Variant report

Variant	rs6911562
Chromosome Location	chr6:11739127-11739128
allele	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	SPI1	chr6:11738950-11739318	HL-60	blood:	n/a	chr6:11739279-11739292
2	CEBPB	chr6:11739062-11739304	Hela-S3	cervix:	n/a	chr6:11739180-11739191
3	CEBPB	chr6:11738992-11739373	K562	blood:	n/a	chr6:11739180-11739191
4	JUND	chr6:11739125-11739223	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr6:11739106-11739330	K562	blood:	n/a	chr6:11739275-11739289 chr6:11739177-11739191
6	ZNF384	chr6:11739068-11739366	K562	blood:	n/a	chr6:11739332-11739340
7	CEBPB	chr6:11739122-11739266	A549	lung:	n/a	chr6:11739180-11739191
8	JUND	chr6:11739009-11739371	K562	blood:	n/a	chr6:11739039-11739048
9	CEBPB	chr6:11739033-11739327	H1-hESC	embryonic stem cell:	n/a	chr6:11739180-11739191
10	CEBPB	chr6:11739049-11739349	HepG2	liver:	n/a	chr6:11739180-11739191
11	CEBPB	chr6:11739009-11739311	K562	blood:	n/a	chr6:11739180-11739191
12	CEBPB	chr6:11739023-11739345	IMR90	lung:	n/a	chr6:11739180-11739191
13	MAX	chr6:11739099-11739239	NB4	blood:	n/a	chr6:11739180-11739189
14	CEBPB	chr6:11739003-11739328	K562	blood:	n/a	chr6:11739180-11739191
15	JUND	chr6:11739035-11739333	HepG2	liver:	n/a	chr6:11739039-11739048
16	ATF3	chr6:11739061-11739373	K562	blood:	n/a	n/a
17	MYC	chr6:11739074-11739303	K562	blood:	n/a	chr6:11739180-11739189

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11737947..11739936-chr6:11767756..11769331,2	MCF-7	breast:

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12189748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12198491	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12211506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2013368	0.88[YRI][hapmap]
rs210901	0.93[YRI][hapmap]
rs210925	0.85[CHB][hapmap]
rs2235396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2235397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2235411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2235420	0.88[YRI][hapmap]
rs3734273	0.88[YRI][hapmap]
rs4713852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6457825	0.85[CHB][hapmap]
rs6908760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6938865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs926364	0.88[YRI][hapmap]
rs932343	0.88[YRI][hapmap]
rs9368866	0.85[CHB][hapmap]
rs9380503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9394295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9462058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9469947	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9469963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11723600-11744200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:11726400-11744600	Weak transcription	Right Atrium	heart
5	chr6:11732400-11744800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:11732600-11740000	Weak transcription	Psoas Muscle	Psoas
8	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:11733000-11741400	Weak transcription	HSMM	muscle
10	chr6:11734600-11745000	Weak transcription	HSMMtube	muscle
11	chr6:11735200-11744600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:11735600-11743200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:11736000-11741000	Weak transcription	GM12878-XiMat	blood
15	chr6:11736200-11744600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:11736200-11752400	Weak transcription	NHEK	skin
17	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:11736600-11750600	Weak transcription	Stomach Mucosa	stomach
19	chr6:11737000-11739200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:11737200-11739800	Weak transcription	K562	blood
21	chr6:11737600-11744800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:11738000-11739400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:11738000-11743200	Weak transcription	Ovary	ovary
24	chr6:11738000-11743800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:11738200-11739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:11738400-11739200	Enhancers	Adipose Nuclei	Adipose
27	chr6:11738400-11739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:11738400-11739800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:11738600-11739400	Enhancers	Fetal Kidney	kidney
30	chr6:11738600-11762000	Weak transcription	Gastric	stomach
31	chr6:11738800-11739200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:11738800-11739200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:11738800-11739200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr6:11738800-11739400	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:11738800-11739600	Enhancers	Small Intestine	intestine
36	chr6:11738800-11743600	Weak transcription	Pancreas	Pancrea
37	chr6:11739000-11742400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:11739000-11755000	Weak transcription	HMEC	breast

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