Variant report

Variant	rs6485647
Chromosome Location	chr11:45868257-45868258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45867993-45870911	IMR90	lung:	n/a	n/a
2	RELA	chr11:45868102-45869834	GM12891	blood:	n/a	n/a
3	MAZ	chr11:45868237-45869781	GM12878	blood:	n/a	chr11:45868843-45868853
4	BHLHE40	chr11:45868248-45869734	K562	blood:	n/a	n/a
5	GTF2F1	chr11:45868211-45869742	K562	blood:	n/a	n/a
6	NFE2	chr11:45868156-45868309	GM12878	blood:	n/a	n/a
7	CUX1	chr11:45868218-45868784	GM12878	blood:	n/a	n/a
8	CHD1	chr11:45868198-45870239	IMR90	lung:	n/a	n/a
9	MXI1	chr11:45868136-45870011	SK-N-SH	brain:	n/a	chr11:45868637-45868652
10	MAZ	chr11:45867889-45869992	IMR90	lung:	n/a	chr11:45868843-45868853
11	HCFC1	chr11:45867369-45870908	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr11:45868251-45868799	GM12878	blood:	n/a	n/a
13	MXI1	chr11:45868161-45870210	IMR90	lung:	n/a	chr11:45868637-45868652

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
2	chr11:45825531..45829159-chr11:45866510..45869041,3	K562	blood:
3	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
4	chr11:45833116..45834874-chr11:45867735..45869641,2	MCF-7	breast:
5	chr11:45867179..45868974-chr11:46142893..46144558,2	K562	blood:
6	chr11:45867151..45870859-chr11:45942545..45946514,4	K562	blood:
7	chr11:45867136..45869190-chr11:46140608..46142204,2	K562	blood:
8	chr11:45867781..45870078-chr11:45890099..45892765,3	MCF-7	breast:
9	chr11:45867957..45870667-chr11:45891635..45895689,3	MCF-7	breast:
10	chr11:45867854..45870393-chr11:45906869..45909551,2	MCF-7	breast:
11	chr11:45867823..45873583-chr11:45876186..45881298,10	MCF-7	breast:
12	chr11:45868118..45870705-chr11:45891795..45893685,3	K562	blood:

No data

Variant related genes	Relation type
CRY2	TF binding region
ENSG00000135365	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000121653	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000255447	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1554338	0.81[GIH][hapmap]
rs16938423	1.00[EUR][1000 genomes]
rs16938426	1.00[EUR][1000 genomes]
rs16938430	1.00[EUR][1000 genomes]
rs16938431	1.00[EUR][1000 genomes]
rs16938450	1.00[EUR][1000 genomes]
rs17789551	1.00[EUR][1000 genomes]
rs17847257	1.00[EUR][1000 genomes]
rs2271846	1.00[EUR][1000 genomes]
rs2271850	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280328	1.00[EUR][1000 genomes]
rs2280330	1.00[EUR][1000 genomes]
rs57199754	1.00[EUR][1000 genomes]
rs60623533	1.00[EUR][1000 genomes]
rs73455987	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45865200-45868400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:45865200-45868400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:45865200-45868400	Weak transcription	Stomach Mucosa	stomach
6	chr11:45865200-45869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:45865400-45868400	Enhancers	Liver	Liver
8	chr11:45865800-45868600	Weak transcription	Pancreas	Pancrea
9	chr11:45866000-45868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:45866600-45868400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:45867600-45868400	Enhancers	K562	blood
12	chr11:45867800-45868400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:45867800-45868400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:45867800-45868400	Enhancers	Fetal Muscle Leg	muscle
15	chr11:45867800-45868400	Enhancers	Ovary	ovary
16	chr11:45867800-45868400	Enhancers	NHLF	lung
17	chr11:45867800-45868600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr11:45867800-45869000	Enhancers	Placenta	Placenta
19	chr11:45868000-45868400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:45868000-45868400	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:45868000-45868400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:45868000-45868400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:45868000-45868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:45868000-45868400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:45868000-45868400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:45868000-45868400	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr11:45868000-45868400	Enhancers	Brain Germinal Matrix	brain
28	chr11:45868000-45868400	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:45868000-45868400	Enhancers	Fetal Brain Male	brain
30	chr11:45868000-45868400	Enhancers	Fetal Lung	lung
31	chr11:45868000-45868400	Enhancers	Fetal Stomach	stomach
32	chr11:45868000-45868400	Enhancers	Right Ventricle	heart
33	chr11:45868000-45868400	Enhancers	Dnd41	blood
34	chr11:45868000-45868600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:45868000-45868600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr11:45868000-45868600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:45868000-45868600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:45868000-45868600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:45868000-45868800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:45868200-45868400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:45868200-45868400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr11:45868200-45868400	Enhancers	Primary T cells from cord blood	blood
43	chr11:45868200-45868400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:45868200-45868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:45868200-45868400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:45868200-45868400	Active TSS	Brain Angular Gyrus	brain
47	chr11:45868200-45868400	Enhancers	Fetal Intestine Large	intestine
48	chr11:45868200-45868400	Enhancers	Fetal Intestine Small	intestine
49	chr11:45868200-45868400	Enhancers	Fetal Kidney	kidney
50	chr11:45868200-45868400	Enhancers	Placenta Amnion	Placenta Amnion

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