Variant report

Variant	rs12545964
Chromosome Location	chr8:117656489-117656490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117646178..117650015-chr8:117654709..117657673,3	K562	blood:
2	chr8:117655980..117658545-chr8:117680933..117683452,2	K562	blood:
3	chr8:117646435..117648645-chr8:117656043..117658765,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10505283	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10505285	0.80[AFR][1000 genomes]
rs12541272	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12541592	0.95[ASN][1000 genomes]
rs12547063	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12548564	0.81[ASN][1000 genomes]
rs12548586	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1343663	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16888614	0.96[AFR][1000 genomes]
rs16888615	0.94[AFR][1000 genomes]
rs16888619	0.95[AFR][1000 genomes]
rs16888625	0.95[AFR][1000 genomes]
rs16888629	0.90[AFR][1000 genomes]
rs16888632	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16888650	0.84[AFR][1000 genomes]
rs16888683	0.80[AFR][1000 genomes]
rs2366	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59843956	0.97[AFR][1000 genomes]
rs73322481	0.95[AFR][1000 genomes]
rs73324025	0.86[AFR][1000 genomes]
rs7833306	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844973	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117637400-117656600	Weak transcription	Aorta	Aorta
3	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
4	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
5	chr8:117642400-117656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:117644000-117656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:117644000-117657600	Weak transcription	NHEK	skin
8	chr8:117646600-117656600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:117647200-117677800	Weak transcription	Gastric	stomach
10	chr8:117647600-117658400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
12	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:117650400-117658000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:117650400-117665600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:117650400-117666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:117650600-117658000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:117650600-117662000	Weak transcription	Brain Substantia Nigra	brain
19	chr8:117650600-117662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:117651000-117656600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:117651200-117656800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:117651200-117657600	Weak transcription	NHDF-Ad	bronchial
23	chr8:117651200-117658200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:117651400-117657400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:117651400-117670400	Weak transcription	Psoas Muscle	Psoas
27	chr8:117652400-117657000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:117652400-117669200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:117652600-117656600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:117652600-117656600	Weak transcription	Ovary	ovary
31	chr8:117652600-117656800	Weak transcription	HUVEC	blood vessel
32	chr8:117652600-117660200	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:117652600-117662200	Weak transcription	Spleen	Spleen
34	chr8:117652800-117670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:117653000-117657200	Weak transcription	K562	blood
36	chr8:117653800-117656600	Weak transcription	HepG2	liver
37	chr8:117653800-117656800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:117653800-117656800	Weak transcription	HSMMtube	muscle
39	chr8:117653800-117657600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:117653800-117662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:117654000-117657200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:117654000-117657600	Weak transcription	Fetal Kidney	kidney
43	chr8:117654000-117659000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:117654000-117665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
46	chr8:117654200-117656600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:117654200-117656600	Weak transcription	Thymus	Thymus
48	chr8:117654200-117656800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:117654400-117656800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:117654400-117656800	Weak transcription	NH-A	brain

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