Variant report

Variant	rs62385775
Chromosome Location	chr6:13463914-13463915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13463059..13465217-chr6:13614576..13616808,2	MCF-7	breast:
2	chr6:13463240..13466213-chr6:13468578..13470561,2	MCF-7	breast:
3	chr6:13461316..13464526-chr6:13474276..13478535,4	MCF-7	breast:
4	chr6:13458896..13460538-chr6:13462649..13464736,2	K562	blood:
5	chr6:13463587..13466564-chr6:13486037..13488504,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145990	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000187461	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1863995	0.99[ASN][1000 genomes]
rs2841560	0.97[EUR][1000 genomes]
rs2841565	0.99[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13452200-13483400	Weak transcription	Gastric	stomach
2	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
3	chr6:13455200-13466600	Weak transcription	Pancreas	Pancrea
4	chr6:13455200-13484400	Weak transcription	Small Intestine	intestine
5	chr6:13455200-13484600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:13455400-13481000	Weak transcription	HUVEC	blood vessel
7	chr6:13456200-13464400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:13456200-13466200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:13456600-13467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:13458200-13465600	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:13458200-13465800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:13458200-13466000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:13458200-13466000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:13458200-13466600	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:13458400-13466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:13459000-13466200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:13461200-13464600	Enhancers	Right Atrium	heart
18	chr6:13461200-13465200	Enhancers	Fetal Lung	lung
19	chr6:13461400-13464000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:13461600-13464000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:13461800-13464000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:13461800-13464000	Enhancers	Brain Anterior Caudate	brain
23	chr6:13461800-13468000	Enhancers	NHLF	lung
24	chr6:13462000-13464600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:13462000-13464800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:13462200-13464800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:13462400-13464400	Weak transcription	Aorta	Aorta
28	chr6:13462400-13465800	Weak transcription	Esophagus	oesophagus
29	chr6:13462400-13466400	Weak transcription	Hela-S3	cervix
30	chr6:13462600-13464400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:13462600-13465000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:13462600-13470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:13462800-13464600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:13462800-13465600	Weak transcription	HMEC	breast
35	chr6:13462800-13465800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:13462800-13484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:13463000-13468200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:13463000-13468200	Enhancers	Psoas Muscle	Psoas
39	chr6:13463000-13470800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:13463200-13464000	Enhancers	Fetal Brain Male	brain
41	chr6:13463200-13464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:13463200-13464400	Weak transcription	Right Ventricle	heart
43	chr6:13463200-13464800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:13463200-13464800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:13463200-13464800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:13463200-13465600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:13463200-13465800	Weak transcription	NHEK	skin
48	chr6:13463200-13466200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:13463200-13466200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:13463200-13468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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