Variant report

Variant	rs58568715
Chromosome Location	chr11:65662985-65662986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65661660..65664635-chr11:65790065..65792086,2	K562	blood:
2	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
3	chr11:65541575..65543140-chr11:65661807..65663676,2	K562	blood:
4	chr11:65564975..65566477-chr11:65661433..65663002,2	K562	blood:
5	chr11:65537505..65539315-chr11:65661843..65663867,2	MCF-7	breast:
6	chr11:64509223..64512126-chr11:65661954..65663646,2	K562	blood:

Variant related genes	Relation type
ENSG00000068831	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10791830	0.88[EUR][1000 genomes]
rs11227333	0.83[EUR][1000 genomes]
rs1151519	0.82[EUR][1000 genomes]
rs1204650	0.82[EUR][1000 genomes]
rs12225345	0.91[EUR][1000 genomes]
rs17854357	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2231884	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs507062	0.86[EUR][1000 genomes]
rs568617	0.83[EUR][1000 genomes]
rs583887	0.81[EUR][1000 genomes]
rs585557	0.83[EUR][1000 genomes]
rs588114	0.86[EUR][1000 genomes]
rs596002	0.81[EUR][1000 genomes]
rs601863	0.82[EUR][1000 genomes]
rs608616	0.81[EUR][1000 genomes]
rs622614	0.83[EUR][1000 genomes]
rs641018	0.84[EUR][1000 genomes]
rs645900	0.82[EUR][1000 genomes]
rs656980	0.84[EUR][1000 genomes]
rs658524	0.82[EUR][1000 genomes]
rs658938	0.83[EUR][1000 genomes]
rs677931	0.83[EUR][1000 genomes]
rs687672	0.83[EUR][1000 genomes]
rs693824	0.83[EUR][1000 genomes]
rs694994	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs58568715	CTSW	Cis_1M	lymphoblastoid	RTeQTL
rs58568715	SNX32	cis	Nerve Tibial	GTEx
rs58568715	SNX32	cis	Skin Sun Exposed Lower leg	GTEx
rs58568715	CTSW	cis	Whole Blood	GTEx
rs58568715	SNX32	cis	Esophagus Muscularis	GTEx
rs58568715	CTSW	cis	Artery Aorta	GTEx
rs58568715	SNX32	cis	Adipose Subcutaneous	GTEx
rs58568715	SNX32	cis	Esophagus Mucosa	GTEx
rs58568715	SNX32	cis	Artery Tibial	GTEx
rs58568715	SNX32	cis	Stomach	GTEx
rs58568715	SNX32	cis	Thyroid	GTEx
rs58568715	SNX32	cis	Artery Aorta	GTEx
rs58568715	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs58568715	SNX32	cis	lung	GTEx
rs58568715	CTSW	cis	Esophagus Mucosa	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65659800-65665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:65659800-65665800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:65660200-65665800	Genic enhancers	K562	blood
4	chr11:65660600-65666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65660600-65666600	Weak transcription	Pancreas	Pancrea
6	chr11:65660800-65663000	Genic enhancers	Osteobl	bone
7	chr11:65661200-65663200	Weak transcription	Psoas Muscle	Psoas
8	chr11:65661200-65666600	Weak transcription	Small Intestine	intestine
9	chr11:65661400-65666400	Weak transcription	Stomach Mucosa	stomach
10	chr11:65661600-65663000	Genic enhancers	NHEK	skin
11	chr11:65661600-65663800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:65661800-65663000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:65661800-65663000	Weak transcription	HepG2	liver
14	chr11:65661800-65663200	Genic enhancers	HMEC	breast
15	chr11:65661800-65663600	Weak transcription	Lung	lung
16	chr11:65661800-65664800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65661800-65666600	Weak transcription	Right Atrium	heart
18	chr11:65662000-65663000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:65662000-65663000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:65662000-65663000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:65662000-65663000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:65662000-65663000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:65662000-65663000	Weak transcription	Right Ventricle	heart
24	chr11:65662000-65663000	Weak transcription	A549	lung
25	chr11:65662000-65663000	Weak transcription	Hela-S3	cervix
26	chr11:65662000-65663000	Strong transcription	NH-A	brain
27	chr11:65662000-65663200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:65662000-65663200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:65662000-65664600	Genic enhancers	HUVEC	blood vessel
30	chr11:65662000-65665200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:65662000-65665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:65662000-65666000	Weak transcription	Adipose Nuclei	Adipose
33	chr11:65662000-65666000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:65662000-65666000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:65662000-65666400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:65662000-65666400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:65662000-65666400	Weak transcription	Esophagus	oesophagus
38	chr11:65662000-65666400	Weak transcription	Placenta	Placenta
39	chr11:65662000-65666400	Weak transcription	Spleen	Spleen
40	chr11:65662000-65666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:65662200-65663000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65662200-65663200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:65662200-65663400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65662200-65663600	Weak transcription	GM12878-XiMat	blood
45	chr11:65662200-65663800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:65662200-65665800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:65662200-65665800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:65662200-65666200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:65662200-65666200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:65662200-65666200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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