Variant report

Variant	rs12678509
Chromosome Location	chr8:108433882-108433883
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11991529	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12677137	0.93[EUR][1000 genomes]
rs13250584	0.81[EUR][1000 genomes]
rs13255500	0.89[ASN][1000 genomes]
rs13257372	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13263947	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13264356	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13265214	0.90[ASN][1000 genomes]
rs13268748	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13272688	0.80[ASN][1000 genomes]
rs13276416	0.82[ASN][1000 genomes]
rs13280030	0.90[ASN][1000 genomes]
rs13281824	0.90[ASN][1000 genomes]
rs1433194	0.81[EUR][1000 genomes]
rs16876199	0.81[EUR][1000 genomes]
rs16876200	0.81[EUR][1000 genomes]
rs1821305	0.81[EUR][1000 genomes]
rs34562665	0.90[ASN][1000 genomes]
rs34612085	0.90[ASN][1000 genomes]
rs60569707	0.81[EUR][1000 genomes]
rs6991687	0.97[ASN][1000 genomes]
rs71524708	0.90[ASN][1000 genomes]
rs71562145	0.92[ASN][1000 genomes]
rs930234	0.81[EUR][1000 genomes]
rs930235	0.81[EUR][1000 genomes]
rs9650030	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108420200-108441400	Weak transcription	Aorta	Aorta
2	chr8:108421800-108448200	Weak transcription	Psoas Muscle	Psoas
3	chr8:108428400-108434000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:108430600-108436000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:108431600-108434400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:108431600-108434400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:108432600-108434400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:108432800-108437000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:108433000-108434200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:108433200-108434000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:108433200-108434000	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:108433200-108434200	Enhancers	HSMM	muscle
13	chr8:108433200-108435800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:108433400-108434000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:108433400-108434000	Flanking Active TSS	HUVEC	blood vessel
16	chr8:108433400-108434200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:108433400-108434200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:108433400-108434600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:108433400-108434600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:108433400-108434600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:108433600-108434000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:108433600-108434000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:108433600-108434000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:108433600-108434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:108433600-108434000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:108433600-108434000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:108433600-108434000	Active TSS	Brain Anterior Caudate	brain
28	chr8:108433600-108434000	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:108433600-108434000	Enhancers	Colon Smooth Muscle	Colon
30	chr8:108433600-108434000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:108433600-108434000	Active TSS	Ovary	ovary
32	chr8:108433600-108434000	Flanking Active TSS	A549	lung
33	chr8:108433600-108434000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr8:108433600-108434000	Flanking Active TSS	Osteobl	bone
35	chr8:108433600-108434200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:108433600-108434200	Enhancers	Fetal Lung	lung
37	chr8:108433600-108434400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:108433600-108434800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:108433800-108434000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:108433800-108434000	Enhancers	Right Atrium	heart
41	chr8:108433800-108434400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:108433800-108435800	Enhancers	Fetal Kidney	kidney
43	chr8:108433800-108436000	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:108433800-108440400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:108433800-108440400	Weak transcription	NHLF	lung

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