Variant report

Variant	rs62510072
Chromosome Location	chr8:63950581-63950582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
2	chr8:63940680..63942601-chr8:63949219..63951590,2	MCF-7	breast:
3	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
4	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
5	chr8:63925789..63928059-chr8:63949158..63951177,2	MCF-7	breast:
6	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:
7	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
8	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137563	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000137561	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10112226	0.88[ASN][1000 genomes]
rs1031551	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545076	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988534	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989788	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544045	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547126	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682204	0.89[AFR][1000 genomes]
rs13267266	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273611	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1378526	0.91[ASN][1000 genomes]
rs1800909	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963947	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963948	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34099334	0.87[AFR][1000 genomes]
rs34169986	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34231825	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34264705	0.91[ASN][1000 genomes]
rs34349258	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34417501	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34428496	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34499912	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34554414	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34565227	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34753538	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35525331	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35551451	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35791650	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35915855	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35945381	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758149	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501570	0.91[ASN][1000 genomes]
rs4587328	0.91[ASN][1000 genomes]
rs4606052	0.91[ASN][1000 genomes]
rs4625028	0.88[ASN][1000 genomes]
rs4737628	0.88[ASN][1000 genomes]
rs57403824	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57800685	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62510090	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472072	0.88[ASN][1000 genomes]
rs6472073	0.88[ASN][1000 genomes]
rs66666227	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67742771	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994076	0.88[ASN][1000 genomes]
rs7006471	0.91[ASN][1000 genomes]
rs7823031	0.83[ASN][1000 genomes]
rs9792158	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3326059	chr8:63950223-63952971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62510072	GGH	cis	Adipose Subcutaneous	GTEx
rs62510072	GGH	cis	Skin Sun Exposed Lower leg	GTEx
rs62510072	GGH	cis	Esophagus Mucosa	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
3	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:63945800-63950600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:63945800-63950800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:63946000-63950600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:63946000-63950800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:63948600-63950600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:63949200-63950600	Enhancers	NHEK	skin
10	chr8:63949400-63950600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:63949400-63951000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:63949600-63950800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:63949800-63950800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:63949800-63952600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:63950000-63950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:63950000-63950600	Enhancers	Fetal Lung	lung
17	chr8:63950000-63950600	Flanking Active TSS	A549	lung
18	chr8:63950000-63950800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:63950000-63950800	Flanking Active TSS	Hela-S3	cervix
20	chr8:63950000-63951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:63950000-63951000	Weak transcription	Esophagus	oesophagus
22	chr8:63950000-63952000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:63950000-63952200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:63950000-63952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:63950000-63952600	Active TSS	NHLF	lung
26	chr8:63950200-63950600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:63950200-63950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:63950200-63950600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:63950200-63950600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:63950200-63950600	Active TSS	NH-A	brain
31	chr8:63950200-63950800	Flanking Active TSS	HUVEC	blood vessel
32	chr8:63950200-63951000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:63950200-63951000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:63950200-63951000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:63950200-63952000	Active TSS	HMEC	breast
36	chr8:63950200-63952200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:63950200-63952400	Active TSS	NHDF-Ad	bronchial
38	chr8:63950200-63952600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:63950200-63952800	Active TSS	K562	blood
40	chr8:63950400-63950600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:63950400-63950600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:63950400-63950600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:63950400-63950600	Enhancers	Primary T cells from cord blood	blood
44	chr8:63950400-63950600	Active TSS	Primary hematopoietic stem cells	blood
45	chr8:63950400-63950600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr8:63950400-63950600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:63950400-63950600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:63950400-63950600	Enhancers	Adipose Nuclei	Adipose
49	chr8:63950400-63950600	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:63950400-63950600	Enhancers	Brain Inferior Temporal Lobe	brain

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