Variant report

Variant	rs4895253
Chromosome Location	chr5:119782490-119782491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10036322	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10447269	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10478464	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12109029	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13357775	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13359009	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13435941	0.82[EUR][1000 genomes]
rs1347070	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1368182	0.81[CEU][hapmap]
rs1368189	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1394115	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1404300	1.00[CHB][hapmap]
rs1432457	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1432461	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1432464	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17146635	0.83[ASN][1000 genomes]
rs17146644	0.83[ASN][1000 genomes]
rs17146710	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1902147	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2082353	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2082356	0.85[EUR][1000 genomes]
rs2601210	1.00[CHB][hapmap]
rs2601211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2604163	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2655067	1.00[JPT][hapmap]
rs2655069	1.00[CHB][hapmap]
rs35399227	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41357149	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4895250	0.85[EUR][1000 genomes]
rs4895261	1.00[JPT][hapmap]
rs59336675	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6595232	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6595236	1.00[CHB][hapmap]
rs6865215	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6878266	0.81[AMR][1000 genomes]
rs6883068	1.00[JPT][hapmap]
rs6895493	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7446731	0.83[EUR][1000 genomes]
rs753641	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7701804	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7710928	1.00[CHB][hapmap]
rs7727978	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7733602	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9327142	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982827	0.85[AMR][1000 genomes];0.85[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	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	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr5:119777400-119784000	Enhancers	Fetal Heart	heart
2	chr5:119777800-119785200	Weak transcription	Psoas Muscle	Psoas
3	chr5:119779600-119783600	Weak transcription	Aorta	Aorta
4	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:119780800-119784200	Enhancers	HUVEC	blood vessel
6	chr5:119780800-119786200	Enhancers	HSMM	muscle
7	chr5:119781000-119783800	Enhancers	NHLF	lung
8	chr5:119781000-119784000	Enhancers	NH-A	brain
9	chr5:119781000-119784000	Enhancers	Osteobl	bone
10	chr5:119781000-119784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
12	chr5:119781200-119782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:119781200-119783000	Enhancers	Fetal Lung	lung
14	chr5:119781400-119783000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:119781400-119783600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:119781400-119785000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:119781600-119783000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:119781600-119783200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:119781800-119783000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:119781800-119783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:119781800-119783800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:119782000-119782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:119782000-119782800	Flanking Active TSS	NHDF-Ad	bronchial
24	chr5:119782000-119783000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:119782000-119783200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:119782000-119785800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:119782200-119782600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:119782200-119785200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:119782400-119782600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:119782400-119782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:119782400-119783400	Weak transcription	HMEC	breast
32	chr5:119782400-119783800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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