Variant report

Variant	rs9515267
Chromosome Location	chr13:111332848-111332849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:111332840-111332990	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111332795..111333429-chr13:111365730..111366453,2	K562	blood:
2	chr13:111331878..111333857-chr13:111363101..111365113,2	MCF-7	breast:
3	chr13:111331059..111333327-chr13:111365310..111368139,4	MCF-7	breast:
4	chr13:111332786..111335109-chr13:111356617..111359801,4	MCF-7	breast:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11619800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119480	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs369788	0.81[ASN][1000 genomes]
rs378399	0.82[ASN][1000 genomes]
rs4000216	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs401084	0.82[ASN][1000 genomes]
rs418935	0.82[ASN][1000 genomes]
rs4595659	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4771705	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4773237	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492297	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7317796	0.82[ASN][1000 genomes]
rs7320005	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7491363	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7985542	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7998328	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7998588	0.96[ASN][1000 genomes]
rs9515266	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9515269	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521884	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9521885	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9521890	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9521902	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9555723	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9559858	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9645874	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
9	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
10	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv901013	chr13:111291192-111340342	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
13	esv1819597	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1824622	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1818673	chr13:111329426-111343888	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9515267	CARS2	Cis_1M	lymphoblastoid	RTeQTL
rs9515267	CARKD	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
2	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
3	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111319400-111337600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:111319800-111348400	Weak transcription	Fetal Brain Male	brain
8	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
9	chr13:111320200-111339200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:111322800-111333800	Weak transcription	Fetal Kidney	kidney
11	chr13:111322800-111349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:111327800-111336000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:111327800-111344200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:111327800-111347400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:111328000-111333200	Strong transcription	NHLF	lung
17	chr13:111328000-111335200	Strong transcription	Brain Cingulate Gyrus	brain
18	chr13:111328000-111335200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr13:111328000-111335400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:111328000-111335400	Strong transcription	HepG2	liver
21	chr13:111328000-111335600	Strong transcription	Liver	Liver
22	chr13:111328000-111335600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr13:111328000-111336000	Strong transcription	Fetal Intestine Large	intestine
24	chr13:111328000-111336600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr13:111328000-111336800	Strong transcription	Left Ventricle	heart
26	chr13:111328000-111337800	Strong transcription	Brain Germinal Matrix	brain
27	chr13:111328000-111338200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:111328000-111339800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:111328000-111340200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:111328000-111341000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:111328000-111342400	Strong transcription	Fetal Muscle Leg	muscle
32	chr13:111328000-111342400	Strong transcription	Osteobl	bone
33	chr13:111328000-111342800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr13:111328000-111343200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:111328000-111343400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:111328000-111343400	Strong transcription	Adipose Nuclei	Adipose
37	chr13:111328000-111343400	Strong transcription	Fetal Brain Female	brain
38	chr13:111328000-111343600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr13:111328000-111344200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:111328000-111344200	Strong transcription	Primary T cells from cord blood	blood
41	chr13:111328000-111344200	Strong transcription	Dnd41	blood
42	chr13:111328000-111347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr13:111328000-111354000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:111328000-111354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:111328000-111356600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:111328200-111335400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr13:111328200-111336000	Strong transcription	Fetal Intestine Small	intestine
48	chr13:111328200-111336800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr13:111328200-111340600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:111328200-111340600	Strong transcription	Aorta	Aorta

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