Variant report

Variant	rs7149459
Chromosome Location	chr14:81104718-81104719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10130406	0.88[ASN][1000 genomes]
rs10130415	0.87[ASN][1000 genomes]
rs10130508	0.94[ASN][1000 genomes]
rs10130522	0.94[ASN][1000 genomes]
rs10131100	0.94[ASN][1000 genomes]
rs10135604	0.81[CHD][hapmap]
rs10136394	0.94[ASN][1000 genomes]
rs10139763	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140109	0.92[ASN][1000 genomes]
rs10143228	0.94[ASN][1000 genomes]
rs10146465	0.81[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs10146576	0.94[ASN][1000 genomes]
rs10146659	0.95[ASN][1000 genomes]
rs10146748	0.93[ASN][1000 genomes]
rs10147245	0.94[ASN][1000 genomes]
rs10150384	0.90[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs10151209	0.94[ASN][1000 genomes]
rs10498544	0.84[TSI][hapmap]
rs11159468	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs11159469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11844906	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11847664	0.93[ASN][1000 genomes]
rs12587285	0.86[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs12588381	0.90[ASN][1000 genomes]
rs12878113	0.93[CEU][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs12881248	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs12886241	0.84[TSI][hapmap]
rs12889844	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1547499	0.90[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs1547500	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs17110851	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17110854	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17110914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110923	0.89[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs17110926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110955	0.94[ASN][1000 genomes]
rs1868546	0.89[ASN][1000 genomes]
rs1972298	0.95[ASN][1000 genomes]
rs2167148	0.95[ASN][1000 genomes]
rs2596117	0.87[ASN][1000 genomes]
rs2597083	0.90[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs2597085	0.86[ASN][1000 genomes]
rs2619659	0.89[JPT][hapmap]
rs2619667	0.80[ASN][1000 genomes]
rs34019777	0.95[EUR][1000 genomes]
rs34481438	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34489190	0.92[EUR][1000 genomes]
rs34536975	0.84[EUR][1000 genomes]
rs34946091	0.95[EUR][1000 genomes]
rs35038680	0.95[EUR][1000 genomes]
rs35426127	0.87[EUR][1000 genomes]
rs35505520	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35930082	0.94[EUR][1000 genomes]
rs56256007	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58902662	0.95[ASN][1000 genomes]
rs61429001	0.95[ASN][1000 genomes]
rs61979379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979380	0.95[ASN][1000 genomes]
rs61979382	0.89[ASN][1000 genomes]
rs61981704	0.94[EUR][1000 genomes]
rs61981706	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6574594	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574595	0.90[ASN][1000 genomes]
rs67116258	0.95[EUR][1000 genomes]
rs7140355	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7140933	0.94[ASN][1000 genomes]
rs7144224	0.94[EUR][1000 genomes]
rs7148223	0.94[ASN][1000 genomes]
rs7148754	0.94[ASN][1000 genomes]
rs7148885	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7153484	0.90[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7157843	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7160749	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs8008043	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs8010347	0.84[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8012237	0.94[ASN][1000 genomes]
rs8017175	0.86[EUR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7149459	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81083400-81109400	Weak transcription	Dnd41	blood
2	chr14:81099000-81106200	Weak transcription	Psoas Muscle	Psoas
3	chr14:81099000-81109600	Weak transcription	Thymus	Thymus
4	chr14:81100400-81105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81100600-81104800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:81103200-81106400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:81103800-81105800	Enhancers	Osteobl	bone
8	chr14:81103800-81106400	Enhancers	Hela-S3	cervix
9	chr14:81104000-81105200	Enhancers	HSMMtube	muscle
10	chr14:81104000-81105400	Enhancers	NHDF-Ad	bronchial
11	chr14:81104000-81105800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:81104000-81106200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:81104200-81105400	Enhancers	HSMM	muscle
14	chr14:81104200-81105800	Enhancers	NHLF	lung
15	chr14:81104200-81106000	Enhancers	NH-A	brain
16	chr14:81104200-81106200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81104200-81106200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:81104400-81105800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:81104600-81105000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:81104600-81105000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:81104600-81105000	Flanking Active TSS	A549	lung
22	chr14:81104600-81105000	Flanking Active TSS	HUVEC	blood vessel
23	chr14:81104600-81105200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:81104600-81105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:81104600-81105200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:81104600-81105400	Enhancers	HMEC	breast
27	chr14:81104600-81106200	Enhancers	NHEK	skin

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