Variant report

Variant	rs13257372
Chromosome Location	chr8:108434920-108434921
allele	C/G
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	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991529	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12678509	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13255500	0.90[ASN][1000 genomes]
rs13263947	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264356	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13265214	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13268748	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13272688	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13276416	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13280030	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13281824	0.90[ASN][1000 genomes]
rs34145387	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34562665	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34612085	0.90[ASN][1000 genomes]
rs6991687	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs71524708	0.91[ASN][1000 genomes]
rs71562145	0.93[ASN][1000 genomes]
rs9650030	0.95[AMR][1000 genomes];1.00[EUR][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:35 , 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	chr8:108430600-108436000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:108432800-108437000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:108433200-108435800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:108433800-108435800	Enhancers	Fetal Kidney	kidney
7	chr8:108433800-108436000	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:108433800-108440400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:108433800-108440400	Weak transcription	NHLF	lung
10	chr8:108434000-108435000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:108434000-108435600	Weak transcription	Ovary	ovary
12	chr8:108434000-108436000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:108434000-108437800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:108434000-108437800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:108434000-108438000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:108434000-108438200	Weak transcription	Right Atrium	heart
17	chr8:108434000-108440400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:108434200-108436000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:108434200-108436000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:108434200-108437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:108434200-108437800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:108434200-108441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:108434400-108435800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:108434400-108438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:108434400-108438400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:108434600-108435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:108434600-108435600	Weak transcription	Pancreas	Pancrea
29	chr8:108434600-108436800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:108434600-108438000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:108434600-108438000	Weak transcription	Osteobl	bone
32	chr8:108434600-108438200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:108434600-108440200	Weak transcription	NHDF-Ad	bronchial
34	chr8:108434800-108437800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:108434800-108438200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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