Variant report

Variant	rs544349523
Chromosome Location	chr11:65688690-65688691
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:8)
LncRNA
region (count:1)
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	MXI1	chr11:65685333-65688811	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65686637..65688948-chr11:65818033..65819758,2	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
4	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
5	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
6	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
7	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
8	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRAP1-1	chr11:65688523-65688996	NONHSAT022244

No data

Variant related genes	Relation type
C11orf68	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175513	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	chr11:65687200-65689000	Enhancers	Fetal Brain Male	brain
2	chr11:65687400-65688800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:65687600-65690800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:65687600-65691000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:65687800-65688800	Transcr. at gene 5' and 3'	NHLF	lung
6	chr11:65687800-65689000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:65687800-65689000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:65688000-65688800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:65688000-65688800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
11	chr11:65688000-65688800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:65688000-65688800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
13	chr11:65688000-65688800	Enhancers	Right Atrium	heart
14	chr11:65688000-65688800	Enhancers	Small Intestine	intestine
15	chr11:65688000-65688800	Enhancers	Spleen	Spleen
16	chr11:65688000-65688800	Transcr. at gene 5' and 3'	Osteobl	bone
17	chr11:65688000-65689400	Weak transcription	Aorta	Aorta
18	chr11:65688000-65689800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:65688000-65690600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr11:65688000-65691200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:65688000-65692400	Weak transcription	Fetal Kidney	kidney
22	chr11:65688200-65688800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:65688200-65688800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr11:65688200-65688800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:65688200-65688800	Enhancers	Fetal Intestine Large	intestine
26	chr11:65688200-65688800	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr11:65688200-65688800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr11:65688200-65688800	Genic enhancers	Fetal Stomach	stomach
29	chr11:65688200-65689000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:65688200-65689000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:65688200-65689000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:65688200-65689000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:65688200-65689000	Transcr. at gene 5' and 3'	HMEC	breast
34	chr11:65688200-65689400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:65688200-65689600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:65688200-65689800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:65688200-65690000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:65688200-65690000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:65688200-65691000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:65688200-65691200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:65688200-65695200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:65688400-65688800	Enhancers	Primary T cells from cord blood	blood
43	chr11:65688400-65688800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:65688400-65688800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:65688400-65688800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:65688400-65688800	Genic enhancers	Adipose Nuclei	Adipose
47	chr11:65688400-65688800	Genic enhancers	Fetal Thymus	thymus
48	chr11:65688400-65688800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:65688400-65688800	Enhancers	Stomach Mucosa	stomach
50	chr11:65688400-65688800	Genic enhancers	Thymus	Thymus

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