Variant report

Variant	rs62514985
Chromosome Location	chr8:107777279-107777280
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:107717302..107717984-chr8:107777132..107778206,3	MCF-7	breast:
2	chr8:107775742..107777895-chr8:107793732..107796183,2	MCF-7	breast:
3	chr8:107777184..107778060-chr8:107868481..107869205,4	MCF-7	breast:
4	chr8:107777116..107778171-chr8:107868404..107869398,4	MCF-7	breast:
5	chr8:107777209..107777910-chr8:107857636..107858793,3	MCF-7	breast:
6	chr22:20745968..20748924-chr8:107775858..107777888,2	MCF-7	breast:
7	chr8:107777185..107778453-chr8:107844735..107846577,8	MCF-7	breast:
8	chr8:107776853..107777682-chr8:107843674..107844419,2	MCF-7	breast:
9	chr8:107777004..107778114-chr8:107845048..107846673,7	MCF-7	breast:
10	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:
11	chr8:107752763..107754351-chr8:107776992..107778956,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185252	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11985106	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11990726	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991842	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993732	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996910	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260161	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28921379	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28921401	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28924697	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924705	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924708	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924709	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59850440	1.00[AMR][1000 genomes]
rs62514961	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514966	0.95[EUR][1000 genomes]
rs62514967	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514968	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514986	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514987	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514988	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514989	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514990	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514991	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514992	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514993	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514994	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514995	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514998	0.90[EUR][1000 genomes]
rs62515019	0.81[ASN][1000 genomes]
rs62515020	0.81[ASN][1000 genomes]
rs62517940	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
2	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
3	chr8:107753600-107777400	Weak transcription	HUVEC	blood vessel
4	chr8:107755800-107777800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:107756400-107777800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:107756600-107777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:107756600-107777400	Weak transcription	Psoas Muscle	Psoas
8	chr8:107756600-107777600	Weak transcription	Fetal Brain Female	brain
9	chr8:107761400-107777600	Weak transcription	Fetal Stomach	stomach
10	chr8:107772600-107777400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:107775400-107777400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:107775400-107777400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:107775400-107777400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:107775400-107777400	Weak transcription	Left Ventricle	heart
15	chr8:107775600-107777400	Weak transcription	Stomach Mucosa	stomach
16	chr8:107775800-107777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:107775800-107777400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:107775800-107777400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:107775800-107777400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:107775800-107777400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:107775800-107777400	Weak transcription	Fetal Intestine Large	intestine
22	chr8:107775800-107777400	Weak transcription	NHLF	lung
23	chr8:107775800-107777400	Weak transcription	Osteobl	bone
24	chr8:107776000-107777400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:107776000-107777400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:107776000-107777400	Weak transcription	Adipose Nuclei	Adipose
27	chr8:107776000-107777400	Weak transcription	Brain Anterior Caudate	brain
28	chr8:107776000-107777400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:107776000-107777400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:107776000-107777400	Weak transcription	Brain Substantia Nigra	brain
31	chr8:107776000-107777400	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:107776000-107777400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:107776000-107777400	Weak transcription	Fetal Kidney	kidney
34	chr8:107776000-107777400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:107776000-107777400	Weak transcription	Ovary	ovary
36	chr8:107776000-107777400	Weak transcription	Right Ventricle	heart
37	chr8:107776000-107777400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:107776000-107777600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:107776000-107777800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:107776000-107785000	Weak transcription	HSMMtube	muscle
41	chr8:107776200-107777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:107776200-107777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:107776200-107777400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:107776200-107777400	Weak transcription	NHDF-Ad	bronchial
45	chr8:107776800-107777400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:107776800-107782800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:107777000-107778000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:107777200-107777400	Active TSS	Fetal Lung	lung
49	chr8:107777200-107777800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:107777200-107777800	Enhancers	Liver	Liver

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