Variant report

Variant	rs7519476
Chromosome Location	chr1:78010650-78010651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1013399	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782654	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873949	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873950	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10873951	0.85[ASN][1000 genomes]
rs11162362	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162363	0.88[EUR][1000 genomes]
rs11162364	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162365	0.93[ASN][1000 genomes]
rs11162369	0.86[ASN][1000 genomes]
rs11162372	0.84[ASN][1000 genomes]
rs12071212	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12074409	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12095064	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12717767	0.93[ASN][1000 genomes]
rs12724560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565850	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1565851	0.98[ASN][1000 genomes]
rs1565852	0.89[ASN][1000 genomes]
rs1962523	0.92[ASN][1000 genomes]
rs1976334	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029768	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133202	0.87[ASN][1000 genomes]
rs2172727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647486	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647487	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278854	0.81[ASN][1000 genomes]
rs278862	0.81[ASN][1000 genomes]
rs2803136	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2803168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34773766	0.92[ASN][1000 genomes]
rs3509	0.97[ASN][1000 genomes]
rs371076	0.81[ASN][1000 genomes]
rs3738079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767032	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767033	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4245658	0.98[ASN][1000 genomes]
rs4589153	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4600093	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949657	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4949658	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949659	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4949807	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949808	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949809	0.98[ASN][1000 genomes]
rs4949811	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4949813	0.94[ASN][1000 genomes]
rs4949816	0.89[ASN][1000 genomes]
rs6603953	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6603955	0.93[ASN][1000 genomes]
rs6667519	0.98[ASN][1000 genomes]
rs6667803	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675743	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6692369	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695989	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696083	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728741	0.94[ASN][1000 genomes]
rs7513619	0.85[ASN][1000 genomes]
rs7524147	0.97[ASN][1000 genomes]
rs7524866	0.98[ASN][1000 genomes]
rs7531286	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545544	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551211	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551729	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs962388	0.94[ASN][1000 genomes]
rs9787153	0.81[EUR][1000 genomes];0.97[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:78000000-78011600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:78000000-78030600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:78000000-78031200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:78004800-78010800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:78005600-78014000	Weak transcription	Right Ventricle	heart
7	chr1:78005600-78034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:78005800-78010800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:78005800-78011000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:78005800-78014000	Weak transcription	Right Atrium	heart
11	chr1:78005800-78026200	Weak transcription	Left Ventricle	heart
12	chr1:78005800-78032400	Weak transcription	Psoas Muscle	Psoas
13	chr1:78006000-78011400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:78006000-78013600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:78006000-78014000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:78006000-78022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:78006000-78026200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:78006000-78031000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:78006200-78011400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:78006200-78024400	Weak transcription	HSMMtube	muscle
21	chr1:78006200-78027200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
23	chr1:78006400-78011200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:78006400-78011400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:78006400-78011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:78007200-78011400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:78007800-78028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:78008000-78011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:78008000-78011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:78009000-78010800	Weak transcription	Osteobl	bone
31	chr1:78009000-78011400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:78009000-78011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:78009000-78011600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:78009000-78011600	Weak transcription	HSMM	muscle
35	chr1:78009000-78014200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:78009000-78023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:78009400-78011600	Genic enhancers	NHDF-Ad	bronchial
38	chr1:78009800-78010800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:78009800-78011200	Weak transcription	NHLF	lung
40	chr1:78009800-78012600	Strong transcription	Primary T cells from cord blood	blood
41	chr1:78010000-78010800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:78010000-78011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:78010000-78027400	Weak transcription	A549	lung
44	chr1:78010200-78011000	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:78010400-78010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:78010400-78010800	Weak transcription	NH-A	brain
47	chr1:78010400-78011000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:78010400-78011000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:78010400-78012600	Enhancers	Fetal Heart	heart
50	chr1:78010600-78011000	Enhancers	Brain Hippocampus Middle	brain

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