Variant report

Variant	rs17778804
Chromosome Location	chr3:99515081-99515082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs15890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16841650	1.00[YRI][hapmap]
rs16841653	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs16841712	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17313676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17338576	1.00[AMR][1000 genomes]
rs17397949	1.00[AMR][1000 genomes]
rs17778707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779605	1.00[AMR][1000 genomes]
rs2035400	1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs36005744	1.00[AMR][1000 genomes]
rs4630975	1.00[JPT][hapmap]
rs6762809	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6772519	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6784150	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6787184	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6791426	1.00[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs6803576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6805703	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6807615	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6808420	1.00[YRI][hapmap]
rs7611313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7612083	1.00[YRI][hapmap]
rs7612089	1.00[YRI][hapmap]
rs7619738	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7626214	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7626310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7646221	1.00[AMR][1000 genomes]
rs768527	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9756455	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9757638	0.90[AFR][1000 genomes]
rs9824017	1.00[YRI][hapmap]
rs9843372	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 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	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:99502600-99518200	Weak transcription	HSMMtube	muscle
3	chr3:99502800-99518400	Weak transcription	NH-A	brain
4	chr3:99508400-99522200	Weak transcription	NHDF-Ad	bronchial
5	chr3:99508800-99518600	Strong transcription	Osteobl	bone
6	chr3:99510000-99523600	Weak transcription	HUVEC	blood vessel
7	chr3:99510400-99516200	Weak transcription	NHLF	lung
8	chr3:99510600-99515600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:99511800-99522800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:99512800-99515400	Weak transcription	Right Ventricle	heart
11	chr3:99513000-99515200	Strong transcription	HSMM	muscle
12	chr3:99513000-99515800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr3:99513000-99518400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:99513200-99515800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:99514200-99523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:99514600-99516400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:99514600-99516400	Weak transcription	NHEK	skin
18	chr3:99514600-99516800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:99514800-99523600	Weak transcription	Aorta	Aorta
20	chr3:99515000-99516600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:99515000-99520800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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