Variant report

Variant	rs7755741
Chromosome Location	chr6:26337264-26337265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26285243..26287607-chr6:26335605..26337289,2	MCF-7	breast:
2	chr6:26336805..26339023-chr6:26339169..26341807,3	MCF-7	breast:
3	chr6:26335854..26338260-chr6:26521210..26523383,2	K562	blood:
4	chr6:26336354..26338336-chr6:26594777..26597675,2	K562	blood:
5	chr6:26332412..26338207-chr6:26594644..26597899,6	K562	blood:
6	chr6:26336969..26339316-chr6:26536636..26539094,2	K562	blood:
7	chr6:26335002..26338978-chr6:27114071..27116381,5	K562	blood:

Variant related genes	Relation type
ENSG00000228223	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1053860	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs10946808	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs10946810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11751978	0.91[JPT][hapmap]
rs11752014	0.91[JPT][hapmap]
rs11755943	0.82[JPT][hapmap]
rs11759682	0.82[JPT][hapmap]
rs11759720	0.82[JPT][hapmap]
rs12660432	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12661552	0.88[EUR][1000 genomes]
rs12665035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13210340	0.85[ASN][1000 genomes]
rs16891523	0.91[JPT][hapmap]
rs16891525	0.91[JPT][hapmap]
rs17608582	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1883213	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs1883214	0.91[JPT][hapmap]
rs1987244	0.90[EUR][1000 genomes]
rs1997768	0.82[JPT][hapmap]
rs2072802	1.00[YRI][hapmap]
rs2073526	1.00[YRI][hapmap]
rs2393649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893820	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs2893842	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][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]
rs2893843	0.91[JPT][hapmap]
rs3734533	0.82[JPT][hapmap]
rs3778279	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs3823157	0.82[JPT][hapmap]
rs4141885	1.00[YRI][hapmap]
rs4412193	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs4631273	0.91[JPT][hapmap]
rs56763414	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61324092	0.90[EUR][1000 genomes]
rs61534839	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62394764	0.91[EUR][1000 genomes]
rs62394768	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62394769	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901243	0.82[JPT][hapmap]
rs6914596	0.91[JPT][hapmap]
rs6918325	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930616	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs6932584	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs725575	0.91[EUR][1000 genomes]
rs9348708	0.81[AMR][1000 genomes]
rs9358908	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs9358913	0.89[MKK][hapmap];1.00[YRI][hapmap]
rs9358914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9358924	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9358925	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9358926	0.96[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9358927	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs9366648	0.87[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs9379842	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs9379845	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9379846	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9393691	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs989133	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994379	0.88[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
7	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3521788	chr6:26334022-26356973	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3521789	chr6:26334022-26356973	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7755741	ACOT13	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26333000-26341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26333000-26342200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26335600-26337400	Enhancers	HepG2	liver
4	chr6:26335600-26337600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:26335800-26337400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:26335800-26337400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:26335800-26337600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:26335800-26337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:26336000-26337400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:26336000-26337400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:26336000-26337400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr6:26336000-26337400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:26336000-26337400	Enhancers	Dnd41	blood
14	chr6:26336000-26337400	Enhancers	NHDF-Ad	bronchial
15	chr6:26336000-26337400	Enhancers	Osteobl	bone
16	chr6:26336000-26337600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:26336000-26337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:26336200-26337400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr6:26336200-26337400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:26336200-26337400	Enhancers	HSMM	muscle
21	chr6:26336200-26337600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:26336200-26337600	Flanking Active TSS	K562	blood
23	chr6:26336200-26337600	Enhancers	NHLF	lung
24	chr6:26336200-26338600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:26336200-26341800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:26336400-26337400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:26336400-26337400	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:26336400-26337400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:26336400-26337600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:26336400-26337600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:26336400-26337600	Flanking Active TSS	Hela-S3	cervix
32	chr6:26336400-26337600	Enhancers	HUVEC	blood vessel
33	chr6:26336400-26337800	Enhancers	HMEC	breast
34	chr6:26336600-26337400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:26336600-26337400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:26336600-26337400	Flanking Active TSS	GM12878-XiMat	blood
37	chr6:26336800-26337400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:26336800-26337400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:26336800-26337400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:26336800-26337600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:26337000-26337400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:26337000-26337400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr6:26337000-26341400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:26337000-26341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:26337000-26342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:26337200-26337400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:26337200-26337400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:26337200-26337400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:26337200-26337400	Enhancers	Small Intestine	intestine
50	chr6:26337200-26337400	Enhancers	NH-A	brain

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