Variant report

Variant	rs1532418
Chromosome Location	chr16:65116239-65116240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1025311	0.86[JPT][hapmap]
rs1040270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1040271	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs10500508	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs1079008	0.86[JPT][hapmap]
rs12447201	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12935138	1.00[ASN][1000 genomes]
rs12935145	0.83[AMR][1000 genomes]
rs1356823	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520229	0.85[CEU][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1520230	0.85[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1520231	0.86[JPT][hapmap]
rs1520232	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs1520234	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1520236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1520243	0.93[JPT][hapmap]
rs16968461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16968480	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs1874458	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1874459	0.83[AMR][1000 genomes]
rs1879260	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1915117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2088285	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs2132543	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280396	0.93[JPT][hapmap]
rs257335	0.85[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs257336	0.85[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs257337	0.85[CEU][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs257341	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs257487	0.83[EUR][1000 genomes]
rs257490	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs257497	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs257498	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs28216	0.86[JPT][hapmap]
rs34553411	0.84[ASN][1000 genomes]
rs35054335	0.98[ASN][1000 genomes]
rs35140	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs35144	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs35146	0.80[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs35148	0.86[JPT][hapmap];0.82[MEX][hapmap]
rs35149	0.86[JPT][hapmap]
rs35150	0.86[JPT][hapmap]
rs35152	0.85[JPT][hapmap]
rs35154	0.86[JPT][hapmap]
rs35176	0.93[JPT][hapmap]
rs35177	0.82[EUR][1000 genomes]
rs35188	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs35191	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs35195	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap]
rs35198	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs35199	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs35200	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs35203	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs35204	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs35208	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs35209	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs35210	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs35214	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs35216	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs35219	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs35226	0.85[JPT][hapmap]
rs35709707	0.98[ASN][1000 genomes]
rs40115	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs40116	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs42863	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4393595	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4967866	0.86[JPT][hapmap]
rs4967868	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4967882	0.85[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4967884	0.82[ASN][1000 genomes]
rs4967885	0.96[ASN][1000 genomes]
rs4967886	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs62042237	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7204729	0.87[CHB][hapmap];0.82[CHD][hapmap];0.90[ASN][1000 genomes]
rs7498801	0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs8048351	0.96[ASN][1000 genomes]
rs878359	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs909003	0.86[JPT][hapmap]
rs973200	0.86[JPT][hapmap]
rs974782	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs990639	0.83[AMR][1000 genomes]
rs9935608	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1532418	FAM96B	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65105400-65117200	Weak transcription	HMEC	breast
3	chr16:65106200-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:65106400-65116800	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:65106400-65120000	Weak transcription	Brain Germinal Matrix	brain
6	chr16:65106400-65120400	Weak transcription	Aorta	Aorta
7	chr16:65106400-65128400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:65106400-65147600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:65106800-65132400	Weak transcription	HSMMtube	muscle
10	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:65107000-65117000	Weak transcription	NHDF-Ad	bronchial
12	chr16:65107000-65124000	Weak transcription	NHLF	lung
13	chr16:65107000-65132400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:65107400-65132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:65108200-65117000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:65109400-65117000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:65110000-65116800	Weak transcription	Fetal Brain Female	brain
18	chr16:65110000-65126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:65112600-65116600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:65112800-65117200	Weak transcription	Brain Anterior Caudate	brain
21	chr16:65112800-65127400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr16:65113200-65141600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:65113600-65117000	Weak transcription	Brain Angular Gyrus	brain
24	chr16:65113600-65119200	Weak transcription	NH-A	brain
25	chr16:65113600-65128600	Weak transcription	Fetal Kidney	kidney
26	chr16:65113600-65136400	Weak transcription	Spleen	Spleen
27	chr16:65113600-65138800	Weak transcription	Fetal Muscle Leg	muscle
28	chr16:65113800-65140400	Weak transcription	Fetal Brain Male	brain
29	chr16:65115000-65118400	Strong transcription	Fetal Stomach	stomach
30	chr16:65115600-65117800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:65115800-65116400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:65115800-65116400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr16:65115800-65116400	Enhancers	Ovary	ovary
34	chr16:65115800-65116800	Strong transcription	HSMM	muscle
35	chr16:65115800-65117000	Strong transcription	Osteobl	bone
36	chr16:65115800-65117600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:65115800-65118000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:65115800-65118200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:65115800-65147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:65116000-65116600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:65116000-65116600	Strong transcription	Fetal Lung	lung

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