Variant report

Variant	rs11758372
Chromosome Location	chr6:25959355-25959356
allele	A/C/G/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	TRIM28	chr6:25958790-25959534	K562	blood:	n/a	n/a
2	KAP1	chr6:25958819-25959872	K562	blood:	n/a	n/a
3	CBX3	chr6:25959031-25959520	K562	blood:	n/a	n/a
4	RCOR1	chr6:25958846-25959356	K562	blood:	n/a	n/a
5	GTF2F1	chr6:25959246-25959365	Hela-S3	cervix:	n/a	n/a
6	SETDB1	chr6:25958702-25959912	U2OS	brain:	n/a	n/a
7	SETDB1	chr6:25958980-25960685	K562	blood:	n/a	n/a
8	YY1	chr6:25959035-25959443	K562	blood:	n/a	n/a
9	KAP1	chr6:25958851-25959737	HEK293	kidney:	n/a	n/a
10	CBX3	chr6:25958771-25959622	K562	blood:	n/a	n/a

Variant related genes	Relation type
TRIM38	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10484431	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap]
rs10484434	0.82[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11751732	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11755492	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11756659	1.00[ASN][1000 genomes]
rs11757088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11759668	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11964886	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11969868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16891142	1.00[JPT][hapmap]
rs17531978	0.82[ASW][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17596719	0.82[ASW][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1800758	1.00[CHB][hapmap]
rs185635	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs199728	0.95[EUR][1000 genomes]
rs199729	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs199730	0.95[EUR][1000 genomes]
rs199738	1.00[CEU][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs2051538	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2071302	1.00[JPT][hapmap]
rs2181802	1.00[YRI][hapmap]
rs2230654	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2275906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2575170	0.89[EUR][1000 genomes]
rs412968	0.95[EUR][1000 genomes]
rs4141885	1.00[YRI][hapmap]
rs62000984	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62394537	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62394540	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6906460	1.00[JPT][hapmap]
rs6925912	1.00[JPT][hapmap]
rs7746105	1.00[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7757646	1.00[JPT][hapmap]
rs9358908	1.00[YRI][hapmap]
rs9689245	0.87[CHD][hapmap];1.00[JPT][hapmap]

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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers 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	1166 gene(s)	inside rSNPs	diseases
7	esv2755446	chr6:25924513-25981648	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv432857	chr6:25957109-26072445	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	451 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11758372	TRIM38	Cis_1M	lymphoblastoid	RTeQTL
rs11758372	ZNF193	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25956000-25963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:25958400-25959400	Enhancers	GM12878-XiMat	blood
3	chr6:25958400-25962200	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:25958600-25959600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:25958600-25959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:25958600-25960400	Enhancers	HMEC	breast
7	chr6:25958600-25960600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:25958600-25962000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:25958800-25959400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:25958800-25959800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr6:25958800-25960000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:25958800-25960600	Enhancers	NHEK	skin
13	chr6:25958800-25961800	Enhancers	Primary B cells from cord blood	blood
14	chr6:25959000-25959400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:25959000-25959400	Enhancers	Spleen	Spleen
16	chr6:25959000-25959400	Flanking Active TSS	K562	blood
17	chr6:25959000-25959600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:25959000-25959600	Enhancers	HSMM	muscle
19	chr6:25959000-25959800	Enhancers	Primary T cells from cord blood	blood
20	chr6:25959000-25959800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr6:25959000-25959800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr6:25959000-25960000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:25959000-25960000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:25959000-25960000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:25959000-25960000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:25959000-25960400	ZNF genes & repeats	HepG2	liver
27	chr6:25959000-25960600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:25959000-25960600	Enhancers	HSMMtube	muscle
29	chr6:25959000-25961800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:25959000-25962200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:25959200-25959400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:25959200-25959600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:25959200-25959600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr6:25959200-25960200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:25959200-25961600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:25959200-25961600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:25959200-25961800	Weak transcription	HUVEC	blood vessel
38	chr6:25959200-25962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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