Variant report

Variant	rs17501927
Chromosome Location	chr5:120019498-120019499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10434767	1.00[JPT][hapmap]
rs10434768	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10434769	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10463728	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10463729	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10519647	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519648	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449144	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1449145	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17429630	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17429749	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17501753	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17501872	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839246	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2122190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2405964	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4895272	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4895273	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4895274	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4895275	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59166325	0.88[ASN][1000 genomes]
rs60807869	0.88[ASN][1000 genomes]
rs62377807	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62377808	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62377810	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62377815	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62377816	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62377818	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62377819	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62379788	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62379789	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6871826	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72781609	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72792301	0.91[AFR][1000 genomes]
rs72794307	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794308	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72794324	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794327	0.88[ASN][1000 genomes]
rs72794329	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794336	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794341	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794345	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72794351	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72798425	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7736461	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9327154	1.00[YRI][hapmap]
rs9686370	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830464	chr5:119950090-120106717	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv830465	chr5:119973839-120151853	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1029773	chr5:120018166-120213999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
2	chr5:120007400-120021800	Weak transcription	Fetal Lung	lung
3	chr5:120008000-120021600	Weak transcription	Aorta	Aorta
4	chr5:120016000-120020200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120016400-120020800	Enhancers	NHDF-Ad	bronchial
6	chr5:120016600-120021000	Enhancers	Osteobl	bone
7	chr5:120017200-120020000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:120017400-120020200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:120017600-120019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:120017800-120020600	Enhancers	NH-A	brain
11	chr5:120018200-120020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:120018200-120020800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:120018400-120020400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:120018400-120020600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:120018400-120026000	Weak transcription	NHLF	lung
16	chr5:120018600-120020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:120018800-120019800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:120018800-120020400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:120019000-120021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:120019200-120020200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:120019200-120021600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:120019400-120019600	Enhancers	Dnd41	blood
23	chr5:120019400-120019600	Enhancers	HSMM	muscle
24	chr5:120019400-120020400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:120019400-120020800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:120019400-120021000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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