Variant report

Variant	rs2828
Chromosome Location	chr14:65336050-65336051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12437108	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1547087	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1570295	0.91[CEU][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1951494	0.81[ASN][1000 genomes]
rs2277501	0.84[CHB][hapmap]
rs28679793	0.83[ASN][1000 genomes]
rs396974	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs435627	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs67357087	0.83[ASN][1000 genomes]
rs8016174	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2828	CHURC1	cis	Thyroid	GTEx
rs2828	CHURC1	cis	Artery Tibial	GTEx
rs2828	CHURC1	cis	lymphoblastoid	seeQTL
rs2828	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs2828	CHURC1	cis	Cerebellum	GTEx
rs2828	CHURC1	cis	Esophagus Mucosa	GTEx
rs2828	CHURC1	cis	Esophagus Muscularis	GTEx
rs2828	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs2828	CHURC1	cis	Temporal Cortex	GTEx
rs2828	CHURC1	cis	Whole Blood	GTEx
rs2828	C14orf52	cis	multi-tissue	Pritchard
rs2828	CHURC1	cis	Brain Pons	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65331800-65342400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr14:65334200-65340800	Weak transcription	Fetal Heart	heart
3	chr14:65334200-65342000	Weak transcription	Right Atrium	heart
4	chr14:65335600-65344600	Weak transcription	Right Ventricle	heart
5	chr14:65335800-65336200	Weak transcription	Psoas Muscle	Psoas
6	chr14:65336000-65336800	Weak transcription	K562	blood
7	chr14:65336000-65337000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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