Variant report

Variant	rs7720476
Chromosome Location	chr5:15635087-15635088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10053108	0.96[CEU][hapmap]
rs1025328	0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs1025329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10454921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11745041	0.85[CEU][hapmap]
rs11748066	0.87[YRI][hapmap]
rs11953541	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12055198	0.85[EUR][1000 genomes]
rs12187510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12187518	0.82[CEU][hapmap];0.80[YRI][hapmap]
rs12189306	0.94[ASN][1000 genomes]
rs12189348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12652710	0.91[ASN][1000 genomes]
rs12652729	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12656824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12656926	0.91[ASN][1000 genomes]
rs12658046	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12659622	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12757	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159972	0.96[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs13165880	0.96[CEU][hapmap]
rs13170478	1.00[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap]
rs13185548	0.92[CEU][hapmap]
rs1429032	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523312	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17601883	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs17647599	0.92[CEU][hapmap]
rs1835128	0.88[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1835129	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1991529	0.96[CEU][hapmap];0.88[TSI][hapmap]
rs2217346	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs2914763	0.92[EUR][1000 genomes]
rs4295390	1.00[CEU][hapmap]
rs4702090	0.92[CEU][hapmap]
rs4702098	0.92[CEU][hapmap]
rs60120968	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864426	0.91[YRI][hapmap]
rs6869226	0.85[CEU][hapmap]
rs6878081	0.91[CEU][hapmap]
rs6878131	1.00[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs6879143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6891138	0.96[CEU][hapmap];0.92[TSI][hapmap]
rs6898779	1.00[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs7706195	0.87[YRI][hapmap]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:15610400-15635200	Weak transcription	Fetal Stomach	stomach
3	chr5:15613600-15635200	Weak transcription	Right Ventricle	heart
4	chr5:15620800-15635400	Weak transcription	Psoas Muscle	Psoas
5	chr5:15621400-15635400	Weak transcription	Aorta	Aorta
6	chr5:15627600-15635400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:15627600-15648000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:15627800-15637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:15628800-15635200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:15629800-15635200	Weak transcription	Left Ventricle	heart
11	chr5:15629800-15635200	Weak transcription	Ovary	ovary
12	chr5:15630200-15635200	Weak transcription	NHDF-Ad	bronchial
13	chr5:15630600-15635200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:15630600-15635200	Weak transcription	Osteobl	bone
15	chr5:15631000-15635400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:15631400-15635200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:15631400-15645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:15633600-15644600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:15633800-15637000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:15634000-15638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:15634400-15635200	Weak transcription	Right Atrium	heart
22	chr5:15634600-15635200	Enhancers	Stomach Smooth Muscle	stomach
23	chr5:15634600-15635400	Enhancers	HSMMtube	muscle
24	chr5:15634600-15636000	Enhancers	HSMM	muscle
25	chr5:15634800-15635600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:15634800-15635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:15634800-15635800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:15634800-15636800	Enhancers	Fetal Heart	heart
29	chr5:15635000-15636000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:15635000-15636000	Enhancers	Brain Angular Gyrus	brain
31	chr5:15635000-15636000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:15635000-15636200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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