Variant report

Variant	rs8004209
Chromosome Location	chr14:77716474-77716475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17105594	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs2287379	0.85[CEU][hapmap];0.96[GIH][hapmap]
rs2287383	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs2287385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41438045	0.91[GIH][hapmap]
rs425310	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs436221	0.91[CHB][hapmap]
rs55923743	0.88[ASN][1000 genomes]
rs56245630	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56753733	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59262654	0.86[ASN][1000 genomes]
rs8003060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003151	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003177	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006117	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs8006676	0.88[ASN][1000 genomes]
rs8006732	0.85[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs8007762	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8004209	ADCK1	cis	cerebellum	SCAN
rs8004209	TMEM63C	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
3	chr14:77704800-77719200	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:77708400-77720600	Strong transcription	Fetal Brain Female	brain
5	chr14:77709000-77718400	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr14:77709800-77729600	Weak transcription	Fetal Brain Male	brain
7	chr14:77711000-77717600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:77711200-77731000	Weak transcription	Spleen	Spleen
9	chr14:77712400-77720800	Strong transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:77712800-77720800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:77713200-77726800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:77713400-77720200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:77713400-77720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:77714000-77723400	Weak transcription	Fetal Intestine Large	intestine
15	chr14:77714800-77720800	Strong transcription	Brain Germinal Matrix	brain
16	chr14:77715000-77719600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:77715400-77719200	Weak transcription	Colonic Mucosa	Colon
18	chr14:77715400-77719800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:77715400-77720000	Strong transcription	Fetal Intestine Small	intestine
20	chr14:77715600-77718200	Weak transcription	Esophagus	oesophagus
21	chr14:77715800-77719600	Weak transcription	Brain Anterior Caudate	brain
22	chr14:77715800-77721400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:77716200-77718200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:77716200-77724200	Weak transcription	Brain Angular Gyrus	brain

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