Variant report

Variant	rs697913
Chromosome Location	chr3:191130313-191130314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1066857	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13061649	0.93[ASN][1000 genomes]
rs150505	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1656143	0.93[ASN][1000 genomes]
rs1662184	0.93[ASN][1000 genomes]
rs167148	0.93[ASN][1000 genomes]
rs1715641	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176821	0.93[ASN][1000 genomes]
rs176822	0.90[ASN][1000 genomes]
rs184140	0.93[ASN][1000 genomes]
rs1850961	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs186064	0.93[ASN][1000 genomes]
rs186065	0.93[ASN][1000 genomes]
rs186068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs211043	0.93[ASN][1000 genomes]
rs2572064	0.93[ASN][1000 genomes]
rs293807	0.93[ASN][1000 genomes]
rs293809	0.93[ASN][1000 genomes]
rs293810	0.93[ASN][1000 genomes]
rs293811	0.93[ASN][1000 genomes]
rs293812	0.93[ASN][1000 genomes]
rs293813	0.93[ASN][1000 genomes]
rs293814	0.93[ASN][1000 genomes]
rs293816	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs293817	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs293837	0.93[ASN][1000 genomes]
rs293839	0.93[ASN][1000 genomes]
rs293840	0.93[ASN][1000 genomes]
rs293841	0.93[ASN][1000 genomes]
rs293852	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs293854	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs293856	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs293857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs293858	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs293859	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs364519	0.93[ASN][1000 genomes]
rs366626	0.81[AFR][1000 genomes]
rs383529	0.93[ASN][1000 genomes]
rs386241	0.93[ASN][1000 genomes]
rs389765	0.93[ASN][1000 genomes]
rs392311	0.93[ASN][1000 genomes]
rs399575	0.93[ASN][1000 genomes]
rs403078	0.93[ASN][1000 genomes]
rs407226	0.93[ASN][1000 genomes]
rs415149	0.93[ASN][1000 genomes]
rs420266	0.93[ASN][1000 genomes]
rs423989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429374	0.93[ASN][1000 genomes]
rs429521	0.93[ASN][1000 genomes]
rs436393	0.93[ASN][1000 genomes]
rs436428	0.93[ASN][1000 genomes]
rs438589	0.93[ASN][1000 genomes]
rs440266	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs441509	0.93[ASN][1000 genomes]
rs445914	0.93[ASN][1000 genomes]
rs447931	0.93[ASN][1000 genomes]
rs449398	0.93[ASN][1000 genomes]
rs491252	0.93[ASN][1000 genomes]
rs497918	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs513632	0.93[ASN][1000 genomes]
rs520494	0.93[ASN][1000 genomes]
rs520600	0.91[ASN][1000 genomes]
rs568702	0.90[ASN][1000 genomes]
rs578401	0.93[ASN][1000 genomes]
rs695910	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs696347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs696348	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs696349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191111000-191130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:191127400-191130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:191129000-191130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:191129000-191134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:191129400-191135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:191130000-191131000	Enhancers	NH-A	brain
7	chr3:191130000-191131200	Enhancers	HUVEC	blood vessel
8	chr3:191130000-191131400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:191130200-191130400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:191130200-191130600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:191130200-191130800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:191130200-191131000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:191130200-191131000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:191130200-191131000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:191130200-191131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:191130200-191131000	Enhancers	HSMM	muscle
17	chr3:191130200-191131200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:191130200-191131400	Enhancers	NHEK	skin
19	chr3:191130200-191132800	Enhancers	NHDF-Ad	bronchial

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