Variant report

Variant	rs72836648
Chromosome Location	chr17:38393763-38393764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11078939	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078940	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12103921	0.81[ASN][1000 genomes]
rs12944717	0.87[ASN][1000 genomes]
rs13706	0.89[EUR][1000 genomes]
rs16965687	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807273	0.89[EUR][1000 genomes]
rs2280400	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28537537	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663197	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34223321	0.82[ASN][1000 genomes]
rs3744806	0.82[ASN][1000 genomes]
rs4077125	0.92[ASN][1000 genomes]
rs45567834	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4566234	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55656553	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55767073	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55772196	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55835834	0.94[ASN][1000 genomes]
rs55991953	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56013073	0.82[ASN][1000 genomes]
rs56029626	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58822685	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59018914	0.92[ASN][1000 genomes]
rs59490243	0.92[ASN][1000 genomes]
rs59861136	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60220138	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61024420	0.86[ASN][1000 genomes]
rs6503539	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67597966	0.88[ASN][1000 genomes]
rs72836633	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72836634	0.88[ASN][1000 genomes]
rs72836635	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72836636	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836639	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836640	0.93[ASN][1000 genomes]
rs72836641	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72836642	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72836651	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836653	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836656	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836660	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7359537	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73983025	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8073925	0.84[ASN][1000 genomes]
rs8078204	0.91[ASN][1000 genomes]
rs8078226	0.92[ASN][1000 genomes]
rs8080931	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8082192	0.82[ASN][1000 genomes]
rs9891694	0.92[ASN][1000 genomes]
rs9891718	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9892404	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9892946	0.92[ASN][1000 genomes]
rs9892973	0.82[ASN][1000 genomes]
rs9893520	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9894625	0.87[EUR][1000 genomes]
rs9895163	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9897092	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9901109	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9904021	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9904270	0.83[EUR][1000 genomes]
rs9906409	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907683	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9908034	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9908257	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9908354	0.84[ASN][1000 genomes]
rs9910197	0.92[ASN][1000 genomes]
rs9910788	0.86[ASN][1000 genomes]
rs9911840	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912082	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9914531	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9916460	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9916782	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv522863	chr17:38388040-38405037	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv525961	chr17:38388040-38405037	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38400400	Weak transcription	Psoas Muscle	Psoas
2	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
4	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:38377200-38404800	Weak transcription	HSMMtube	muscle
6	chr17:38377400-38408000	Weak transcription	Small Intestine	intestine
7	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:38377800-38400400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
10	chr17:38381200-38412400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38381400-38399000	Weak transcription	NHLF	lung
12	chr17:38381400-38407000	Weak transcription	Hela-S3	cervix
13	chr17:38381400-38407400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:38381400-38407400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:38381400-38407400	Weak transcription	Osteobl	bone
16	chr17:38381600-38397600	Weak transcription	Brain Substantia Nigra	brain
17	chr17:38381800-38407600	Weak transcription	K562	blood
18	chr17:38381800-38408000	Weak transcription	Right Ventricle	heart
19	chr17:38382000-38397400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:38382000-38397600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:38382000-38399200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:38382000-38407600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:38382000-38412400	Weak transcription	Fetal Lung	lung
24	chr17:38382800-38399400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:38385400-38407600	Weak transcription	NHEK	skin
26	chr17:38386000-38407800	Weak transcription	Adipose Nuclei	Adipose
27	chr17:38387400-38397400	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:38387600-38396600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:38387600-38397600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:38387600-38400200	Weak transcription	Colon Smooth Muscle	Colon
31	chr17:38387800-38393800	Strong transcription	Fetal Stomach	stomach
32	chr17:38387800-38394000	Strong transcription	Fetal Intestine Small	intestine
33	chr17:38388400-38394600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:38388600-38393800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr17:38388600-38394000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:38388600-38394000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:38388600-38398000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:38389000-38393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:38389200-38393800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr17:38389200-38394000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr17:38389800-38397200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:38389800-38407600	Weak transcription	NH-A	brain
43	chr17:38390000-38399200	Weak transcription	Fetal Kidney	kidney
44	chr17:38390200-38397800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:38390200-38397800	Weak transcription	Brain Angular Gyrus	brain
46	chr17:38390200-38412200	Weak transcription	HepG2	liver
47	chr17:38390200-38413000	Weak transcription	Colonic Mucosa	Colon
48	chr17:38390400-38394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:38390400-38407400	Weak transcription	HUVEC	blood vessel
50	chr17:38390800-38416600	Weak transcription	Gastric	stomach

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