Variant report

Variant	rs4590994
Chromosome Location	chr13:94427317-94427318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1411500	0.82[CHB][hapmap]
rs1933781	1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4238307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4556668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4622388	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628823	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4773758	0.82[CHB][hapmap]
rs6492675	0.81[AMR][1000 genomes]
rs7330971	0.81[AMR][1000 genomes]
rs7331304	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs7982874	0.81[AMR][1000 genomes]
rs7984578	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7988063	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7988294	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs7998877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9284273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9301903	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs9524197	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1130	chr13:94410849-94455628	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94416600-94429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94420600-94429000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:94420800-94427600	Weak transcription	A549	lung
4	chr13:94421400-94428000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:94423200-94427400	Weak transcription	HepG2	liver
6	chr13:94423600-94429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:94423600-94429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:94423600-94430000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:94423800-94427600	Weak transcription	Fetal Stomach	stomach
10	chr13:94423800-94429000	Weak transcription	Ovary	ovary
11	chr13:94424400-94427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:94424400-94427600	Weak transcription	HSMM	muscle
13	chr13:94424600-94427400	Weak transcription	Osteobl	bone
14	chr13:94425400-94427800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:94426400-94429600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:94426800-94427600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:94426800-94427800	Weak transcription	Aorta	Aorta
18	chr13:94427000-94429800	Enhancers	NH-A	brain
19	chr13:94427200-94428200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:94427200-94428200	Enhancers	Liver	Liver

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