Variant report

Variant	rs66602960
Chromosome Location	chr11:65689778-65689779
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65689639-65690360	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65689396-65691287	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:65689307-65691343	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:65689411-65689987	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65689290-65690929	U87	brain:	n/a	n/a
6	POLR2A	chr11:65689706-65690015	K562	blood:	n/a	n/a
7	POLR2A	chr11:65689764-65690555	U87	brain:	n/a	n/a
8	POLR2A	chr11:65689738-65689801	K562	blood:	n/a	n/a
9	POLR2A	chr11:65689295-65690582	U87	brain:	n/a	n/a
10	POLR2A	chr11:65689764-65689999	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
2	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
3	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
4	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
5	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf68	TF binding region
ENSG00000255120	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175513	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57529806	0.82[AFR][1000 genomes]
rs58364577	0.81[AFR][1000 genomes]
rs58980853	0.81[AFR][1000 genomes]
rs60614643	0.82[AFR][1000 genomes]
rs60979377	0.81[AFR][1000 genomes]
rs72926844	0.90[EUR][1000 genomes]
rs72926858	1.00[EUR][1000 genomes]
rs72926862	0.95[EUR][1000 genomes]
rs72926898	0.90[EUR][1000 genomes]
rs72928851	0.90[EUR][1000 genomes]
rs72928854	0.90[EUR][1000 genomes]
rs72928868	0.90[EUR][1000 genomes]
rs73496414	0.82[AFR][1000 genomes]
rs73496433	0.83[AFR][1000 genomes]
rs73496436	0.83[AFR][1000 genomes]
rs73496441	0.81[AFR][1000 genomes]
rs73496466	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv972039	chr11:65688555-65692860	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65687600-65690800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:65687600-65691000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:65688000-65689800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:65688000-65690600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr11:65688000-65691200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:65688000-65692400	Weak transcription	Fetal Kidney	kidney
8	chr11:65688200-65689800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:65688200-65690000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:65688200-65690000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:65688200-65691000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:65688200-65691200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:65688200-65695200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:65688400-65689800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:65688400-65690600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:65688400-65694600	Weak transcription	K562	blood
17	chr11:65688600-65689800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:65688600-65689800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:65688600-65690000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:65688600-65690000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:65688600-65690000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:65688600-65690200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr11:65688600-65690200	Genic enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:65688600-65690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:65688600-65690600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:65688600-65690600	Strong transcription	Lung	lung
27	chr11:65688600-65690600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:65688600-65690600	Genic enhancers	NHDF-Ad	bronchial
29	chr11:65688600-65690800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:65688600-65690800	Strong transcription	Right Ventricle	heart
31	chr11:65688600-65691000	Strong transcription	Brain Substantia Nigra	brain
32	chr11:65688600-65691200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:65688600-65691200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:65688600-65691600	Weak transcription	Psoas Muscle	Psoas
35	chr11:65688600-65692200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:65688600-65692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:65688600-65692800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:65688600-65692800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:65688600-65692800	Strong transcription	Fetal Intestine Small	intestine
40	chr11:65688600-65693400	Strong transcription	Placenta	Placenta
41	chr11:65688600-65695000	Weak transcription	HepG2	liver
42	chr11:65688600-65699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:65688800-65689800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:65688800-65689800	Genic enhancers	NHLF	lung
45	chr11:65688800-65690000	Weak transcription	HSMM	muscle
46	chr11:65688800-65690200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:65688800-65690200	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:65688800-65690600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:65688800-65691000	Strong transcription	Adipose Nuclei	Adipose
50	chr11:65688800-65691000	Strong transcription	Brain Hippocampus Middle	brain

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