Variant report

Variant	rs1957420
Chromosome Location	chr14:65364066-65364067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10498518	0.91[AFR][1000 genomes]
rs11622394	0.88[AFR][1000 genomes]
rs11626982	0.86[AFR][1000 genomes]
rs11627589	0.81[AFR][1000 genomes]
rs11627688	0.86[AFR][1000 genomes]
rs11844283	0.84[ASN][1000 genomes]
rs11848113	0.88[AFR][1000 genomes]
rs12147448	0.83[ASN][1000 genomes]
rs12433639	0.83[AFR][1000 genomes]
rs12433641	0.83[AFR][1000 genomes]
rs12436747	0.88[AFR][1000 genomes]
rs12590986	0.93[AFR][1000 genomes]
rs12878229	0.81[AFR][1000 genomes]
rs12881353	0.93[AFR][1000 genomes]
rs12884463	0.84[AFR][1000 genomes]
rs12889417	0.93[AFR][1000 genomes]
rs12890654	0.93[AFR][1000 genomes]
rs1951489	0.84[ASN][1000 genomes]
rs1957417	0.86[AFR][1000 genomes]
rs1957418	0.83[AFR][1000 genomes]
rs1957419	0.93[AFR][1000 genomes]
rs1957421	0.93[AFR][1000 genomes]
rs1957422	0.84[ASN][1000 genomes]
rs1957423	0.83[AFR][1000 genomes]
rs1957425	0.93[AFR][1000 genomes]
rs1957426	0.86[AFR][1000 genomes]
rs1983769	0.84[ASN][1000 genomes]
rs2016653	0.83[ASN][1000 genomes]
rs2104170	0.84[ASN][1000 genomes]
rs2357867	0.91[AFR][1000 genomes]
rs2357868	0.93[AFR][1000 genomes]
rs34201584	0.88[AFR][1000 genomes]
rs34969442	0.81[AFR][1000 genomes]
rs35176965	0.83[AFR][1000 genomes]
rs55983720	0.80[ASN][1000 genomes]
rs58989463	0.83[ASN][1000 genomes]
rs6573584	0.83[ASN][1000 genomes]
rs7149446	0.84[ASN][1000 genomes]
rs7151401	0.86[AFR][1000 genomes]
rs7151780	0.93[AFR][1000 genomes]
rs7158624	0.83[ASN][1000 genomes]
rs743264	0.90[AFR][1000 genomes]
rs762071	0.81[AFR][1000 genomes]
rs8021590	0.83[AFR][1000 genomes]
rs8022462	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1311	chr14:65352722-65379802	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv510638	chr14:65353025-65368298	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3391571	chr14:65360199-65364497	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1957420	CHURC1	cis	Esophagus Muscularis	GTEx
rs1957420	CHURC1	cis	Adipose Subcutaneous	GTEx
rs1957420	CHURC1	cis	Artery Tibial	GTEx
rs1957420	CHURC1	cis	Esophagus Mucosa	GTEx
rs1957420	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs1957420	CHURC1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65358600-65368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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