Variant report

Variant	rs2964265
Chromosome Location	chr5:15620736-15620737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1120759	0.81[YRI][hapmap]
rs12055284	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1429034	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1582998	0.83[YRI][hapmap]
rs17647484	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17647490	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17704046	0.89[CHD][hapmap];0.87[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2059900	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2459500	0.81[YRI][hapmap]
rs2914762	0.83[YRI][hapmap]
rs2964271	0.89[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964272	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3097352	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3097353	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4558990	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4702087	0.87[YRI][hapmap]
rs496319	0.81[YRI][hapmap]
rs57447423	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6554889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs680474	1.00[TSI][hapmap]
rs6867762	1.00[TSI][hapmap]
rs7721329	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7736101	0.89[ASW][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891196	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4732	chr5:15598325-15636520	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
3	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:15605200-15620800	Weak transcription	HSMMtube	muscle
5	chr5:15605400-15621000	Weak transcription	Aorta	Aorta
6	chr5:15607400-15621400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:15608000-15621000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:15610000-15627400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:15610400-15635200	Weak transcription	Fetal Stomach	stomach
10	chr5:15611200-15621200	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:15613600-15635200	Weak transcription	Right Ventricle	heart
12	chr5:15615000-15621200	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:15616200-15621200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:15619200-15621800	Enhancers	Left Ventricle	heart
15	chr5:15619400-15620800	Weak transcription	Fetal Heart	heart
16	chr5:15619800-15620800	Enhancers	NH-A	brain
17	chr5:15619800-15620800	Enhancers	Osteobl	bone
18	chr5:15619800-15621000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:15619800-15621800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:15619800-15621800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:15619800-15621800	Enhancers	NHLF	lung
22	chr5:15619800-15622200	Enhancers	HUVEC	blood vessel
23	chr5:15620000-15620800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:15620000-15620800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:15620000-15621800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:15620600-15620800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:15620600-15620800	Enhancers	Lung	lung
28	chr5:15620600-15620800	Enhancers	Psoas Muscle	Psoas
29	chr5:15620600-15620800	Flanking Active TSS	HSMM	muscle
30	chr5:15620600-15621000	Enhancers	Spleen	Spleen
31	chr5:15620600-15621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:15620600-15621200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:15620600-15621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:15620600-15621600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:15620600-15621800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:15620600-15621800	Enhancers	Ovary	ovary
37	chr5:15620600-15622000	Enhancers	Adipose Nuclei	Adipose
38	chr5:15620600-15622000	Flanking Active TSS	NHDF-Ad	bronchial

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