Variant report

Variant	rs62045207
Chromosome Location	chr15:56245803-56245804
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17819282	0.83[EUR][1000 genomes]
rs17819300	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2136386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2175104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55858643	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55908996	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55999037	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56109562	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56339902	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62043810	0.83[EUR][1000 genomes]
rs62043815	0.83[EUR][1000 genomes]
rs62043816	0.83[EUR][1000 genomes]
rs62043847	0.85[EUR][1000 genomes]
rs62043854	0.88[EUR][1000 genomes]
rs62043858	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62045161	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62045162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62045163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62045164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62045205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045211	1.00[ASN][1000 genomes]
rs62045219	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62045225	0.91[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	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56209600-56247400	Weak transcription	Psoas Muscle	Psoas
2	chr15:56229400-56259000	Weak transcription	Ovary	ovary
3	chr15:56229400-56259400	Weak transcription	Small Intestine	intestine
4	chr15:56229600-56251600	Weak transcription	K562	blood
5	chr15:56229600-56282600	Weak transcription	NHLF	lung
6	chr15:56229800-56259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:56231400-56284200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:56231600-56260000	Weak transcription	Left Ventricle	heart
9	chr15:56232200-56251600	Weak transcription	HSMMtube	muscle
10	chr15:56232600-56257200	Weak transcription	Primary T cells from cord blood	blood
11	chr15:56235800-56253600	Weak transcription	Fetal Lung	lung
12	chr15:56236000-56246000	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:56236000-56258200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:56236000-56259000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:56236000-56261200	Weak transcription	Esophagus	oesophagus
16	chr15:56236200-56257000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:56236200-56257000	Weak transcription	Aorta	Aorta
18	chr15:56236200-56276000	Weak transcription	HUVEC	blood vessel
19	chr15:56236600-56257000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:56236800-56247200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:56236800-56251600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:56236800-56257000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:56236800-56282800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:56237000-56251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:56238200-56257000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:56240000-56247200	Weak transcription	Gastric	stomach
27	chr15:56241000-56261400	Weak transcription	Pancreas	Pancrea
28	chr15:56241800-56247200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:56242800-56255600	Weak transcription	Hela-S3	cervix
30	chr15:56243000-56247200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:56243000-56257000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:56243200-56248000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:56243200-56250400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:56243200-56251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:56243200-56253200	Weak transcription	NHEK	skin
36	chr15:56243200-56253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:56243200-56255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:56243200-56256400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:56243200-56256400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:56243200-56276200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:56243400-56253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:56243400-56253000	Weak transcription	HMEC	breast
43	chr15:56243400-56253200	Weak transcription	HSMM	muscle
44	chr15:56243400-56257000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:56244000-56248800	Enhancers	HepG2	liver
46	chr15:56244600-56257800	Weak transcription	Fetal Brain Male	brain
47	chr15:56245000-56246200	Enhancers	Fetal Intestine Large	intestine
48	chr15:56245000-56247000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:56245000-56247800	Enhancers	Fetal Intestine Small	intestine
50	chr15:56245200-56247200	Weak transcription	Liver	Liver

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