Variant report

Variant	rs9536211
Chromosome Location	chr13:53217035-53217036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
2	chr13:53215104..53218356-chr13:53226198..53228845,3	K562	blood:
3	chr13:53215104..53217509-chr13:53226480..53228845,2	K562	blood:

Variant related genes	Relation type
ENSG00000165416	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1057478	0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11616261	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11616459	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11617331	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1924036	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2038826	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147676	1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2147692	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2575960	0.92[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs342768	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs342770	0.91[ASN][1000 genomes]
rs3742297	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4284531	0.86[JPT][hapmap]
rs4301905	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4335671	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4884235	0.92[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4885325	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs616969	0.89[ASN][1000 genomes]
rs61958118	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561671	0.89[ASN][1000 genomes]
rs6561675	0.93[ASN][1000 genomes]
rs7139495	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7139630	0.92[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7324427	0.86[ASN][1000 genomes]
rs7328729	0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs7334137	0.92[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs7334677	0.92[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs7336771	0.93[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7337021	0.89[ASN][1000 genomes]
rs7399901	0.90[ASN][1000 genomes]
rs7997186	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7999849	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526951	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526968	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526974	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526975	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526982	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9536104	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs9536197	0.89[ASN][1000 genomes]
rs9536200	0.82[ASN][1000 genomes]
rs9536202	0.95[ASN][1000 genomes]
rs9536212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536217	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9536219	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9536220	0.82[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs9536223	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536236	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9536247	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9536262	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9563113	0.92[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs9563114	0.92[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs9568750	0.88[ASN][1000 genomes]
rs9568751	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised 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	20 gene(s)	inside rSNPs	diseases
10	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv976119	chr13:53176029-53218496	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9536211	CKAP2	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53192000-53224800	Weak transcription	Small Intestine	intestine
2	chr13:53192000-53225000	Weak transcription	Spleen	Spleen
3	chr13:53192200-53224200	Weak transcription	Esophagus	oesophagus
4	chr13:53192200-53224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:53192200-53224800	Weak transcription	Gastric	stomach
6	chr13:53192200-53224800	Weak transcription	Pancreas	Pancrea
7	chr13:53192200-53224800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:53192400-53223400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:53192400-53224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:53192400-53224800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:53192400-53225000	Weak transcription	Right Ventricle	heart
12	chr13:53192400-53225800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:53192600-53223400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:53192600-53224600	Weak transcription	K562	blood
15	chr13:53192600-53224800	Weak transcription	Fetal Brain Male	brain
16	chr13:53192600-53225000	Weak transcription	Osteobl	bone
17	chr13:53192800-53224200	Weak transcription	Hela-S3	cervix
18	chr13:53192800-53224400	Weak transcription	Fetal Heart	heart
19	chr13:53192800-53224800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr13:53192800-53224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:53192800-53224800	Weak transcription	Brain Angular Gyrus	brain
22	chr13:53193000-53224600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:53193000-53224600	Weak transcription	HepG2	liver
24	chr13:53193000-53225000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:53195000-53224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:53198600-53225000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:53200200-53225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:53203400-53225400	Weak transcription	Aorta	Aorta
29	chr13:53203800-53220200	Weak transcription	NHEK	skin
30	chr13:53204200-53223400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:53204200-53225000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr13:53204200-53225000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:53204400-53220200	Weak transcription	HMEC	breast
34	chr13:53204400-53223400	Weak transcription	Adipose Nuclei	Adipose
35	chr13:53204400-53224800	Weak transcription	NHLF	lung
36	chr13:53204600-53223600	Weak transcription	Lung	lung
37	chr13:53204600-53226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:53205200-53225000	Weak transcription	A549	lung
39	chr13:53205800-53225000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr13:53205800-53225600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr13:53207200-53223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:53207200-53223600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:53207200-53224400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr13:53207200-53224600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:53207200-53224800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr13:53207400-53218000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:53207400-53222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:53207400-53224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:53207400-53224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:53207400-53224800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links