Variant report

Variant	rs422574
Chromosome Location	chr14:65306442-65306443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1033785	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498518	0.81[CHB][hapmap]
rs12590986	0.81[CHB][hapmap]
rs1475101	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1535450	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951488	0.81[CHB][hapmap]
rs1957425	0.85[CHB][hapmap]
rs230702	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs378391	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs396974	0.87[MEX][hapmap]
rs435627	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6573585	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs743264	0.81[CHB][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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs422574	CHURC1	cis	cerebellum	SCAN
rs422574	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs422574	PPP2R5E	cis	parietal	SCAN
rs422574	CHURC1	cis	normal skin	skin_eQTL
rs422574	CHURC1	cis	Whole Blood	GTEx
rs422574	CHURC1	cis	lymphoblastoid	seeQTL
rs422574	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs422574	CHURC1	cis	Esophagus Muscularis	GTEx
rs422574	CHURC1	cis	parietal	SCAN
rs422574	C14orf135	cis	cerebellum	SCAN
rs422574	SYT16	cis	parietal	SCAN
rs422574	CHURC1	cis	Thyroid	GTEx
rs422574	CHURC1	cis	Artery Tibial	GTEx
rs422574	C14orf52	cis	multi-tissue	Pritchard
rs422574	RAB15	cis	lymphoblastoid	seeQTL
rs422574	RAB15	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65296400-65308600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:65298000-65306800	Weak transcription	Right Atrium	heart
3	chr14:65298400-65309800	Weak transcription	Right Ventricle	heart
4	chr14:65303600-65308200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:65304000-65307000	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:65304800-65307200	Enhancers	K562	blood
7	chr14:65306000-65307800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:65306000-65307800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:65306200-65307800	Weak transcription	Aorta	Aorta
10	chr14:65306400-65306800	Weak transcription	Psoas Muscle	Psoas

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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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