Variant report

Variant	rs391966
Chromosome Location	chr14:77696624-77696625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs367169	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376281	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389682	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs393129	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs395051	0.82[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs414815	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs436562	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68108370	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323638	0.81[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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs391966	TMEM63C	cis	cerebellum	SCAN
rs391966	ZDHHC22	cis	parietal	SCAN
rs391966	YLPM1	cis	cerebellum	SCAN
rs391966	SNW1	cis	parietal	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	chr14:77687000-77697000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:77687000-77697200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:77687000-77697800	Weak transcription	Pancreas	Pancrea
6	chr14:77689400-77702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:77691600-77696800	Weak transcription	Brain Germinal Matrix	brain
8	chr14:77691600-77703000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:77692600-77697400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:77692800-77699200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:77693000-77699800	Weak transcription	Brain Angular Gyrus	brain
13	chr14:77693000-77705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:77694400-77704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:77694600-77699000	Weak transcription	Fetal Brain Female	brain
16	chr14:77696600-77700000	Strong transcription	Pancreatic Islets	Pancreatic Islet

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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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