Variant report

Variant	rs573704933
Chromosome Location	chr11:67033486-67033487
allele	A/G
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	MXI1	chr11:67033336-67035801	IMR90	lung:	n/a	n/a
2	MAX	chr11:67033444-67033837	GM12878	blood:	n/a	n/a
3	RAD21	chr11:67033451-67033976	MCF-7	breast:	n/a	chr11:67033804-67033823 chr11:67033809-67033821 chr11:67033809-67033819 chr11:67033807-67033820 chr11:67033805-67033819
4	RCOR1	chr11:67033426-67033686	K562	blood:	n/a	n/a
5	CTCF	chr11:67033099-67034068	A549	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
6	NR2F2	chr11:67033079-67034068	MCF-7	breast:	n/a	n/a
7	NR2F2	chr11:67033319-67033912	K562	blood:	n/a	n/a
8	MAX	chr11:67033374-67034468	A549	lung:	n/a	n/a
9	CTCF	chr11:67033480-67033630	GM12864	blood:	n/a	n/a
10	STAT5A	chr11:67032956-67033829	GM12878	blood:	n/a	n/a
11	RUNX3	chr11:67033123-67033975	GM12878	blood:	n/a	n/a
12	RAD21	chr11:67033360-67033982	HCT-116	colon:	n/a	chr11:67033804-67033823 chr11:67033809-67033821 chr11:67033809-67033819 chr11:67033807-67033820 chr11:67033805-67033819
13	PML	chr11:67033183-67033739	GM12878	blood:	n/a	n/a
14	TCF12	chr11:67033454-67034027	ECC-1	luminal epithelium:	n/a	n/a
15	HCFC1	chr11:67033056-67034902	Hela-S3	cervix:	n/a	n/a
16	GTF2F1	chr11:67033466-67033862	K562	blood:	n/a	n/a
17	NR2F2	chr11:67033433-67034077	MCF-7	breast:	n/a	n/a
18	RAD21	chr11:67033406-67033965	GM12878	blood:	n/a	chr11:67033804-67033823 chr11:67033809-67033821 chr11:67033809-67033819 chr11:67033807-67033820 chr11:67033805-67033819
19	CTCF	chr11:67033460-67033610	GM12878	blood:	n/a	n/a
20	CTCF	chr11:67033480-67033630	HRE	kidney:	n/a	n/a
21	RAD21	chr11:67033394-67034011	HCT-116	colon:	n/a	chr11:67033804-67033823 chr11:67033809-67033821 chr11:67033809-67033819 chr11:67033807-67033820 chr11:67033805-67033819
22	SMC3	chr11:67033190-67034071	SK-N-SH	brain:	n/a	chr11:67033809-67033819 chr11:67033805-67033819
23	TAF1	chr11:67033442-67033902	PFSK-1	brain:	n/a	n/a
24	RAD21	chr11:67033216-67034083	SK-N-SH	brain:	n/a	chr11:67033804-67033823 chr11:67033809-67033821 chr11:67033809-67033819 chr11:67033807-67033820 chr11:67033805-67033819
25	ZBTB7A	chr11:67033417-67033898	ECC-1	luminal epithelium:	n/a	chr11:67033811-67033820
26	RUNX3	chr11:67033483-67033921	GM12878	blood:	n/a	n/a
27	CTCF	chr11:67033116-67034588	SK-N-SH	brain:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
28	MAZ	chr11:67033345-67034530	IMR90	lung:	n/a	n/a
29	MTA3	chr11:67033132-67033961	GM12878	blood:	n/a	n/a
30	YY1	chr11:67033478-67035336	HepG2	liver:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962

No.	Distal block	Cell Line	Cell type
1	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
2	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
5	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
6	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
7	chr11:67033435..67034183-chr11:67056208..67056959,2	K562	blood:
8	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	esv3419864	chr11:67031976-67036274	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
12	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
13	esv3376740	chr11:67033176-67035299	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028600-67033600	Enhancers	HMEC	breast
3	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
5	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
6	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
7	chr11:67029800-67033600	Enhancers	Fetal Thymus	thymus
8	chr11:67029800-67034000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:67030600-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:67030600-67034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:67030800-67033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:67030800-67033600	Weak transcription	Right Atrium	heart
13	chr11:67030800-67034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:67031000-67033600	Weak transcription	HUVEC	blood vessel
15	chr11:67031000-67034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:67031000-67034000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:67031000-67034200	Weak transcription	Gastric	stomach
18	chr11:67031400-67033600	Weak transcription	HSMM	muscle
19	chr11:67032600-67033600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:67032600-67033600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:67032600-67033600	Enhancers	NHLF	lung
22	chr11:67032800-67034000	Enhancers	Fetal Brain Male	brain
23	chr11:67033000-67033600	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:67033000-67033600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:67033200-67033600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr11:67033200-67033600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:67033200-67033600	Enhancers	Primary T cells from cord blood	blood
28	chr11:67033200-67033600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:67033200-67033600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:67033200-67033600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:67033200-67033600	Enhancers	Fetal Intestine Large	intestine
32	chr11:67033200-67033600	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:67033200-67033600	Enhancers	Ovary	ovary
34	chr11:67033200-67033600	Enhancers	Pancreas	Pancrea
35	chr11:67033200-67033600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:67033200-67033600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:67033200-67033600	Enhancers	Right Ventricle	heart
38	chr11:67033200-67033600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:67033200-67033800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:67033200-67033800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr11:67033200-67033800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:67033200-67033800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:67033200-67033800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:67033200-67033800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:67033200-67033800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:67033200-67033800	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr11:67033200-67033800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:67033200-67033800	Flanking Active TSS	Fetal Brain Female	brain
49	chr11:67033200-67033800	Enhancers	Fetal Heart	heart
50	chr11:67033200-67033800	Enhancers	Lung	lung

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