Variant report

Variant	rs1418300
Chromosome Location	chr6:82695387-82695388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10755418	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10806231	0.82[EUR][1000 genomes]
rs10806232	0.83[EUR][1000 genomes]
rs10806233	0.83[EUR][1000 genomes]
rs10806234	0.84[EUR][1000 genomes]
rs10943838	0.83[EUR][1000 genomes]
rs10943841	0.83[EUR][1000 genomes]
rs10943842	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12194197	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199519	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12212514	0.83[EUR][1000 genomes]
rs12213171	0.80[EUR][1000 genomes]
rs12215152	0.84[EUR][1000 genomes]
rs12525526	0.84[EUR][1000 genomes]
rs1361684	0.85[EUR][1000 genomes]
rs1361686	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs1361688	0.82[EUR][1000 genomes]
rs1418296	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1418299	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418301	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857115	0.83[EUR][1000 genomes]
rs1935417	0.93[EUR][1000 genomes]
rs1935418	0.93[EUR][1000 genomes]
rs2185729	0.81[EUR][1000 genomes]
rs2211370	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2323536	0.83[EUR][1000 genomes]
rs2875088	0.84[EUR][1000 genomes]
rs4262223	0.82[EUR][1000 genomes]
rs4292569	0.82[EUR][1000 genomes]
rs4449673	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4535596	0.93[EUR][1000 genomes]
rs4540297	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4637689	0.84[EUR][1000 genomes]
rs4706148	0.84[EUR][1000 genomes]
rs4706149	0.84[EUR][1000 genomes]
rs4706150	0.84[EUR][1000 genomes]
rs4706914	0.84[EUR][1000 genomes]
rs4706915	0.84[EUR][1000 genomes]
rs4706917	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6903637	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913193	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6937709	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs6939071	0.84[EUR][1000 genomes]
rs7754923	0.82[EUR][1000 genomes]
rs7770981	0.83[EUR][1000 genomes]

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	esv3358208	chr6:82677282-82700658	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1418300	SH3BGRL2	cis	cerebellum	SCAN
rs1418300	FAM46A	cis	cerebellum	SCAN
rs1418300	TBX18	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82692200-82697800	Weak transcription	Osteobl	bone
2	chr6:82694400-82695600	Enhancers	Hela-S3	cervix
3	chr6:82694600-82695800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:82694800-82695400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:82694800-82695400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:82694800-82695400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:82694800-82695400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:82694800-82695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:82694800-82695400	Enhancers	HMEC	breast
10	chr6:82695000-82695400	Enhancers	NHEK	skin
11	chr6:82695200-82704400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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