Variant report

Variant	rs62443332
Chromosome Location	chr6:86220541-86220542
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	chr6:86215713..86217410-chr6:86218817..86221712,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs62443304	1.00[ASN][1000 genomes]
rs62443330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443351	1.00[ASN][1000 genomes]
rs62443354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443355	1.00[ASN][1000 genomes]
rs62443357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443358	1.00[ASN][1000 genomes]
rs62444966	1.00[ASN][1000 genomes]
rs62444986	1.00[ASN][1000 genomes]
rs62444987	1.00[AFR][1000 genomes]
rs62444988	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86176800-86242600	Weak transcription	Gastric	stomach
2	chr6:86192800-86221400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:86193000-86221200	Weak transcription	A549	lung
4	chr6:86196800-86221600	Weak transcription	Spleen	Spleen
5	chr6:86200600-86221800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:86207000-86221600	Weak transcription	Lung	lung
7	chr6:86207200-86221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:86207200-86221600	Weak transcription	Brain Germinal Matrix	brain
9	chr6:86207200-86238400	Weak transcription	Esophagus	oesophagus
10	chr6:86207400-86221400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:86207400-86221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:86207400-86221600	Weak transcription	Aorta	Aorta
13	chr6:86207400-86221600	Weak transcription	Fetal Stomach	stomach
14	chr6:86208600-86221000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
16	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
17	chr6:86209000-86221200	Weak transcription	Thymus	Thymus
18	chr6:86209000-86221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:86209000-86222600	Weak transcription	HepG2	liver
20	chr6:86209200-86221200	Weak transcription	NHEK	skin
21	chr6:86209200-86221400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:86209200-86222600	Weak transcription	Stomach Mucosa	stomach
23	chr6:86209200-86223000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:86210000-86221000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:86210000-86221200	Weak transcription	Hela-S3	cervix
26	chr6:86211400-86246400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:86212000-86224800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:86212000-86228600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:86212000-86246600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:86212200-86221600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:86214000-86225000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:86215200-86224200	Strong transcription	NHDF-Ad	bronchial
33	chr6:86215800-86227600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:86216000-86225400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr6:86216200-86225600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr6:86216400-86221000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:86216400-86224600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:86216400-86224800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:86217000-86224200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:86217000-86224600	Strong transcription	HSMM	muscle
41	chr6:86217400-86223400	Strong transcription	Left Ventricle	heart
42	chr6:86217600-86223400	Strong transcription	Fetal Intestine Large	intestine
43	chr6:86217600-86223400	Strong transcription	HSMMtube	muscle
44	chr6:86217600-86223800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:86217600-86224000	Strong transcription	Brain Anterior Caudate	brain
46	chr6:86217600-86224200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:86217600-86224200	Strong transcription	Placenta	Placenta
48	chr6:86217600-86224800	Strong transcription	Primary B cells from cord blood	blood
49	chr6:86217800-86224400	Strong transcription	Adipose Nuclei	Adipose
50	chr6:86218000-86224400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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