Variant report

Variant	rs72646383
Chromosome Location	chr8:48614698-48614699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10092880	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10095193	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10097508	0.81[AMR][1000 genomes]
rs10107723	0.81[EUR][1000 genomes]
rs10958274	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1487438	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28542855	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28795698	0.84[AMR][1000 genomes]
rs28809491	0.87[AMR][1000 genomes]
rs3614	0.83[EUR][1000 genomes]
rs4873728	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58297550	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992255	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995756	0.81[AMR][1000 genomes]
rs7017622	0.86[AMR][1000 genomes]
rs72646358	0.83[EUR][1000 genomes]
rs72646361	0.87[EUR][1000 genomes]
rs72646363	0.81[EUR][1000 genomes]
rs72646372	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72646401	0.80[AMR][1000 genomes]
rs729228	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812323	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7822320	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828380	0.81[AMR][1000 genomes]
rs7830350	0.87[AMR][1000 genomes]
rs7830633	0.83[AMR][1000 genomes]
rs7830743	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7832898	0.80[AMR][1000 genomes]
rs7839161	0.84[AMR][1000 genomes]
rs7841661	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7843066	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48590600-48625200	Weak transcription	HepG2	liver
2	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
3	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:48597200-48647200	Weak transcription	NHEK	skin
5	chr8:48597200-48647400	Weak transcription	HMEC	breast
6	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
7	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:48602400-48616400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:48603400-48614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:48604200-48615000	Weak transcription	Colonic Mucosa	Colon
12	chr8:48604400-48615000	Weak transcription	Pancreas	Pancrea
13	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
15	chr8:48604600-48614800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:48604600-48615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:48605000-48614800	Weak transcription	Liver	Liver
18	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:48606400-48624400	Weak transcription	Psoas Muscle	Psoas
20	chr8:48606600-48615200	Weak transcription	Right Ventricle	heart
21	chr8:48606600-48624000	Weak transcription	Right Atrium	heart
22	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
23	chr8:48609200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:48609400-48615000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:48609600-48614800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:48610400-48625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:48610600-48614800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:48610600-48614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:48610600-48614800	Weak transcription	Left Ventricle	heart
30	chr8:48610600-48616800	Weak transcription	Esophagus	oesophagus
31	chr8:48610600-48624400	Weak transcription	HSMM	muscle
32	chr8:48610600-48625000	Weak transcription	Fetal Thymus	thymus
33	chr8:48610600-48625400	Weak transcription	Brain Germinal Matrix	brain
34	chr8:48610600-48625400	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:48610600-48625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:48610800-48625400	Weak transcription	NHLF	lung
37	chr8:48611000-48617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:48611000-48625400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:48611200-48617800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:48611400-48614800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:48611400-48616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:48611400-48625200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:48611800-48617400	Weak transcription	HSMMtube	muscle
44	chr8:48611800-48625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:48611800-48632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:48612000-48617600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:48612000-48625800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:48612000-48647400	Weak transcription	NH-A	brain
49	chr8:48612400-48619000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:48612400-48625400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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