Variant report

Variant	rs139287952
Chromosome Location	chr11:66113607-66113608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66113583-66113614	K562	blood:	n/a	n/a
2	HCFC1	chr11:66111716-66113965	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65625352..65628744-chr11:66111177..66113723,3	K562	blood:
2	chr11:66055270..66057597-chr11:66112530..66115409,2	K562	blood:
3	chr11:66035609..66037495-chr11:66113505..66115336,2	MCF-7	breast:
4	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
5	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
6	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
7	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
8	chr11:66111080..66113877-chr17:56707692..56710441,2	MCF-7	breast:
9	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
10	chr11:66033236..66035909-chr11:66113505..66116691,3	K562	blood:
11	chr11:66079011..66083261-chr11:66109999..66114385,7	MCF-7	breast:
12	chr11:66111992..66114342-chr11:66382242..66384308,3	MCF-7	breast:

No data

Variant related genes	Relation type
BRMS1	TF binding region
ENSG00000255468	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000179292	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv897785	chr11:66112574-66123043	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66111200-66115000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:66111600-66114600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:66112600-66114000	Flanking Active TSS	Fetal Brain Male	brain
4	chr11:66112600-66114200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:66112600-66114600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:66112600-66115000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:66112600-66115000	Flanking Active TSS	Dnd41	blood
8	chr11:66112800-66113800	Flanking Active TSS	Fetal Heart	heart
9	chr11:66112800-66114000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:66112800-66114000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr11:66112800-66114000	Flanking Active TSS	Hela-S3	cervix
12	chr11:66112800-66114200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:66112800-66114200	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr11:66112800-66114400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66112800-66114400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:66112800-66114400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:66112800-66114400	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr11:66112800-66114400	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr11:66112800-66114400	Flanking Active TSS	Fetal Lung	lung
20	chr11:66112800-66114400	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr11:66112800-66114600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:66112800-66114600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:66112800-66114600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:66112800-66114600	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr11:66112800-66114600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:66112800-66114600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:66112800-66114600	Enhancers	Spleen	Spleen
28	chr11:66112800-66114600	Flanking Active TSS	NHLF	lung
29	chr11:66112800-66114800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:66112800-66114800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:66112800-66114800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr11:66112800-66114800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:66112800-66115000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:66112800-66115000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:66112800-66115000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:66112800-66115000	Flanking Active TSS	Colonic Mucosa	Colon
37	chr11:66112800-66115000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:66112800-66115000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:66113000-66113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:66113000-66113800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:66113000-66113800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:66113000-66113800	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:66113000-66113800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr11:66113000-66113800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:66113000-66113800	Enhancers	Esophagus	oesophagus
46	chr11:66113000-66113800	Enhancers	Stomach Mucosa	stomach
47	chr11:66113000-66113800	Enhancers	HMEC	breast
48	chr11:66113000-66114000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:66113000-66114000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:66113000-66114000	Enhancers	Primary T cells fromperipheralblood	blood

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