Variant report

Variant	rs13265869
Chromosome Location	chr8:131353139-131353140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1123205	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11774947	0.88[EUR][1000 genomes]
rs11775292	0.80[EUR][1000 genomes]
rs13258946	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1340021	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1538728	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17212137	0.84[EUR][1000 genomes]
rs1978550	0.85[EUR][1000 genomes]
rs2894508	0.81[EUR][1000 genomes]
rs4733572	0.88[EUR][1000 genomes]
rs4733780	0.88[EUR][1000 genomes]
rs62525931	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6470815	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7018225	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7832651	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
3	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
4	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
8	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
11	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
13	chr8:131346400-131353400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:131347400-131353800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
19	chr8:131348000-131353200	Weak transcription	Fetal Stomach	stomach
20	chr8:131348000-131354400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:131348000-131354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
23	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:131348200-131354400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:131348600-131353200	Weak transcription	K562	blood
26	chr8:131348600-131354200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:131348600-131357000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:131348600-131358800	Weak transcription	Gastric	stomach
30	chr8:131348800-131354400	Weak transcription	Brain Angular Gyrus	brain
31	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:131349000-131353600	Weak transcription	Liver	Liver
33	chr8:131349000-131356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:131349000-131356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:131349200-131354600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:131349400-131353200	Weak transcription	Psoas Muscle	Psoas
38	chr8:131349600-131353400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:131349600-131354600	Strong transcription	NHEK	skin
40	chr8:131350000-131353600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:131350000-131355600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:131350000-131355800	Strong transcription	A549	lung
43	chr8:131350200-131353800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:131350200-131354000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:131350200-131354600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:131350400-131353200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:131350400-131354600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:131350400-131355600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:131350400-131356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:131350600-131354600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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