
31	chr6:119646200-119652000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:119646600-119654600	Genic enhancers	K562	blood
33	chr6:119646800-119654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:119647600-119651800	Weak transcription	Left Ventricle	heart
35	chr6:119647600-119652600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:119647600-119652800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:119647600-119662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:119647600-119664400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:119647800-119650600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:119647800-119651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:119647800-119655800	Weak transcription	Fetal Lung	lung
42	chr6:119647800-119655800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr6:119647800-119661400	Weak transcription	Spleen	Spleen
44	chr6:119648000-119651800	Weak transcription	Fetal Intestine Small	intestine
45	chr6:119648200-119650800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:119648200-119650800	Weak transcription	Pancreas	Pancrea
47	chr6:119648200-119652800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:119648200-119652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:119648200-119657000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:119648200-119661400	Weak transcription	Lung	lung

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