Variant report

Variant	rs2287379
Chromosome Location	chr14:77705411-77705412
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17105594	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2287383	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2287385	0.85[CEU][hapmap]
rs369059	0.86[TSI][hapmap]
rs41438045	0.91[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap]
rs425310	1.00[CEU][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs436221	0.92[CEU][hapmap]
rs55903932	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923743	0.93[EUR][1000 genomes]
rs57178676	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59262654	0.93[EUR][1000 genomes]
rs67130018	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67366981	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003060	0.85[CEU][hapmap]
rs8004209	0.85[CEU][hapmap];0.96[GIH][hapmap]
rs8006117	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs8006676	0.92[EUR][1000 genomes]
rs8006732	1.00[CEU][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs8007762	0.85[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][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
rs2287379	YLPM1	cis	cerebellum	SCAN
rs2287379	TMEM63C	cis	cerebellum	SCAN
rs2287379	ADCK1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:77693000-77705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
6	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
7	chr14:77700000-77706000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:77700400-77705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:77701400-77708400	Weak transcription	Brain Angular Gyrus	brain
10	chr14:77701600-77710000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:77704600-77705800	Strong transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:77704800-77705600	Enhancers	Brain Anterior Caudate	brain
13	chr14:77704800-77719200	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:77705000-77707800	Strong transcription	Brain Germinal Matrix	brain
15	chr14:77705200-77705800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:77705400-77707000	Strong transcription	Fetal Brain Female	brain

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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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