Variant report

Variant	rs62385769
Chromosome Location	chr6:13445057-13445058
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	chr6:13327291..13329947-chr6:13444548..13447508,3	K562	blood:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1345029	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1345030	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17768735	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992385	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61657352	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9349618	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9395787	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13432600-13445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
4	chr6:13433200-13445200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:13433600-13445400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:13434400-13445200	Weak transcription	Fetal Heart	heart
7	chr6:13434400-13445200	Weak transcription	Pancreas	Pancrea
8	chr6:13434400-13448000	Weak transcription	Esophagus	oesophagus
9	chr6:13437200-13445200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:13437600-13445200	Weak transcription	Fetal Thymus	thymus
11	chr6:13438000-13445200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:13438000-13445200	Weak transcription	GM12878-XiMat	blood
13	chr6:13438200-13448400	Weak transcription	Small Intestine	intestine
14	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:13439600-13445200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:13440200-13445400	Weak transcription	Psoas Muscle	Psoas
17	chr6:13441200-13445200	Weak transcription	Brain Substantia Nigra	brain
18	chr6:13441400-13445200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:13441400-13448800	Weak transcription	Stomach Mucosa	stomach
20	chr6:13441600-13445200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:13441600-13445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:13441600-13445200	Weak transcription	Liver	Liver
23	chr6:13441600-13445200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:13441600-13445200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:13441600-13445200	Weak transcription	Right Ventricle	heart
26	chr6:13441600-13445400	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:13441600-13445400	Weak transcription	NHLF	lung
28	chr6:13441600-13451600	Weak transcription	Gastric	stomach
29	chr6:13441600-13454400	Weak transcription	Placenta	Placenta
30	chr6:13441800-13445200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:13441800-13445200	Weak transcription	Brain Anterior Caudate	brain
32	chr6:13441800-13445200	Weak transcription	Fetal Stomach	stomach
33	chr6:13442400-13445200	Weak transcription	Adipose Nuclei	Adipose
34	chr6:13442400-13445200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:13442400-13445200	Weak transcription	Fetal Brain Male	brain
36	chr6:13442400-13445200	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:13442400-13445200	Weak transcription	Left Ventricle	heart
38	chr6:13442400-13445200	Weak transcription	Lung	lung
39	chr6:13442400-13445200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:13442400-13445200	Weak transcription	Right Atrium	heart
41	chr6:13442400-13445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:13442400-13445400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:13442800-13445200	Weak transcription	Colonic Mucosa	Colon
44	chr6:13442800-13445200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:13442800-13448000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:13444200-13450400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:13444600-13446200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:13444600-13447000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:13444800-13445800	Enhancers	Primary B cells from cord blood	blood
50	chr6:13444800-13446800	Enhancers	Fetal Lung	lung

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