Variant report

Variant	rs2736283
Chromosome Location	chr8:11225910-11225911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11225875-11225925	HAEpiC	amniotic membrane:	n/a
2	chr8:11225875-11225925	Caco-2	colon:	n/a
3	chr8:11225875-11225925	GM12891	blood:	n/a
4	chr8:11225875-11225925	GM12892	blood:	n/a
5	chr8:11225875-11225925	LNCaP	prostate:	n/a
6	chr8:11225875-11225925	SK-N-MC	brain:	n/a
7	chr8:11225875-11225925	ovcar-3	ovarian:	n/a
8	chr8:11225875-11225925	GM19239	blood:	n/a
9	chr8:11225875-11225925	AG04450	lung:	fetal
10	chr8:11225875-11225925	T-47D	breast:	n/a
11	chr8:11225875-11225925	SAEC	small airway:	n/a
12	chr8:11225875-11225925	HRE	kidney:	n/a
13	chr8:11225875-11225925	HL-60	blood:	n/a
14	chr8:11225875-11225925	HUVEC	blood vessel:	n/a
15	chr8:11225875-11225925	AG09319	gingival:	n/a
16	chr8:11225875-11225925	HCPEpiC	choroid plexus:	n/a
17	chr8:11225875-11225925	HCT-116	colon:	n/a
18	chr8:11225875-11225925	RPTEC	kidney:	n/a
19	chr8:11225875-11225925	SK-N-SH_RA	brain:	n/a
20	chr8:11225875-11225925	PFSK-1	brain:	n/a
21	chr8:11225875-11225925	GM12878	blood:	n/a
22	chr8:11225875-11225925	NH-A	brain:	n/a
23	chr8:11225875-11225925	SK-N-SH	brain:	n/a
24	chr8:11225875-11225925	PANC-1	pancreas:	n/a
25	chr8:11225875-11225925	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:11225875-11225925	NB4	blood:	n/a
27	chr8:11225875-11225925	MCF10A-Er-Src	breast:	n/a
28	chr8:11225875-11225925	HepG2	liver:	n/a
29	chr8:11225875-11225925	HCF	heart:	n/a
30	chr8:11225875-11225925	PrEC	prostate:	n/a
31	chr8:11225875-11225925	Hepatocyte	liver:	n/a
32	chr8:11225875-11225925	A549	lung:	n/a
33	chr8:11225875-11225925	K562	blood:	n/a
34	chr8:11225875-11225925	CMK	blood:	n/a
35	chr8:11225875-11225925	HEK293	kidney:	embryo
36	chr8:11225875-11225925	U87	brain:	n/a
37	chr8:11225875-11225925	HRCEpiC	kidney:	n/a
38	chr8:11225875-11225925	GM06990	blood:	n/a
39	chr8:11225875-11225925	HEEpiC	esophagus:	n/a
40	chr8:11225875-11225925	BE2_C	brain:	n/a
41	chr8:11225875-11225925	ProgFib	skin:	n/a
42	chr8:11225875-11225925	Hela-S3	cervix:	n/a
43	chr8:11225875-11225925	HRPEpiC	eye:	n/a
44	chr8:11225875-11225925	IMR90	lung:	fetal
45	chr8:11225875-11225925	AG10803	skin:	n/a
46	chr8:11225875-11225925	H1-hESC	embryonic stem cell:	embryo
47	chr8:11225875-11225925	AoSMC	blood vessel:	n/a
48	chr8:11225875-11225925	MCF-7	breast:	n/a
49	chr8:11225875-11225925	NT2-D1	testis:	n/a
50	chr8:11225875-11225925	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
C8orf12	CpG island

Extended variants
information (count: 89 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10096194	0.89[CEU][hapmap]
rs10098322	0.85[CEU][hapmap]
rs10110557	0.85[CEU][hapmap]
rs1047950	0.85[CEU][hapmap]
rs10503421	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11777746	0.82[AMR][1000 genomes]
rs11782430	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12549871	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12681987	0.92[CEU][hapmap]
rs12682349	0.82[AMR][1000 genomes]
rs1435275	0.81[AMR][1000 genomes]
rs1435277	0.85[CEU][hapmap]
rs17741537	0.89[CEU][hapmap]
rs17797894	0.89[CEU][hapmap]
rs1865521	0.88[AMR][1000 genomes]
rs2043508	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2043510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2060456	0.89[CEU][hapmap]
rs2060457	0.85[CEU][hapmap]
rs2060459	0.89[CEU][hapmap]
rs2246606	0.82[CEU][hapmap]
rs2263511	0.85[AMR][1000 genomes]
rs2263512	0.85[AMR][1000 genomes]
rs2293859	0.85[CEU][hapmap]
rs2293860	0.89[CEU][hapmap];0.82[GIH][hapmap]
rs2437152	0.81[AMR][1000 genomes]
rs2572371	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2572379	0.81[AMR][1000 genomes]
rs2572380	0.81[AMR][1000 genomes]
rs2572382	0.82[CEU][hapmap]
rs2572385	0.82[CEU][hapmap]
rs2572386	0.81[AMR][1000 genomes]
rs2572389	0.81[AMR][1000 genomes]
rs2572391	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2572394	0.81[AMR][1000 genomes]
rs2572395	0.80[AMR][1000 genomes]
rs2572399	0.81[AMR][1000 genomes]
rs2572400	0.81[AMR][1000 genomes]
rs2572450	0.85[AMR][1000 genomes]
rs2572452	0.92[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2736270	0.86[CEU][hapmap]
rs2736280	0.89[CEU][hapmap];0.88[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736282	0.92[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736285	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2736286	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2736287	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2736288	0.86[AMR][1000 genomes]
rs2736290	0.81[AMR][1000 genomes]
rs2736292	0.85[AMR][1000 genomes]
rs2736293	0.81[AMR][1000 genomes]
rs2736294	0.81[AMR][1000 genomes]
rs2736295	0.81[AMR][1000 genomes]
rs2736296	0.81[AMR][1000 genomes]
rs2736297	0.81[AMR][1000 genomes]
rs2736298	0.82[AMR][1000 genomes]
rs2736300	0.81[AMR][1000 genomes]
rs2736302	0.81[AMR][1000 genomes]
rs2736303	0.81[AMR][1000 genomes]
rs2736304	0.80[AMR][1000 genomes]
rs2898272	0.85[AMR][1000 genomes]
rs3779891	0.89[CEU][hapmap]
rs4413734	0.89[CEU][hapmap]
rs4448232	0.88[AMR][1000 genomes]
rs4631424	0.81[AMR][1000 genomes]
rs5029571	0.89[CEU][hapmap]
rs57629785	0.81[AMR][1000 genomes]
rs6601582	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs6601585	0.85[AMR][1000 genomes]
rs6995404	0.85[CEU][hapmap]
rs7005469	0.88[CEU][hapmap]
rs7016671	0.85[CEU][hapmap]
rs7819395	0.85[CEU][hapmap]
rs7820301	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7821302	0.81[AMR][1000 genomes]
rs7821459	0.81[AMR][1000 genomes]
rs7828263	0.81[AMR][1000 genomes]
rs7834572	0.81[AMR][1000 genomes]
rs7838897	0.85[CEU][hapmap]
rs7839053	0.85[CEU][hapmap]
rs920044	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2736283	TDH	cis	cerebellum	SCAN
rs2736283	C8orf48	cis	cerebellum	SCAN
rs2736283	CLDN23	cis	multi-tissue	Pritchard
rs2736283	PRSS55	cis	cerebellum	SCAN
rs2736283	C8orf79	cis	parietal	SCAN
rs2736283	FLJ10661	cis	cerebellum	SCAN
rs2736283	TDH	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain
2	chr8:11216000-11227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:11222800-11226400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:11223400-11229000	Weak transcription	Pancreas	Pancrea
6	chr8:11225000-11226400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:11225400-11229800	Weak transcription	K562	blood

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