Variant report

Variant	rs72930984
Chromosome Location	chr11:65778922-65778923
allele	C/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	POLR2A	chr11:65778719-65779876	HCT-116	colon:	n/a	n/a
2	MAX	chr11:65778662-65780019	HCT-116	colon:	n/a	n/a
3	FOS	chr11:65778705-65779156	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF12	chr11:65778716-65779760	ECC-1	luminal epithelium:	n/a	chr11:65779285-65779292
5	MAX	chr11:65778669-65779820	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr11:65778666-65779714	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr11:65778569-65780136	HCT-116	colon:	n/a	n/a
8	STAT3	chr11:65778807-65779027	MCF10A-Er-Src	breast:	n/a	n/a
9	TEAD4	chr11:65778665-65779575	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr11:65778720-65779253	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:65778731-65779305	HCT-116	colon:	n/a	n/a
12	EP300	chr11:65778483-65779710	ECC-1	luminal epithelium:	n/a	chr11:65779397-65779413 chr11:65779332-65779341
13	TEAD4	chr11:65778729-65779276	HCT-116	colon:	n/a	n/a
14	MAX	chr11:65778683-65779779	ECC-1	luminal epithelium:	n/a	n/a
15	ZBTB7A	chr11:65778794-65779720	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr11:65778719-65779063	ECC-1	luminal epithelium:	n/a	n/a
17	SRF	chr11:65778671-65779183	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:65778721-65779273	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF263	chr11:65778851-65779118	HEK293-T-REx	kidney:	n/a	n/a
20	ESR1	chr11:65778602-65779173	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr11:65778711-65779528	ECC-1	luminal epithelium:	n/a	n/a
22	EP300	chr11:65778734-65779597	ECC-1	luminal epithelium:	n/a	chr11:65779397-65779413 chr11:65779332-65779341
23	FOS	chr11:65778717-65779105	MCF10A-Er-Src	breast:	n/a	n/a
24	TEAD4	chr11:65778732-65779121	HCT-116	colon:	n/a	n/a
25	FOXM1	chr11:65778682-65779494	ECC-1	luminal epithelium:	n/a	n/a
26	STAT3	chr11:65778749-65779123	MCF10A-Er-Src	breast:	n/a	n/a
27	ESR1	chr11:65778649-65779542	ECC-1	luminal epithelium:	n/a	n/a
28	TCF12	chr11:65778485-65779675	ECC-1	luminal epithelium:	n/a	chr11:65779285-65779292
29	MYC	chr11:65778748-65779056	MCF10A-Er-Src	breast:	n/a	n/a
30	JUND	chr11:65778843-65779252	H1-hESC	embryonic stem cell:	n/a	chr11:65778953-65778964
31	FOS	chr11:65778794-65779110	MCF10A-Er-Src	breast:	n/a	n/a
32	NFIC	chr11:65778568-65779546	ECC-1	luminal epithelium:	n/a	n/a
33	MYC	chr11:65778743-65779091	MCF10A-Er-Src	breast:	n/a	n/a
34	ESR1	chr11:65778802-65779083	ECC-1	luminal epithelium:	n/a	n/a
35	STAT3	chr11:65778911-65779097	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:65778739-65779127	MCF10A-Er-Src	breast:	n/a	n/a
37	TEAD4	chr11:65778763-65779083	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr11:65778662-65779638	ECC-1	luminal epithelium:	n/a	n/a
39	STAT3	chr11:65778741-65779123	MCF10A-Er-Src	breast:	n/a	n/a
40	YY1	chr11:65778882-65779232	HCT-116	colon:	n/a	n/a
41	YY1	chr11:65778755-65779642	ECC-1	luminal epithelium:	n/a	chr11:65779332-65779341 chr11:65779458-65779469 chr11:65779403-65779417 chr11:65779332-65779346 chr11:65779406-65779415

No.	Distal block	Cell Line	Cell type
1	chr11:65778738..65782540-chr11:65791690..65794306,3	MCF-7	breast:
2	chr11:65727748..65729468-chr11:65777688..65780268,2	MCF-7	breast:
3	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
4	chr11:65624293..65627593-chr11:65778197..65781174,3	MCF-7	breast:
5	chr11:65188418..65191702-chr11:65777424..65780862,3	MCF-7	breast:
6	chr11:65650838..65654244-chr11:65778689..65782514,4	MCF-7	breast:
7	chr11:65655400..65657605-chr11:65778805..65780715,2	MCF-7	breast:

Variant related genes	Relation type
CST6	TF binding region
ENSG00000245532	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12574568	0.85[EUR][1000 genomes]
rs12576095	0.85[EUR][1000 genomes]
rs12577165	0.85[EUR][1000 genomes]
rs2276017	0.85[EUR][1000 genomes]
rs2277305	0.85[EUR][1000 genomes]
rs3825068	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72926898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes]
rs72928851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928868	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72928884	0.85[EUR][1000 genomes]
rs72928892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928898	0.85[EUR][1000 genomes]
rs72928900	0.85[EUR][1000 genomes]
rs72930912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930914	0.85[EUR][1000 genomes]
rs72930933	0.85[EUR][1000 genomes]
rs72930942	0.85[EUR][1000 genomes]
rs72930945	0.81[EUR][1000 genomes]
rs72930951	0.85[EUR][1000 genomes]
rs72930952	0.85[EUR][1000 genomes]
rs72930956	0.85[EUR][1000 genomes]
rs72930958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930964	0.85[EUR][1000 genomes]
rs72930967	0.85[EUR][1000 genomes]
rs72930974	0.85[EUR][1000 genomes]
rs72930976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930985	0.90[EUR][1000 genomes]
rs73496466	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription 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	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
7	nsv825952	chr11:65776517-65779832	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65771000-65779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:65771000-65779000	Weak transcription	Aorta	Aorta
3	chr11:65771200-65779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:65771200-65779200	Weak transcription	Right Atrium	heart
5	chr11:65772200-65779200	Weak transcription	Gastric	stomach
6	chr11:65772200-65779400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:65772200-65779400	Weak transcription	Psoas Muscle	Psoas
8	chr11:65772800-65779200	Weak transcription	Right Ventricle	heart
9	chr11:65773200-65779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:65773200-65779200	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:65773400-65779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:65773400-65779000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:65773400-65779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:65773400-65779000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:65773400-65779400	Weak transcription	Ovary	ovary
16	chr11:65773400-65780200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:65773600-65779200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:65773800-65779000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:65774000-65779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:65774000-65779200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:65774400-65779200	Weak transcription	Lung	lung
22	chr11:65774600-65779000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:65774800-65780200	Weak transcription	Hela-S3	cervix
24	chr11:65775600-65780200	Weak transcription	K562	blood
25	chr11:65775800-65779400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:65776400-65779000	Weak transcription	Esophagus	oesophagus
27	chr11:65776800-65780600	Weak transcription	A549	lung
28	chr11:65776800-65781400	Weak transcription	HSMMtube	muscle
29	chr11:65777000-65780600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:65778000-65781000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:65778200-65779000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:65778200-65779000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:65778200-65779200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:65778200-65781000	Enhancers	HMEC	breast
35	chr11:65778200-65781600	Enhancers	Placenta	Placenta
36	chr11:65778400-65779000	Weak transcription	NH-A	brain
37	chr11:65778400-65779000	Enhancers	NHEK	skin
38	chr11:65778800-65779000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr11:65778800-65779000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:65778800-65779000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:65778800-65779000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:65778800-65779200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr11:65778800-65779200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:65778800-65779200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65778800-65779200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:65778800-65779200	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr11:65778800-65779200	Bivalent Enhancer	NHLF	lung
48	chr11:65778800-65779400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr11:65778800-65779600	Enhancers	Pancreas	Pancrea
50	chr11:65778800-65779600	Enhancers	Osteobl	bone

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