Variant report

Variant	rs715300
Chromosome Location	chr1:221290755-221290756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10746405	0.81[ASN][1000 genomes]
rs10863578	0.83[ASN][1000 genomes]
rs11118641	0.93[ASN][1000 genomes]
rs11118648	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11118652	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118653	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118662	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118663	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11118664	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12120171	0.86[EUR][1000 genomes]
rs12121213	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12122167	0.89[EUR][1000 genomes]
rs12123182	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12124230	0.86[EUR][1000 genomes]
rs12127195	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12128432	0.86[EUR][1000 genomes]
rs12140672	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1341619	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1539140	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1596173	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009346	0.93[ASN][1000 genomes]
rs17009398	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009529	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17009536	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1935157	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2039956	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3920857	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4142348	0.84[ASN][1000 genomes]
rs4142351	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4391670	0.81[ASN][1000 genomes]
rs4420085	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4427411	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4625285	0.83[ASN][1000 genomes]
rs4846682	0.81[ASN][1000 genomes]
rs4846684	0.82[ASN][1000 genomes]
rs4846685	0.82[ASN][1000 genomes]
rs55966903	0.93[ASN][1000 genomes]
rs57489853	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58513421	0.93[ASN][1000 genomes]
rs59098418	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61819242	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6670400	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6687526	0.82[ASN][1000 genomes]
rs6687905	0.81[ASN][1000 genomes]
rs6693821	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6698945	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67635817	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72742507	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7354867	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7511784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512831	0.93[ASN][1000 genomes]
rs7515181	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7517729	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7522861	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7523927	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7526270	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539794	0.86[EUR][1000 genomes]
rs7542237	0.81[ASN][1000 genomes]
rs7544056	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7554672	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9431057	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9431425	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9431431	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221289400-221291200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:221289400-221291400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:221289400-221291600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:221289400-221292000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221289400-221292800	Enhancers	Adipose Nuclei	Adipose
6	chr1:221289400-221293400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:221289600-221290800	Weak transcription	Fetal Lung	lung
8	chr1:221289600-221292800	Enhancers	Liver	Liver
9	chr1:221289800-221291000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:221289800-221291000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:221289800-221291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:221289800-221292200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:221290000-221297400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:221290200-221291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:221290200-221292200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:221290400-221291000	Enhancers	HSMMtube	muscle
17	chr1:221290400-221291200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:221290400-221291200	Enhancers	Left Ventricle	heart
19	chr1:221290400-221291200	Enhancers	HMEC	breast
20	chr1:221290400-221291800	Enhancers	NH-A	brain
21	chr1:221290400-221292200	Flanking Active TSS	A549	lung
22	chr1:221290400-221292400	Enhancers	NHDF-Ad	bronchial
23	chr1:221290400-221292600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:221290400-221292600	Enhancers	Psoas Muscle	Psoas
25	chr1:221290400-221292600	Enhancers	HSMM	muscle
26	chr1:221290400-221292800	Enhancers	NHLF	lung
27	chr1:221290600-221290800	Enhancers	Pancreas	Pancrea
28	chr1:221290600-221290800	Enhancers	Right Ventricle	heart
29	chr1:221290600-221290800	Enhancers	Small Intestine	intestine
30	chr1:221290600-221291000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:221290600-221291200	Enhancers	Right Atrium	heart
32	chr1:221290600-221291200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:221290600-221291600	Enhancers	Fetal Heart	heart
34	chr1:221290600-221291600	Flanking Active TSS	Osteobl	bone
35	chr1:221290600-221291800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:221290600-221291800	Enhancers	Fetal Kidney	kidney
37	chr1:221290600-221292000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:221290600-221292200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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