Variant report

Variant	rs34612085
Chromosome Location	chr8:108452039-108452040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11984986	0.89[ASN][1000 genomes]
rs11991529	0.97[ASN][1000 genomes]
rs12678509	0.90[ASN][1000 genomes]
rs13255500	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257372	0.90[ASN][1000 genomes]
rs13263947	0.92[ASN][1000 genomes]
rs13264356	0.92[ASN][1000 genomes]
rs13265214	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268748	0.87[ASN][1000 genomes]
rs13272688	0.90[ASN][1000 genomes]
rs13276416	0.92[ASN][1000 genomes]
rs13280030	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281824	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34145387	0.89[ASN][1000 genomes]
rs34562665	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991687	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71524708	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71562145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650030	1.00[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108441800-108455400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:108447200-108455400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:108448800-108456200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:108449000-108456600	Weak transcription	Adipose Nuclei	Adipose
5	chr8:108449600-108456200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:108450400-108457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:108450400-108469600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:108450400-108469800	Weak transcription	Psoas Muscle	Psoas
9	chr8:108451200-108453600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:108451400-108452400	Enhancers	Fetal Kidney	kidney
11	chr8:108451400-108452400	Enhancers	Fetal Lung	lung
12	chr8:108451400-108452600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:108451400-108452600	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:108451400-108452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:108451400-108452800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:108451400-108452800	Enhancers	NHDF-Ad	bronchial
17	chr8:108451400-108453600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:108451400-108453600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:108451400-108453600	Enhancers	Colon Smooth Muscle	Colon
20	chr8:108451400-108453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:108451600-108452400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:108451600-108452400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:108451600-108452400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:108451600-108452400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:108451600-108452600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:108451600-108452600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:108451600-108452600	Enhancers	NHLF	lung
28	chr8:108451600-108453200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:108451600-108453200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:108451800-108452200	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:108451800-108452400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:108451800-108452400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:108451800-108452400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:108451800-108452400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:108451800-108452400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:108451800-108452400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:108451800-108452600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:108451800-108452800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:108452000-108452200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:108452000-108452200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:108452000-108452400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:108452000-108452400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:108452000-108452400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:108452000-108452400	Enhancers	Aorta	Aorta
45	chr8:108452000-108452400	Enhancers	Ovary	ovary
46	chr8:108452000-108452800	Enhancers	Osteobl	bone

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