Variant report

Variant	rs17146575
Chromosome Location	chr11:64780509-64780510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:64780484-64780662	K562	blood:	n/a	n/a
2	MYC	chr11:64780341-64782634	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
3	HCFC1	chr11:64780427-64782533	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:64780440-64780590	HRPEpiC	eye:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
2	chr11:64779777..64783339-chr11:64843637..64848045,5	K562	blood:
3	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
4	chr11:64779932..64783276-chr11:64862331..64864399,5	MCF-7	breast:
5	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
6	chr11:64780460..64784208-chr11:64862018..64864261,3	K562	blood:
7	chr11:64779047..64780768-chr11:64783130..64785775,3	MCF-7	breast:
8	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:
9	chr11:64779929..64781451-chr11:64813261..64815030,2	MCF-7	breast:
10	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
11	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
12	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
13	chr11:64778554..64781420-chr11:64816043..64818523,2	MCF-7	breast:
14	chr11:64663247..64665501-chr11:64780433..64782538,2	K562	blood:
15	chr11:64780075..64781062-chr17:58603335..58603844,2	MCF-7	breast:
16	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:
17	chr11:64667771..64669396-chr11:64778565..64780685,2	MCF-7	breast:
18	chr11:64779637..64784611-chr11:64849890..64854060,9	K562	blood:
19	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
20	chr11:64779557..64781251-chr11:65271267..65273112,2	K562	blood:
21	chr11:64663591..64666697-chr11:64779404..64783379,5	MCF-7	breast:
22	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
23	chr11:64780038..64784183-chr11:64845056..64847666,6	K562	blood:
24	chr11:64779668..64784219-chr11:64849890..64854919,7	K562	blood:
25	chr11:64778534..64781013-chr11:64781668..64784168,3	MCF-7	breast:
26	chr11:64691687..64693802-chr11:64779659..64781433,2	K562	blood:
27	chr11:64780421..64782168-chr11:64953277..64956161,2	MCF-7	breast:
28	chr11:64779662..64781456-chr11:64806960..64809857,2	K562	blood:
29	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
30	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
31	chr11:64779689..64782801-chr11:64896069..64898995,3	MCF-7	breast:
32	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
33	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
34	chr11:64766736..64768997-chr11:64779317..64781330,2	K562	blood:
35	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
36	chr11:64728080..64729823-chr11:64778498..64780871,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273003	TF binding region
ARL2	TF binding region
ENSG00000149823	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000266123	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000068971	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10488702	1.00[CEU][hapmap]
rs11231923	0.97[EUR][1000 genomes]
rs11824646	0.97[EUR][1000 genomes]
rs11827610	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap]
rs17146407	1.00[CEU][hapmap]
rs17146506	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs17146508	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes]
rs17146511	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes]
rs17146515	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs17146519	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes]
rs17146528	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes]
rs17146539	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs17146541	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17146543	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17146544	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17146569	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17673281	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35079323	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs3867127	1.00[CEU][hapmap]
rs3888184	1.00[CEU][hapmap]
rs4081424	0.97[EUR][1000 genomes]
rs4320955	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes]
rs58187497	0.92[AMR][1000 genomes]
rs58717149	0.87[EUR][1000 genomes]
rs60401184	0.92[AMR][1000 genomes]
rs60935617	0.85[AMR][1000 genomes]
rs628595	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs7102350	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs7103328	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7113751	1.00[CEU][hapmap]
rs7123368	1.00[CEU][hapmap]
rs7482817	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs7942472	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64764800-64781200	Weak transcription	Right Atrium	heart
2	chr11:64765000-64780600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64774600-64780600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64774800-64780800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:64775000-64780600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:64775000-64780600	Weak transcription	HSMMtube	muscle
7	chr11:64775200-64780600	Weak transcription	HUVEC	blood vessel
8	chr11:64775400-64780600	Weak transcription	Osteobl	bone
9	chr11:64775600-64780600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:64775600-64780600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:64775600-64780600	Weak transcription	HSMM	muscle
12	chr11:64775600-64780800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:64775600-64781000	Weak transcription	Esophagus	oesophagus
14	chr11:64775800-64780600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:64775800-64780600	Weak transcription	NH-A	brain
16	chr11:64775800-64780600	Weak transcription	NHDF-Ad	bronchial
17	chr11:64776000-64780600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:64776000-64780600	Weak transcription	NHEK	skin
19	chr11:64776200-64780600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:64777800-64780600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:64778800-64780600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:64779600-64781000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:64780200-64780600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:64780200-64781000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:64780400-64780600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:64780400-64780600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:64780400-64780600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:64780400-64780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:64780400-64780600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:64780400-64780600	Enhancers	Liver	Liver
31	chr11:64780400-64780600	Enhancers	Brain Anterior Caudate	brain
32	chr11:64780400-64780600	Enhancers	Brain Hippocampus Middle	brain
33	chr11:64780400-64780600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:64780400-64780600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:64780400-64780600	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr11:64780400-64780600	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:64780400-64780600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:64780400-64780600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:64780400-64780600	Enhancers	Fetal Kidney	kidney
40	chr11:64780400-64780600	Enhancers	Fetal Lung	lung
41	chr11:64780400-64780600	Enhancers	A549	lung
42	chr11:64780400-64780600	Enhancers	Hela-S3	cervix
43	chr11:64780400-64780600	Enhancers	HepG2	liver
44	chr11:64780400-64780600	Enhancers	HMEC	breast
45	chr11:64780400-64780600	Enhancers	K562	blood
46	chr11:64780400-64780600	Active TSS	NHLF	lung
47	chr11:64780400-64780800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:64780400-64780800	Enhancers	Primary B cells from cord blood	blood
49	chr11:64780400-64780800	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:64780400-64780800	Enhancers	Primary hematopoietic stem cells	blood

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