Variant report

Variant	rs13250360
Chromosome Location	chr8:95782864-95782865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10090736	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10101523	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11987988	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11988403	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11995317	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12234995	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12547930	0.86[ASN][1000 genomes]
rs12547969	0.81[ASN][1000 genomes]
rs13258377	0.89[ASN][1000 genomes]
rs13259064	0.86[ASN][1000 genomes]
rs13262255	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13269813	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17646077	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17718793	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28750318	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34759911	0.87[ASN][1000 genomes]
rs4644204	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735322	0.89[ASN][1000 genomes]
rs4735324	0.89[ASN][1000 genomes]
rs6471483	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7386109	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7387701	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826057	0.88[ASN][1000 genomes]
rs7840896	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7844431	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
2	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
3	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
4	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:95733400-95783800	Weak transcription	Gastric	stomach
6	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
7	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:95733800-95783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
10	chr8:95734000-95783600	Weak transcription	Fetal Kidney	kidney
11	chr8:95734200-95784600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
13	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:95741200-95783600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:95741200-95783800	Weak transcription	HMEC	breast
16	chr8:95744000-95790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:95752400-95809200	Weak transcription	NHLF	lung
18	chr8:95752600-95784200	Weak transcription	A549	lung
19	chr8:95752600-95793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:95752600-95805600	Weak transcription	NHEK	skin
21	chr8:95753600-95791200	Weak transcription	Primary B cells from cord blood	blood
22	chr8:95757800-95783200	Weak transcription	GM12878-XiMat	blood
23	chr8:95761000-95783800	Weak transcription	HepG2	liver
24	chr8:95761800-95784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:95761800-95785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:95762000-95783800	Weak transcription	Aorta	Aorta
28	chr8:95762200-95793600	Weak transcription	Stomach Mucosa	stomach
29	chr8:95766200-95788400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:95767600-95795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:95770400-95783800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:95771400-95783400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:95772400-95784600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:95772600-95783400	Weak transcription	Right Ventricle	heart
35	chr8:95772800-95783600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:95773600-95783600	Weak transcription	K562	blood
38	chr8:95773600-95783800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
40	chr8:95773800-95802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:95774000-95788000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:95774000-95791200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:95774000-95798000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:95774200-95792000	Strong transcription	Fetal Intestine Large	intestine
45	chr8:95774400-95791800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:95774400-95792000	Strong transcription	Fetal Intestine Small	intestine
47	chr8:95774400-95792000	Strong transcription	Fetal Stomach	stomach
48	chr8:95774400-95792200	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:95774800-95799800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:95774800-95803200	Weak transcription	Fetal Heart	heart

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