Variant report

Variant	rs8014837
Chromosome Location	chr14:77681128-77681129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77680516..77683229-chr14:77749083..77750787,2	MCF-7	breast:
2	chr14:77672224..77674882-chr14:77679223..77681930,2	K562	blood:

Variant related genes	Relation type
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1078692	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11159251	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12881255	0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs12891631	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs12896627	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1467011	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs1504521	0.85[ASN][1000 genomes]
rs17105457	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1848402	0.83[ASN][1000 genomes]
rs1861420	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs207802	0.88[ASN][1000 genomes]
rs207804	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2655996	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2655997	0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2661828	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs4021325	0.86[ASN][1000 genomes]
rs56163542	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs70165	0.95[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs7140198	0.95[ASN][1000 genomes]
rs7148579	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs7154702	0.83[CEU][hapmap];0.93[ASN][1000 genomes]
rs8014408	0.83[AMR][1000 genomes]
rs8018250	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.94[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8014837	TMEM63C	cis	cerebellum	SCAN
rs8014837	ADCK1	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	chr14:77673600-77683400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:77674600-77685400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:77674800-77686400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:77679400-77686200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:77679600-77686000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:77680000-77686000	Weak transcription	Spleen	Spleen
10	chr14:77680000-77686600	Weak transcription	Brain Angular Gyrus	brain
11	chr14:77680200-77681200	Strong transcription	Fetal Intestine Small	intestine
12	chr14:77680200-77685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:77680200-77685600	Weak transcription	Fetal Brain Female	brain
14	chr14:77680200-77688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:77680800-77681200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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