Variant report

Variant	rs6989512
Chromosome Location	chr8:58915371-58915372
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10089259	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1106314	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1108188	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11780747	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11997733	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28550347	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61126058	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67784763	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68143639	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7006812	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72621433	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813490	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828423	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832353	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842966	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7845456	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58908200-58919600	Weak transcription	Gastric	stomach
2	chr8:58908400-58916800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:58908400-58919400	Weak transcription	Placenta	Placenta
4	chr8:58908400-58919400	Weak transcription	Pancreas	Pancrea
5	chr8:58908400-58919600	Weak transcription	Lung	lung
6	chr8:58908400-58920000	Weak transcription	Spleen	Spleen
7	chr8:58908400-58926400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:58908400-58928800	Weak transcription	Esophagus	oesophagus
9	chr8:58908400-58929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:58908600-58915400	Weak transcription	Ovary	ovary
11	chr8:58908600-58915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:58908600-58942800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:58908800-58929200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:58909200-58917200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:58909200-58919600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:58909400-58916000	Weak transcription	Left Ventricle	heart
17	chr8:58909400-58920000	Weak transcription	Stomach Mucosa	stomach
18	chr8:58909400-58928800	Weak transcription	Fetal Intestine Large	intestine
19	chr8:58909400-58943000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:58909600-58915800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:58909800-58915400	Weak transcription	Fetal Kidney	kidney
22	chr8:58909800-58919800	Weak transcription	Right Ventricle	heart
23	chr8:58909800-58921600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:58910000-58915800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:58910000-58919200	Weak transcription	Aorta	Aorta
26	chr8:58910200-58915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:58910200-58915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:58910400-58916000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:58910600-58915400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:58910600-58915600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:58910600-58916000	Weak transcription	NHLF	lung
32	chr8:58910800-58915800	Weak transcription	Osteobl	bone
33	chr8:58910800-58916000	Weak transcription	Brain Anterior Caudate	brain
34	chr8:58911000-58915800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:58911400-58915800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:58912000-58915800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:58913400-58929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:58913800-58917000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:58914000-58915800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:58914200-58915800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:58914200-58916200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:58914200-58916600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:58914200-58929000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:58914400-58915800	Strong transcription	Liver	Liver
45	chr8:58914400-58917000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr8:58914400-58917600	ZNF genes & repeats	Fetal Lung	lung
47	chr8:58914400-58918200	ZNF genes & repeats	Fetal Brain Male	brain
48	chr8:58914600-58915800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:58914600-58917000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr8:58914600-58917000	Strong transcription	Adipose Nuclei	Adipose

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