Variant report

Variant	rs1876529
Chromosome Location	chr14:77683480-77683481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1319322	1.00[JPT][hapmap]
rs2110909	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287375	0.85[ASW][hapmap]
rs2287377	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs421146	0.81[TSI][hapmap]
rs4243654	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899644	0.81[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap]
rs4903561	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs978607	0.85[CEU][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1876529	ACOT6	cis	parietal	SCAN
rs1876529	AHSA1	cis	cerebellum	SCAN
rs1876529	C14orf43	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77671000-77685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:77671000-77686200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:77674600-77685400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:77674800-77686400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:77679400-77686200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:77679600-77686000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:77680000-77686000	Weak transcription	Spleen	Spleen
9	chr14:77680000-77686600	Weak transcription	Brain Angular Gyrus	brain
10	chr14:77680200-77685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:77680200-77685600	Weak transcription	Fetal Brain Female	brain
12	chr14:77680200-77688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:77682400-77686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:77683200-77686400	Weak transcription	Fetal Brain Male	brain
15	chr14:77683400-77683800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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

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