Variant report

Variant	rs4895272
Chromosome Location	chr5:120023393-120023394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120020785..120023634-chr5:120024255..120028253,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10434767	1.00[JPT][hapmap]
rs10434768	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10434769	1.00[JPT][hapmap]
rs10463728	1.00[JPT][hapmap]
rs10463729	1.00[JPT][hapmap]
rs10519647	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10519648	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1449144	0.90[EUR][1000 genomes]
rs1449145	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17429630	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17429749	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17501753	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes]
rs17501872	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17501927	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1839246	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2122190	1.00[JPT][hapmap]
rs2405964	0.83[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4895273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895274	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4895275	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377807	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377808	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377810	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377815	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377816	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377818	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62377819	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62379788	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62379789	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6871826	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs72781609	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72794324	0.80[EUR][1000 genomes]
rs72794329	0.80[EUR][1000 genomes]
rs72794336	0.83[EUR][1000 genomes]
rs72794341	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72794345	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72794351	0.94[EUR][1000 genomes]
rs72798425	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7736461	0.83[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][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	chr5:120018400-120026000	Weak transcription	NHLF	lung
2	chr5:120020200-120025000	Weak transcription	Small Intestine	intestine
3	chr5:120020800-120026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:120020800-120027200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120020800-120033600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:120021000-120031800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:120021200-120026000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:120021200-120026400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:120021200-120026600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:120021200-120026600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:120021200-120031800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:120021200-120037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:120021600-120024800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:120021600-120028000	Strong transcription	HSMM	muscle
15	chr5:120021800-120031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:120022400-120024000	Weak transcription	Aorta	Aorta
17	chr5:120022400-120024000	Weak transcription	Fetal Stomach	stomach
18	chr5:120022400-120024200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:120022400-120024800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:120022400-120027600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:120022400-120027800	Weak transcription	Osteobl	bone
22	chr5:120022400-120028200	Weak transcription	Fetal Lung	lung
23	chr5:120022400-120029200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:120022400-120030400	Weak transcription	HSMMtube	muscle
25	chr5:120022800-120030800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:120023000-120030600	Weak transcription	NHDF-Ad	bronchial

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