Variant report

Variant	rs8016418
Chromosome Location	chr14:70798289-70798290
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1044527	0.82[CEU][hapmap]
rs1060681	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158858	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11626228	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11626414	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12433609	0.82[EUR][1000 genomes]
rs12590808	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12880777	0.82[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs12880929	0.81[EUR][1000 genomes]
rs12893988	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs17475516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17476399	0.85[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs34511042	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34767236	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34866539	0.85[ASN][1000 genomes]
rs3966033	0.83[EUR][1000 genomes]
rs7493545	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs8019852	0.82[CEU][hapmap];0.85[CHB][hapmap];0.81[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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv3423875	chr14:70797749-70799547	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8016418	SMOC1	cis	cerebellum	SCAN
rs8016418	FGFR1OP	trans	cerebellum	SCAN
rs8016418	PAPLN	cis	parietal	SCAN
rs8016418	ADAM20	cis	cerebellum	SCAN
rs8016418	MAP3K9	cis	cerebellum	SCAN
rs8016418	COX16	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70783400-70799200	Weak transcription	NHEK	skin
2	chr14:70783600-70798600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:70784600-70798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:70784800-70798800	Weak transcription	Gastric	stomach
7	chr14:70785400-70799200	Weak transcription	Stomach Mucosa	stomach
8	chr14:70785600-70799000	Weak transcription	Psoas Muscle	Psoas
9	chr14:70786000-70799200	Weak transcription	Pancreas	Pancrea
10	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:70789000-70798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:70789200-70798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70789400-70798600	Weak transcription	Fetal Brain Female	brain
14	chr14:70789400-70798600	Weak transcription	Fetal Stomach	stomach
15	chr14:70789400-70798600	Weak transcription	Spleen	Spleen
16	chr14:70789400-70798800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:70789400-70799000	Weak transcription	Right Ventricle	heart
18	chr14:70789800-70798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:70790000-70798600	Weak transcription	Thymus	Thymus
20	chr14:70790200-70798600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:70790400-70799000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:70790400-70799200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:70790600-70798600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:70790600-70798800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:70790600-70799400	Weak transcription	Brain Anterior Caudate	brain
26	chr14:70790800-70798600	Weak transcription	Esophagus	oesophagus
27	chr14:70791000-70798800	Weak transcription	Colonic Mucosa	Colon
28	chr14:70791000-70799800	Weak transcription	Fetal Heart	heart
29	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
30	chr14:70791400-70799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:70791400-70799600	Weak transcription	NHLF	lung
32	chr14:70791600-70799400	Weak transcription	Fetal Brain Male	brain
33	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
34	chr14:70792200-70798600	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:70792400-70798800	Weak transcription	Lung	lung
36	chr14:70792800-70798600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:70792800-70798600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:70792800-70798600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:70792800-70798600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:70792800-70798800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:70792800-70798800	Weak transcription	A549	lung
42	chr14:70792800-70799400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:70792800-70799400	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:70792800-70801000	Weak transcription	Small Intestine	intestine
45	chr14:70792800-70825200	Weak transcription	NH-A	brain
46	chr14:70793000-70798600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:70793000-70799400	Weak transcription	HSMMtube	muscle
48	chr14:70793200-70799000	Weak transcription	HMEC	breast
49	chr14:70793200-70799200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:70793200-70799600	Weak transcription	Osteobl	bone

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