Variant report

Variant	rs561365071
Chromosome Location	chr11:65553601-65553602
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr11:65553549-65554277	H1-hESC	embryonic stem cell:	n/a	chr11:65553982-65553991 chr11:65554032-65554044 chr11:65553984-65553994

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65552279..65555050-chr11:65558664..65561977,4	K562	blood:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65551696..65553777-chr11:65562013..65564216,2	K562	blood:
4	chr11:65338114..65341460-chr11:65551554..65554469,3	MCF-7	breast:
5	chr11:65553472..65554428-chr11:65585631..65586383,2	MCF-7	breast:
6	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:
7	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
8	chr11:65381741..65384368-chr11:65551453..65554074,4	MCF-7	breast:
9	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
10	chr11:65552282..65556398-chr11:65623209..65626538,5	MCF-7	breast:
11	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:

No data

Variant related genes	Relation type
OVOL1	TF binding region
ENSG00000176973	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000197136	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	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
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv897759	chr11:65543827-65554502	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv897760	chr11:65545306-65559266	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3321581	chr11:65552901-65555749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65549200-65554200	Weak transcription	Right Atrium	heart
2	chr11:65551200-65555600	Bivalent Enhancer	Fetal Thymus	thymus
3	chr11:65552000-65553800	Weak transcription	NHEK	skin
4	chr11:65552200-65553800	Weak transcription	HMEC	breast
5	chr11:65552600-65553800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:65552600-65553800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr11:65552600-65554000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr11:65552800-65553800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:65552800-65553800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr11:65552800-65554000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr11:65552800-65554000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:65552800-65554600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr11:65553000-65553800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:65553000-65554200	Bivalent Enhancer	GM12878-XiMat	blood
15	chr11:65553200-65553800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:65553200-65553800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr11:65553200-65554200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr11:65553400-65553800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:65553400-65553800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr11:65553400-65553800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:65553400-65553800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:65553400-65553800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:65553400-65553800	Flanking Active TSS	Esophagus	oesophagus
24	chr11:65553400-65553800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr11:65553400-65554000	Enhancers	Pancreas	Pancrea
26	chr11:65553400-65554600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:65553400-65554600	Enhancers	Gastric	stomach
28	chr11:65553400-65555200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:65553400-65555800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:65553400-65556400	Bivalent Enhancer	Spleen	Spleen
31	chr11:65553400-65557200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr11:65553600-65553800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:65553600-65553800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr11:65553600-65553800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:65553600-65553800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:65553600-65553800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:65553600-65553800	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr11:65553600-65553800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:65553600-65553800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
40	chr11:65553600-65553800	Active TSS	Right Ventricle	heart
41	chr11:65553600-65553800	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr11:65553600-65554000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr11:65553600-65554000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:65553600-65554000	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr11:65553600-65554000	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:65553600-65554000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr11:65553600-65554000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
48	chr11:65553600-65554000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr11:65553600-65554000	Bivalent Enhancer	Fetal Lung	lung
50	chr11:65553600-65554000	Flanking Bivalent TSS/Enh	Placenta	Placenta

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