Variant report

Variant	rs12204218
Chromosome Location	chr6:5513550-5513551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5511127..5514739-chr6:5516626..5520619,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12193006	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195596	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197357	1.00[ASN][1000 genomes]
rs12199468	0.87[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203435	1.00[ASN][1000 genomes]
rs12203726	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204655	1.00[ASN][1000 genomes]
rs12206230	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209234	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213022	0.87[GIH][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196232	1.00[ASN][1000 genomes]
rs13202324	1.00[ASN][1000 genomes]
rs13209186	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17274714	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234636	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34669476	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34910355	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35251058	1.00[ASN][1000 genomes]
rs35458062	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35565840	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940054	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62387165	1.00[ASN][1000 genomes]
rs9504426	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12204218	CDYL	cis	cerebellum	SCAN
rs12204218	SLC22A23	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5466400-5518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:5488600-5521600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:5500400-5525000	Weak transcription	Spleen	Spleen
4	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
5	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:5508200-5516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:5508200-5519400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:5508400-5516400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:5508600-5517200	Weak transcription	Primary T cells from cord blood	blood
10	chr6:5509000-5513800	Weak transcription	GM12878-XiMat	blood
11	chr6:5509000-5515000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:5509000-5517200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:5509000-5519400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:5509000-5521000	Weak transcription	Fetal Thymus	thymus
15	chr6:5509000-5524400	Weak transcription	Primary B cells from cord blood	blood
16	chr6:5509600-5527400	Weak transcription	Lung	lung
17	chr6:5510600-5518200	Weak transcription	Fetal Heart	heart
18	chr6:5511000-5514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:5511200-5514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
21	chr6:5511400-5516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:5511400-5518200	Weak transcription	Gastric	stomach
23	chr6:5511400-5518200	Weak transcription	Right Ventricle	heart
24	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
25	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
26	chr6:5511800-5513600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:5511800-5514200	Enhancers	K562	blood
28	chr6:5511800-5515200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:5512000-5517200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:5512200-5514200	Enhancers	Stomach Mucosa	stomach
31	chr6:5512200-5514600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:5512200-5514600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:5512400-5517200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:5512600-5524800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:5512600-5525200	Weak transcription	HSMMtube	muscle
36	chr6:5512800-5513800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:5513000-5514400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:5513000-5514600	Weak transcription	Osteobl	bone
39	chr6:5513000-5519200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:5513200-5514000	Enhancers	Left Ventricle	heart
41	chr6:5513400-5514000	Enhancers	Brain Anterior Caudate	brain
42	chr6:5513400-5514200	Enhancers	Fetal Brain Male	brain

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