Variant report

Variant	rs575373982
Chromosome Location	chr11:66884958-66884959
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:66884877-66885461	GM12878	blood:	n/a	n/a
2	E2F4	chr11:66884870-66885022	MCF10A-Er-Src	breast:	n/a	n/a
3	SIN3AK20	chr11:66884940-66885505	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66884866..66886450-chr11:67007040..67008886,2	MCF-7	breast:
2	chr11:66884756..66886465-chr11:66946415..66948664,2	MCF-7	breast:
3	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
4	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
5	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:
6	chr11:66847793..66850553-chr11:66883657..66886437,2	MCF-7	breast:

No data

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv3412807	chr11:66884326-66888124	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3397435	chr11:66884601-66887149	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3400268	chr11:66884676-66888099	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3328460	chr11:66884901-66888249	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66879000-66885200	Weak transcription	Right Ventricle	heart
2	chr11:66879200-66885000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:66879200-66885000	Weak transcription	Right Atrium	heart
4	chr11:66879200-66885200	Weak transcription	Left Ventricle	heart
5	chr11:66879400-66885000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:66879600-66885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:66880400-66885000	Enhancers	Fetal Intestine Small	intestine
8	chr11:66880600-66885000	Enhancers	Fetal Intestine Large	intestine
9	chr11:66881000-66886800	Weak transcription	K562	blood
10	chr11:66881200-66885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66881200-66885000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:66881200-66885000	Weak transcription	Esophagus	oesophagus
13	chr11:66881200-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:66881200-66885200	Weak transcription	Dnd41	blood
15	chr11:66881400-66885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66881800-66885000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:66882000-66885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:66882200-66885000	Weak transcription	Colonic Mucosa	Colon
19	chr11:66882600-66885200	Enhancers	A549	lung
20	chr11:66882800-66885000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:66882800-66885000	Enhancers	Stomach Mucosa	stomach
22	chr11:66883200-66885000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:66883400-66885000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:66883600-66885000	Enhancers	Brain Hippocampus Middle	brain
25	chr11:66883600-66885000	Enhancers	Fetal Lung	lung
26	chr11:66883600-66885000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:66883600-66885000	Weak transcription	GM12878-XiMat	blood
28	chr11:66883600-66885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:66883600-66886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:66883800-66885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:66884000-66885200	Enhancers	Fetal Stomach	stomach
32	chr11:66884200-66885000	Bivalent Enhancer	Fetal Thymus	thymus
33	chr11:66884200-66885200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:66884200-66885400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:66884400-66885000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:66884400-66885000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:66884400-66885000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:66884400-66885000	Enhancers	Colon Smooth Muscle	Colon
39	chr11:66884400-66885000	Weak transcription	Gastric	stomach
40	chr11:66884400-66885000	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:66884400-66885400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:66884600-66885000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:66884600-66885000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr11:66884600-66885000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:66884600-66885000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:66884600-66885000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:66884600-66885000	Enhancers	Fetal Brain Male	brain
48	chr11:66884600-66885000	Flanking Active TSS	HepG2	liver
49	chr11:66884600-66885200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:66884600-66885200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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