Variant report

Variant	rs8030940
Chromosome Location	chr15:83570114-83570115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1002881	0.88[JPT][hapmap];0.84[MEX][hapmap]
rs11259954	0.82[JPT][hapmap]
rs12101624	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256424	0.88[JPT][hapmap]
rs1256426	0.94[JPT][hapmap]
rs1588546	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs17158168	0.88[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17158194	0.87[ASW][hapmap];0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17841162	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17841163	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2127648	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306428	0.87[ASW][hapmap];0.88[CEU][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs2667377	0.83[JPT][hapmap]
rs2667378	0.88[JPT][hapmap]
rs3784365	0.97[ASN][1000 genomes]
rs3784366	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs56686717	0.87[ASN][1000 genomes]
rs7174216	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7174726	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][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	nsv522673	chr15:83565711-83570114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8030940	TM6SF1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83540600-83573200	Weak transcription	Right Atrium	heart
2	chr15:83559600-83570200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:83560400-83570200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:83567800-83570400	Enhancers	Psoas Muscle	Psoas
5	chr15:83568200-83570800	Enhancers	Pancreas	Pancrea
6	chr15:83568200-83585400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:83569200-83570200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:83569200-83570400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:83569200-83571600	Enhancers	Liver	Liver
10	chr15:83569400-83570400	Enhancers	HSMMtube	muscle
11	chr15:83569400-83570600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr15:83569400-83571000	Enhancers	HepG2	liver
13	chr15:83569600-83570800	Enhancers	Gastric	stomach
14	chr15:83569800-83570200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:83569800-83570200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:83569800-83570400	Enhancers	Left Ventricle	heart
17	chr15:83569800-83570400	Enhancers	Right Ventricle	heart
18	chr15:83570000-83570400	Enhancers	Brain Hippocampus Middle	brain
19	chr15:83570000-83570600	Active TSS	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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