Variant report

Variant	rs1746813
Chromosome Location	chr9:9829690-9829691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10759094	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap]
rs12004509	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1323794	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13288990	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1408131	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1768880	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2761741	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap]
rs2821519	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2821520	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2821523	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2821524	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs34133378	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62533719	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62533720	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62533721	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6477422	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7033762	0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7037028	0.83[ASN][1000 genomes]
rs7863526	0.94[ASN][1000 genomes]
rs912357	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs9408796	0.86[ASW][hapmap];0.92[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs973916	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892270	chr9:9591059-9860735	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2422381	chr9:9647540-9887820	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526471	chr9:9718066-9832245	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2829906	chr9:9737201-9897866	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1034731	chr9:9776126-10481262	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv892276	chr9:9778653-9851382	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2753179	chr9:9778653-9861006	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1019399	chr9:9780915-9942126	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv471276	chr9:9785685-9863227	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv892277	chr9:9785685-9882950	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv892278	chr9:9787587-9851382	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv892281	chr9:9790222-9851382	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv892283	chr9:9792811-9851382	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv466137	chr9:9793285-9831142	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv613325	chr9:9793285-9831142	Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1018814	chr9:9793285-9957301	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv466139	chr9:9793342-9858060	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv613326	chr9:9793342-9858060	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv466140	chr9:9794545-9851382	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv613327	chr9:9794545-9851382	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv892286	chr9:9794545-9851382	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv892287	chr9:9794545-9869714	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv892288	chr9:9794545-9882950	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv613332	chr9:9798092-9869714	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv613335	chr9:9800624-9855408	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
26	nsv466142	chr9:9801907-9858060	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
27	nsv613337	chr9:9801907-9858060	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
28	nsv613338	chr9:9801907-9859571	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
29	nsv892291	chr9:9802458-9851382	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
30	nsv892292	chr9:9802458-9869714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
31	nsv613340	chr9:9803954-9831209	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
32	nsv613341	chr9:9803954-9832245	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv613342	chr9:9803954-9855408	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
34	nsv466143	chr9:9803954-9858060	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
35	nsv613343	chr9:9803954-9858060	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
36	nsv466144	chr9:9803954-9860735	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
37	nsv613344	chr9:9803954-9860735	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
38	nsv613345	chr9:9804313-9831068	Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	inside rSNPs	diseases
39	nsv613346	chr9:9804718-9858060	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
40	nsv613348	chr9:9816955-9851382	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
41	nsv466145	chr9:9816955-9855408	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
42	nsv613349	chr9:9816955-9855408	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
43	nsv466146	chr9:9816955-9858060	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
44	nsv613350	chr9:9816955-9858060	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
45	nsv613351	chr9:9816955-9859571	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
46	nsv1019920	chr9:9817031-9925880	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv539984	chr9:9817031-9925880	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1025723	chr9:9817231-9950917	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv539985	chr9:9817231-9950917	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv613352	chr9:9829018-9859571	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1746813	GLDC	cis	cerebellum	SCAN
rs1746813	TYRP1	cis	parietal	SCAN
rs1746813	DNAJC8	trans	parietal	SCAN
rs1746813	KDM4C	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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