Variant report

Variant	rs62520595
Chromosome Location	chr8:124087507-124087508
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124084323..124086824-chr8:124087333..124089565,2	K562	blood:
2	chr8:124052126..124055973-chr8:124084563..124088641,5	K562	blood:
3	chr8:124084724..124088009-chr8:124091095..124095097,5	MCF-7	breast:
4	chr8:124084655..124087392-chr8:124087488..124090998,7	MCF-7	breast:
5	chr8:124037217..124040718-chr8:124083321..124087572,3	MCF-7	breast:
6	chr8:124084715..124088228-chr8:124092859..124096035,4	K562	blood:

Variant related genes	Relation type
ENSG00000156787	Chromatin interaction
ENSG00000136986	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10105355	1.00[ASN][1000 genomes]
rs4489325	1.00[ASN][1000 genomes]
rs57815619	1.00[ASN][1000 genomes]
rs59697406	1.00[ASN][1000 genomes]
rs62520596	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520599	1.00[ASN][1000 genomes]
rs62520600	1.00[ASN][1000 genomes]
rs62520601	1.00[ASN][1000 genomes]
rs62521769	1.00[ASN][1000 genomes]
rs62521770	1.00[ASN][1000 genomes]
rs62521771	1.00[ASN][1000 genomes]
rs62521772	1.00[ASN][1000 genomes]
rs62521773	1.00[ASN][1000 genomes]
rs62521775	1.00[ASN][1000 genomes]
rs62521778	1.00[ASN][1000 genomes]
rs73337868	1.00[ASN][1000 genomes]
rs73337885	1.00[ASN][1000 genomes]
rs73337894	1.00[ASN][1000 genomes]
rs73703793	1.00[ASN][1000 genomes]
rs73703796	1.00[ASN][1000 genomes]
rs73703800	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124084400-124087600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:124085800-124118800	Weak transcription	Small Intestine	intestine
3	chr8:124086000-124087600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:124086000-124087600	Active TSS	GM12878-XiMat	blood
5	chr8:124086000-124087600	Enhancers	HepG2	liver
6	chr8:124086000-124089800	Weak transcription	Fetal Stomach	stomach
7	chr8:124086000-124090000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:124086000-124090000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:124086000-124090800	Weak transcription	Fetal Lung	lung
10	chr8:124086000-124094600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:124086000-124094600	Weak transcription	HUVEC	blood vessel
12	chr8:124086000-124094800	Weak transcription	Liver	Liver
13	chr8:124086000-124094800	Weak transcription	Fetal Intestine Large	intestine
14	chr8:124086000-124095200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:124086000-124095200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:124086000-124095200	Weak transcription	Left Ventricle	heart
17	chr8:124086000-124095400	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:124086000-124097400	Weak transcription	Osteobl	bone
19	chr8:124086000-124098400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:124086000-124108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:124086000-124109600	Weak transcription	HMEC	breast
22	chr8:124086000-124111200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:124086000-124112400	Weak transcription	NH-A	brain
24	chr8:124086000-124113400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:124086000-124115600	Weak transcription	Right Ventricle	heart
26	chr8:124086000-124115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:124086000-124116200	Weak transcription	Brain Substantia Nigra	brain
28	chr8:124086000-124116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:124086000-124117200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:124086000-124117200	Weak transcription	HSMMtube	muscle
31	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
33	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:124086200-124088800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:124086200-124089800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:124086200-124089800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:124086200-124090400	Weak transcription	Primary B cells from cord blood	blood
40	chr8:124086200-124091600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:124086200-124092000	Weak transcription	HSMM	muscle
42	chr8:124086200-124094000	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:124086200-124094000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:124086200-124094400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:124086200-124095000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:124086200-124095000	Weak transcription	Fetal Brain Female	brain
47	chr8:124086200-124096000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:124086200-124096000	Weak transcription	Brain Anterior Caudate	brain
49	chr8:124086200-124096200	Weak transcription	Adipose Nuclei	Adipose
50	chr8:124086200-124098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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