Variant report

Variant	rs11630020
Chromosome Location	chr15:55845034-55845035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1051506	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11634048	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11634055	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11634657	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11634919	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11635072	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11635978	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637574	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11637694	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638846	0.86[EUR][1000 genomes]
rs11639329	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11639446	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11854594	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11858599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11858624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414420	0.86[AFR][1000 genomes]
rs34694682	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62020018	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020019	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020020	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020021	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020022	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020023	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020034	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020035	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020037	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62020044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62020047	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62020057	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62020058	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62021860	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62021861	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62021862	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62021863	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62021865	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62021866	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62021867	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62021868	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62021869	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62021870	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62021872	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62021873	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62021874	0.94[EUR][1000 genomes]
rs62021876	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62021877	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62021878	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62021879	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62021880	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7181070	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7182121	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
5	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv833016	chr15:55749169-55897906	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55831200-55846800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:55836000-55846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:55836200-55845200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:55838600-55845200	Weak transcription	Pancreas	Pancrea
5	chr15:55838600-55852800	Weak transcription	Aorta	Aorta
6	chr15:55840800-55845200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:55844200-55845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:55844200-55845800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:55844600-55845200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:55844600-55845400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:55844600-55845600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:55844600-55845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:55844600-55846000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:55844600-55846200	ZNF genes & repeats	Fetal Stomach	stomach
15	chr15:55844800-55845200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:55844800-55845200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:55844800-55845200	Enhancers	Ovary	ovary
18	chr15:55844800-55845200	Flanking Active TSS	HSMMtube	muscle
19	chr15:55844800-55845200	Enhancers	NHDF-Ad	bronchial
20	chr15:55844800-55845400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:55844800-55845400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:55844800-55845400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:55844800-55845400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr15:55844800-55845400	Enhancers	Left Ventricle	heart
25	chr15:55844800-55845400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:55844800-55845400	Enhancers	Stomach Smooth Muscle	stomach
27	chr15:55844800-55845600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr15:55844800-55845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr15:55844800-55845600	ZNF genes & repeats	Fetal Brain Female	brain
30	chr15:55844800-55845600	Enhancers	Fetal Muscle Leg	muscle
31	chr15:55844800-55845600	Enhancers	NHLF	lung
32	chr15:55844800-55845800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:55844800-55845800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:55844800-55846000	Enhancers	Osteobl	bone
35	chr15:55844800-55846200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:55845000-55845400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:55845000-55845400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:55845000-55845400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:55845000-55845400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr15:55845000-55845400	Enhancers	NH-A	brain
41	chr15:55845000-55845600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:55845000-55845600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:55845000-55845600	Enhancers	Fetal Lung	lung
44	chr15:55845000-55845600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:55845000-55845800	Strong transcription	A549	lung
46	chr15:55845000-55845800	Flanking Active TSS	HSMM	muscle
47	chr15:55845000-55846200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:55845000-55846200	Enhancers	HepG2	liver
49	chr15:55845000-55847000	Weak transcription	Fetal Brain Male	brain

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