Variant report

Variant	rs4507756
Chromosome Location	chr8:62413220-62413221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62411280..62413596-chr8:62416283..62419042,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10504327	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10504328	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10504329	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10504330	0.81[EUR][1000 genomes]
rs16927446	0.81[EUR][1000 genomes]
rs16927448	0.81[EUR][1000 genomes]
rs17200413	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17200553	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17200623	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17201182	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17201219	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17788825	0.86[AMR][1000 genomes]
rs17788873	0.86[AMR][1000 genomes]
rs17789341	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17790020	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17790471	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17790639	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2610520	0.91[ASN][1000 genomes]
rs2640232	0.91[ASN][1000 genomes]
rs2640237	0.91[ASN][1000 genomes]
rs59333700	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73263176	0.87[EUR][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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62406200-62415400	Weak transcription	Esophagus	oesophagus
2	chr8:62408600-62427800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
4	chr8:62408800-62427600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:62409000-62415600	Weak transcription	Aorta	Aorta
7	chr8:62409000-62427800	Weak transcription	HMEC	breast
8	chr8:62409200-62415400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:62409200-62426000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:62409400-62421200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:62410400-62415600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:62410400-62417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:62410600-62420400	Weak transcription	Gastric	stomach
14	chr8:62410800-62414800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:62410800-62414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:62410800-62415000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:62410800-62415600	Weak transcription	Liver	Liver
18	chr8:62411000-62414800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:62411200-62417600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:62411400-62414000	Weak transcription	Osteobl	bone
23	chr8:62411400-62414600	Weak transcription	NHLF	lung
24	chr8:62411400-62415800	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:62411400-62415800	Weak transcription	Hela-S3	cervix
26	chr8:62411400-62422200	Weak transcription	Spleen	Spleen
27	chr8:62411600-62415200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:62412000-62418800	Strong transcription	NHDF-Ad	bronchial
30	chr8:62412000-62426000	Strong transcription	Adipose Nuclei	Adipose
31	chr8:62412000-62455600	Strong transcription	A549	lung
32	chr8:62412200-62413800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:62412200-62415400	Weak transcription	Left Ventricle	heart
34	chr8:62412200-62420400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:62412200-62420400	Weak transcription	Lung	lung
36	chr8:62412400-62416400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr8:62412400-62428000	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:62412600-62417000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:62412600-62418200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:62412600-62419200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:62412600-62425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:62412600-62428200	Weak transcription	HepG2	liver
43	chr8:62412800-62414400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:62412800-62415000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:62412800-62417800	Strong transcription	HSMM	muscle
46	chr8:62412800-62419600	Strong transcription	NH-A	brain
47	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:62413000-62415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:62413000-62415600	Weak transcription	Fetal Brain Female	brain
50	chr8:62413200-62414200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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