Variant report

Variant	rs530826760
Chromosome Location	chr11:66792000-66792001
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr11:66791932-66792270	GM12878	blood:	n/a	chr11:66792186-66792197
2	EBF1	chr11:66791928-66792241	GM12878	blood:	n/a	n/a
3	ZKSCAN1	chr11:66791966-66792245	Hela-S3	cervix:	n/a	n/a
4	EBF1	chr11:66791873-66792271	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:66791730-66792451	GM12878	blood:	n/a	chr11:66792152-66792169
6	POLR2A	chr11:66791920-66792313	SK-N-MC	brain:	n/a	n/a
7	STAT5A	chr11:66791938-66792266	GM12878	blood:	n/a	n/a
8	RUNX3	chr11:66791770-66792465	GM12878	blood:	n/a	chr11:66792152-66792169
9	MTA3	chr11:66791901-66792411	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:66791929-66792413	HL-60	blood:	n/a	n/a
11	EBF1	chr11:66791820-66792331	GM12878	blood:	n/a	n/a
12	SUZ12	chr11:66790239-66792182	NT2-D1	testis:	n/a	n/a
13	MYC	chr11:66791952-66792338	NB4	blood:	n/a	n/a
14	NFIC	chr11:66791904-66792358	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66789062..66792605-chr11:66793092..66798254,6	K562	blood:
3	chr11:66762967..66768319-chr11:66788576..66792799,9	MCF-7	breast:
4	chr11:66622967..66625397-chr11:66790084..66792768,5	MCF-7	breast:
5	chr11:66762811..66772502-chr11:66787021..66797000,34	MCF-7	breast:
6	chr11:66628190..66631041-chr11:66791870..66794073,2	MCF-7	breast:
7	chr11:66510482..66513147-chr11:66790966..66792774,2	MCF-7	breast:
8	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
9	chr11:66622645..66625708-chr11:66789822..66792440,5	MCF-7	breast:
10	chr11:66790564..66792990-chr17:56707751..56709327,2	MCF-7	breast:
11	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
12	chr11:66790383..66792489-chr11:67119405..67122102,2	MCF-7	breast:
13	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
14	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:

No data

Variant related genes	Relation type
SYT12	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000252709	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	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
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	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
7	esv3405747	chr11:66789601-66792149	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3378723	chr11:66790076-66792024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66789600-66792800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:66790000-66793200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr11:66790200-66792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:66790400-66792000	Active TSS	HSMMtube	muscle
5	chr11:66790400-66792200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:66790400-66792600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr11:66790600-66792200	Active TSS	Brain Angular Gyrus	brain
8	chr11:66790800-66792000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr11:66791000-66792200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
10	chr11:66791000-66792400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
11	chr11:66791000-66792400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
12	chr11:66791000-66792400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
13	chr11:66791000-66792400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr11:66791000-66792800	Enhancers	Dnd41	blood
15	chr11:66791200-66792000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr11:66791200-66792000	Flanking Active TSS	Liver	Liver
17	chr11:66791200-66792600	Bivalent Enhancer	NHEK	skin
18	chr11:66791200-66793200	Bivalent Enhancer	Fetal Thymus	thymus
19	chr11:66791200-66793200	Flanking Active TSS	Hela-S3	cervix
20	chr11:66791400-66792000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:66791400-66792000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:66791400-66792000	Bivalent Enhancer	Fetal Stomach	stomach
23	chr11:66791400-66792200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:66791400-66792200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:66791400-66792200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:66791400-66792400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:66791400-66792400	Bivalent Enhancer	Spleen	Spleen
28	chr11:66791400-66792600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr11:66791400-66792600	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr11:66791400-66792800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:66791400-66792800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr11:66791400-66792800	Enhancers	HSMM	muscle
33	chr11:66791400-66793000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:66791400-66793000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:66791400-66793000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:66791400-66793200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:66791400-66793200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr11:66791400-66794400	Weak transcription	Gastric	stomach
39	chr11:66791600-66792000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:66791600-66792000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:66791600-66792000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
42	chr11:66791600-66792200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:66791600-66792400	Weak transcription	Pancreas	Pancrea
44	chr11:66791600-66792400	Bivalent Enhancer	Small Intestine	intestine
45	chr11:66791600-66792400	Bivalent Enhancer	Thymus	Thymus
46	chr11:66791600-66792800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:66791600-66792800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:66791600-66792800	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr11:66791600-66792800	Flanking Active TSS	Osteobl	bone
50	chr11:66791600-66793200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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