Variant report

Variant	rs41438045
Chromosome Location	chr14:77692781-77692782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17105547	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287379	0.91[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap]
rs369059	0.89[MKK][hapmap]
rs369447	0.90[AFR][1000 genomes]
rs371931	0.82[AFR][1000 genomes]
rs393187	0.87[AFR][1000 genomes]
rs394111	0.85[AFR][1000 genomes]
rs404728	0.94[AFR][1000 genomes]
rs412709	0.95[LWK][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap]
rs425310	0.91[GIH][hapmap]
rs4396457	0.88[MEX][hapmap]
rs440869	0.95[LWK][hapmap];0.87[MKK][hapmap]
rs450587	0.87[TSI][hapmap]
rs55939042	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56357623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66846709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004209	0.91[GIH][hapmap]
rs8006732	0.91[GIH][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs41438045	ADCK1	cis	cerebellum	SCAN
rs41438045	TMEM63C	cis	cerebellum	SCAN
rs41438045	YLPM1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77685000-77692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:77687000-77697000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:77687000-77697200	Weak transcription	Brain Anterior Caudate	brain
6	chr14:77687000-77697800	Weak transcription	Pancreas	Pancrea
7	chr14:77687800-77692800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:77688400-77692800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:77689400-77702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:77690400-77693800	Weak transcription	Fetal Brain Female	brain
11	chr14:77691200-77693000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:77691400-77692800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr14:77691600-77696800	Weak transcription	Brain Germinal Matrix	brain
14	chr14:77691600-77703000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:77691800-77692800	Strong transcription	Fetal Intestine Small	intestine
16	chr14:77692000-77693000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:77692000-77693000	Strong transcription	Brain Angular Gyrus	brain
18	chr14:77692600-77694000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:77692600-77696600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:77692600-77697400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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