Variant report

Variant	rs62513080
Chromosome Location	chr8:67954577-67954578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67925503..67928364-chr8:67953091..67954593,2	K562	blood:
2	chr8:67836075..67839074-chr8:67952492..67955160,2	K562	blood:
3	chr8:67954083..67956145-chr8:67960626..67964326,3	K562	blood:
4	chr8:67942578..67944966-chr8:67951636..67954631,2	K562	blood:
5	chr8:67952940..67955434-chr8:67955760..67957321,2	K562	blood:

Variant related genes	Relation type
ENSG00000178125	Chromatin interaction
ENSG00000245910	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62512659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513082	1.00[EUR][1000 genomes]
rs62513125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513129	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67941200-67954600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:67941200-67954800	Weak transcription	NH-A	brain
3	chr8:67941200-67957400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:67941400-67954600	Weak transcription	A549	lung
5	chr8:67941600-67956000	Weak transcription	Brain Germinal Matrix	brain
6	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
7	chr8:67942000-67954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:67946000-67959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:67947400-67955400	Weak transcription	HMEC	breast
10	chr8:67948400-67954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:67948400-67960000	Weak transcription	Gastric	stomach
12	chr8:67949800-67960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:67950400-67955400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:67950400-67957600	Weak transcription	NHEK	skin
15	chr8:67951000-67956400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:67951200-67954800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:67951200-67959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:67951400-67954600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:67951400-67954600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:67951400-67954600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:67951400-67957600	Weak transcription	Colonic Mucosa	Colon
22	chr8:67951400-67957600	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:67951400-67957600	Weak transcription	HSMMtube	muscle
24	chr8:67951600-67954800	Weak transcription	Hela-S3	cervix
25	chr8:67951600-67954800	Weak transcription	NHDF-Ad	bronchial
26	chr8:67951600-67956400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:67951600-67957600	Weak transcription	HUVEC	blood vessel
28	chr8:67951800-67954600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:67951800-67954600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:67951800-67956000	Weak transcription	Brain Angular Gyrus	brain
31	chr8:67951800-67956200	Weak transcription	Fetal Brain Female	brain
32	chr8:67951800-67957600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:67951800-67957600	Weak transcription	Fetal Brain Male	brain
34	chr8:67951800-67961400	Weak transcription	Right Ventricle	heart
35	chr8:67952000-67954600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:67952000-67954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:67952000-67954800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:67952000-67961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:67952200-67954800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:67952200-67955400	Weak transcription	Fetal Kidney	kidney
41	chr8:67952200-67956200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:67952200-67956200	Weak transcription	Aorta	Aorta
43	chr8:67952200-67956200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:67952200-67957200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:67952200-67960000	Weak transcription	Pancreas	Pancrea
46	chr8:67952400-67954600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:67952400-67956600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:67952400-67956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:67952600-67955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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