Variant report

Variant	rs4144252
Chromosome Location	chr13:38058293-38058294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12874878	0.99[ASN][1000 genomes]
rs1322809	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1322810	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2025246	0.86[ASN][1000 genomes]
rs2273894	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273895	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144253	0.83[ASN][1000 genomes]
rs4144254	0.83[ASN][1000 genomes]
rs4144255	0.83[ASN][1000 genomes]
rs4391922	0.85[ASN][1000 genomes]
rs7319671	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7323534	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7325567	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7326717	0.83[ASN][1000 genomes]
rs7329107	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7332389	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7983125	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7984328	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7991077	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7995726	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7996210	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9532061	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9532063	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9547875	0.82[ASN][1000 genomes]
rs9547883	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9547900	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9566228	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9576271	0.84[ASN][1000 genomes]
rs9576280	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9603187	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38053600-38063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:38055800-38059400	Weak transcription	Ovary	ovary
3	chr13:38055800-38060000	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:38055800-38065200	Weak transcription	HSMMtube	muscle
5	chr13:38056000-38059600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:38056200-38059400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:38056200-38065600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:38056400-38059800	Weak transcription	NH-A	brain
9	chr13:38056400-38061600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:38056600-38058400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:38056600-38059800	Weak transcription	NHDF-Ad	bronchial
12	chr13:38056800-38058400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:38057400-38059200	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:38057600-38059800	Weak transcription	Fetal Lung	lung
15	chr13:38057800-38060000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:38058000-38060000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:38058200-38058400	Enhancers	Adipose Nuclei	Adipose
18	chr13:38058200-38058600	Enhancers	Fetal Stomach	stomach
19	chr13:38058200-38058600	Enhancers	NHLF	lung
20	chr13:38058200-38059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:38058200-38060000	Enhancers	Osteobl	bone

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