Variant report

Variant	rs4595659
Chromosome Location	chr13:111347060-111347061
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111345499..111348039-chr13:111356467..111358973,3	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11619800	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119480	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4000216	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4771705	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4773237	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6492297	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7320005	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7491363	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7985542	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998328	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7998588	1.00[ASN][1000 genomes]
rs9515266	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9515267	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9515269	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521884	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9521885	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9521890	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9521902	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555723	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9559858	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9645874	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4595659	CARS2	Cis_1M	lymphoblastoid	RTeQTL
rs4595659	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	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
2	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:111319800-111348400	Weak transcription	Fetal Brain Male	brain
6	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
7	chr13:111322800-111349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:111327800-111347400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:111328000-111347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:111328000-111354000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:111328000-111354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:111328000-111356600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:111328400-111355600	Strong transcription	NHEK	skin
15	chr13:111329000-111354800	Strong transcription	Fetal Stomach	stomach
16	chr13:111329200-111349200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:111330000-111355000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:111330400-111349400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr13:111330400-111355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:111330800-111349200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr13:111331800-111348200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr13:111332600-111356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:111333400-111350200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr13:111334400-111349400	Weak transcription	A549	lung
25	chr13:111334600-111351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:111334800-111351600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:111335400-111354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr13:111336600-111348200	Weak transcription	Colonic Mucosa	Colon
29	chr13:111336600-111349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:111336600-111349600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:111337000-111350200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:111337000-111355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:111337800-111353800	Weak transcription	K562	blood
34	chr13:111338200-111347400	Strong transcription	NHDF-Ad	bronchial
35	chr13:111338200-111351600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr13:111338400-111347600	Strong transcription	Fetal Intestine Small	intestine
37	chr13:111338600-111348200	Strong transcription	Fetal Intestine Large	intestine
38	chr13:111338600-111349200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr13:111339000-111351400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr13:111339400-111354600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:111339600-111349400	Weak transcription	Brain Angular Gyrus	brain
42	chr13:111339600-111351600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:111339600-111355400	Weak transcription	Small Intestine	intestine
44	chr13:111339800-111347200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:111339800-111349000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:111339800-111351400	Weak transcription	HUVEC	blood vessel
47	chr13:111340400-111350800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr13:111340600-111347400	Weak transcription	Ovary	ovary
49	chr13:111340600-111349200	Weak transcription	Aorta	Aorta
50	chr13:111340600-111349200	Weak transcription	Brain Substantia Nigra	brain

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