Variant report

Variant	rs6756571
Chromosome Location	chr2:190505697-190505698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10931430	0.81[ASN][1000 genomes]
rs11679767	0.81[ASN][1000 genomes]
rs12471663	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693551	0.83[ASN][1000 genomes]
rs4667296	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667297	0.83[ASN][1000 genomes]
rs4667299	0.81[ASN][1000 genomes]
rs61487110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6434355	0.82[EUR][1000 genomes]
rs6434361	0.80[ASN][1000 genomes]
rs6756040	0.82[EUR][1000 genomes]
rs6756657	0.82[EUR][1000 genomes]
rs6756913	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761923	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7568449	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7577644	0.82[EUR][1000 genomes]
rs893784	0.82[ASN][1000 genomes]
rs9646811	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6756571	ASNSD1	cis	Thyroid	GTEx
rs6756571	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs6756571	ASNSD1	cis	Whole Blood	GTEx
rs6756571	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs6756571	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs6756571	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190502000-190506000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:190503000-190506200	Enhancers	Fetal Intestine Large	intestine
3	chr2:190503200-190506800	Enhancers	Hela-S3	cervix
4	chr2:190503400-190507000	Enhancers	Stomach Mucosa	stomach
5	chr2:190503600-190505800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:190504200-190505800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:190504200-190506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:190505000-190506000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:190505600-190506600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:190505600-190506600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:190505600-190506600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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