Variant report

Variant	rs12545265
Chromosome Location	chr8:125670045-125670046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10086001	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12545201	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12545287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547626	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16893079	1.00[ASW][hapmap]
rs16899898	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16899935	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs934323	1.00[ASW][hapmap]

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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
3	chr8:125663800-125672200	Weak transcription	Fetal Stomach	stomach
4	chr8:125664200-125672200	Weak transcription	HSMMtube	muscle
5	chr8:125666200-125670200	Enhancers	HMEC	breast
6	chr8:125666200-125670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125666200-125674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:125666400-125670200	Enhancers	NHEK	skin
9	chr8:125667000-125670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:125667200-125674400	Enhancers	HepG2	liver
11	chr8:125667600-125671800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:125667600-125672800	Weak transcription	Small Intestine	intestine
13	chr8:125667800-125671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:125667800-125672000	Weak transcription	Colonic Mucosa	Colon
15	chr8:125667800-125672200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:125667800-125672600	Weak transcription	Gastric	stomach
17	chr8:125667800-125672600	Weak transcription	Pancreas	Pancrea
18	chr8:125668000-125670400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:125668000-125671600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:125668000-125671800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:125668200-125671800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:125668200-125671800	Weak transcription	Left Ventricle	heart
23	chr8:125668200-125671800	Weak transcription	Spleen	Spleen
24	chr8:125668200-125672000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:125668200-125672000	Weak transcription	Brain Angular Gyrus	brain
26	chr8:125668200-125672000	Weak transcription	Thymus	Thymus
27	chr8:125668200-125672200	Weak transcription	Esophagus	oesophagus
28	chr8:125668200-125672400	Weak transcription	Right Ventricle	heart
29	chr8:125668400-125671800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:125668600-125670800	Weak transcription	Brain Germinal Matrix	brain
31	chr8:125668600-125671600	Weak transcription	Primary T cells from cord blood	blood
32	chr8:125668600-125671600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:125668600-125671600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:125668600-125671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:125668600-125671800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:125668600-125671800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:125668600-125671800	Weak transcription	Fetal Heart	heart
38	chr8:125668600-125671800	Weak transcription	Right Atrium	heart
39	chr8:125668600-125671800	Weak transcription	Stomach Mucosa	stomach
40	chr8:125668600-125672000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:125668600-125672000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:125668600-125672200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:125668600-125672200	Weak transcription	Fetal Intestine Large	intestine
44	chr8:125668600-125674800	Weak transcription	Liver	Liver
45	chr8:125668800-125671000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:125668800-125671600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:125668800-125671800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:125668800-125671800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:125668800-125671800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:125669000-125670200	Weak transcription	Fetal Intestine Small	intestine

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