Variant report

Variant	rs1606481
Chromosome Location	chr3:99427552-99427553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1607993	0.92[CHD][hapmap];0.92[JPT][hapmap]
rs1630555	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1711557	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1857290	0.93[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs506186	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598174	0.92[CHD][hapmap];0.92[JPT][hapmap]
rs629120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs651511	0.92[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs668668	0.93[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs694429	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs704570	0.93[CHB][hapmap]
rs704573	0.93[CHB][hapmap]
rs792828	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs792829	0.93[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs792834	0.93[CHB][hapmap]
rs793492	0.80[CEU][hapmap]
rs793499	0.80[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1606481	OR5H6	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99397600-99432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:99411400-99439600	Weak transcription	NHEK	skin
3	chr3:99419000-99428200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:99419800-99430400	Weak transcription	Left Ventricle	heart
5	chr3:99420000-99428800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:99420000-99429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:99420000-99432800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:99420000-99433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:99420600-99430400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:99422600-99431200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:99423400-99432400	Genic enhancers	Osteobl	bone
12	chr3:99423800-99440000	Weak transcription	Adipose Nuclei	Adipose
13	chr3:99425000-99428200	Enhancers	Ovary	ovary
14	chr3:99425600-99433000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:99426000-99428000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:99426000-99428200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:99426000-99428200	Genic enhancers	Aorta	Aorta
18	chr3:99426000-99428400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:99426200-99427600	Enhancers	HSMMtube	muscle
20	chr3:99426400-99428000	Weak transcription	NH-A	brain
21	chr3:99426400-99428400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:99426600-99428000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:99426600-99439800	Weak transcription	NHLF	lung
24	chr3:99427000-99434200	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr3:99427200-99427800	Weak transcription	Right Atrium	heart
26	chr3:99427200-99432600	Genic enhancers	HUVEC	blood vessel
27	chr3:99427400-99427800	Weak transcription	HSMM	muscle
28	chr3:99427400-99431000	Weak transcription	NHDF-Ad	bronchial

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