Variant report

Variant	rs62413383
Chromosome Location	chr6:80280939-80280940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80280191..80281527-chr6:80382018..80383050,5	K562	blood:
2	chr6:80279995..80281714-chr6:80381655..80383225,21	MCF-7	breast:
3	chr6:80280090..80282233-chr6:80340167..80342160,2	K562	blood:
4	chr6:80280535..80281103-chr6:80296032..80296889,2	MCF-7	breast:
5	chr6:80280436..80281170-chr6:80326479..80327214,2	MCF-7	breast:
6	chr6:80280137..80281094-chr6:80382107..80382882,6	MCF-7	breast:
7	chr6:80274259..80277516-chr6:80279204..80282534,3	K562	blood:

Variant related genes	Relation type
ENSG00000198478	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12178357	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16890789	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16890805	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16890832	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16890833	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2134854	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411327	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62411328	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62411329	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62411333	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62411355	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62411357	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62411359	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413361	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413365	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413367	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413400	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413402	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413403	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62413404	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413406	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413407	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413408	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413409	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62413411	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413412	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62413418	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413420	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413423	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80260800-80283000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:80278000-80287400	Weak transcription	Small Intestine	intestine
3	chr6:80278600-80281000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:80278600-80283000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:80278800-80281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:80279000-80281000	Enhancers	Fetal Brain Male	brain
7	chr6:80279200-80281000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:80279200-80281000	Enhancers	HepG2	liver
9	chr6:80279400-80281000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:80279400-80281000	Enhancers	HSMMtube	muscle
11	chr6:80279400-80281000	Enhancers	NH-A	brain
12	chr6:80279400-80287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:80279600-80281000	Enhancers	NHEK	skin
14	chr6:80279800-80284600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:80280200-80281000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:80280200-80281000	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:80280200-80281000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:80280200-80281000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:80280200-80281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:80280200-80281200	Enhancers	Fetal Heart	heart
21	chr6:80280200-80283800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:80280400-80281000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:80280400-80281000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:80280400-80281000	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr6:80280400-80281000	Active TSS	Stomach Mucosa	stomach
26	chr6:80280400-80282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:80280600-80281000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:80280600-80281000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:80280600-80281000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:80280600-80281000	Enhancers	Primary T cells from cord blood	blood
31	chr6:80280600-80281000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:80280600-80281000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:80280600-80281000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:80280600-80281000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:80280600-80281000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:80280600-80281000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:80280600-80281000	Active TSS	Aorta	Aorta
38	chr6:80280600-80281000	Active TSS	Brain Angular Gyrus	brain
39	chr6:80280600-80281000	Active TSS	Brain Anterior Caudate	brain
40	chr6:80280600-80281000	Active TSS	Brain Cingulate Gyrus	brain
41	chr6:80280600-80281000	Active TSS	Brain Hippocampus Middle	brain
42	chr6:80280600-80281000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:80280600-80281000	Active TSS	Brain Substantia Nigra	brain
44	chr6:80280600-80281000	Active TSS	Colon Smooth Muscle	Colon
45	chr6:80280600-80281000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:80280600-80281000	Active TSS	Fetal Intestine Large	intestine
47	chr6:80280600-80281000	Flanking Active TSS	Fetal Lung	lung
48	chr6:80280600-80281000	Active TSS	Fetal Stomach	stomach
49	chr6:80280600-80281000	Active TSS	Ovary	ovary
50	chr6:80280600-80281000	Active TSS	Rectal Mucosa Donor 29	rectum

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