Variant report

Variant	rs62046649
Chromosome Location	chr15:56137461-56137462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11550869	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12898553	0.87[ASN][1000 genomes]
rs17238461	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17238482	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17238489	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17819282	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17819300	0.85[ASN][1000 genomes]
rs34555597	0.89[ASN][1000 genomes]
rs55782406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043760	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62043761	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62043763	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043764	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043792	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62043793	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62043796	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62043801	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62043802	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62043810	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043815	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043816	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62043847	0.85[ASN][1000 genomes]
rs62043854	0.85[ASN][1000 genomes]
rs62046605	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046606	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046643	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046644	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046645	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62046648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56115400-56148000	Weak transcription	Ovary	ovary
2	chr15:56116600-56150600	Weak transcription	Right Ventricle	heart
3	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
4	chr15:56118600-56151000	Weak transcription	Fetal Kidney	kidney
5	chr15:56118800-56147000	Weak transcription	Gastric	stomach
6	chr15:56118800-56149200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:56118800-56151400	Weak transcription	Brain Anterior Caudate	brain
8	chr15:56120000-56144800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:56120000-56147800	Weak transcription	HepG2	liver
10	chr15:56120600-56146600	Weak transcription	Pancreas	Pancrea
11	chr15:56120800-56147200	Weak transcription	Thymus	Thymus
12	chr15:56121200-56147200	Weak transcription	Spleen	Spleen
13	chr15:56122400-56145200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:56122600-56152000	Weak transcription	Fetal Thymus	thymus
15	chr15:56122600-56153800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:56122600-56154800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:56122600-56156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:56122800-56141600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:56122800-56147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:56122800-56147600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:56122800-56156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:56123000-56140200	Weak transcription	Dnd41	blood
23	chr15:56123200-56137600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:56126600-56137600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:56127200-56155400	Strong transcription	Osteobl	bone
26	chr15:56127200-56155800	Strong transcription	HSMM	muscle
27	chr15:56129000-56157400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:56129600-56147400	Weak transcription	Esophagus	oesophagus
29	chr15:56129800-56146600	Weak transcription	NHLF	lung
30	chr15:56130000-56137800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:56130600-56140200	Strong transcription	A549	lung
32	chr15:56131200-56138200	Weak transcription	Fetal Brain Male	brain
33	chr15:56131800-56138600	Weak transcription	NHDF-Ad	bronchial
34	chr15:56132000-56164800	Weak transcription	Small Intestine	intestine
35	chr15:56132800-56141000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:56133000-56137600	Strong transcription	HSMMtube	muscle
37	chr15:56133000-56142600	Weak transcription	Hela-S3	cervix
38	chr15:56133000-56152600	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:56133600-56140000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:56133600-56154400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr15:56134200-56150600	Weak transcription	Left Ventricle	heart
42	chr15:56134400-56140200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:56134400-56147400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:56134400-56150000	Weak transcription	Psoas Muscle	Psoas
45	chr15:56134400-56156600	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:56134600-56140000	Weak transcription	HMEC	breast
47	chr15:56134600-56140200	Weak transcription	Adipose Nuclei	Adipose
48	chr15:56134800-56140000	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:56134800-56140200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:56134800-56140200	Weak transcription	Placenta Amnion	Placenta Amnion

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