Variant report

Variant	nsv825762
Chromosome Location	chr11:9470175-9479714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:9471775-9472198	K562	blood:	n/a	n/a
2	BCL3	chr11:9471325-9472346	A549	lung:	n/a	n/a
3	BCL3	chr11:9472728-9473623	A549	lung:	n/a	n/a
4	CBX3	chr11:9473520-9473946	K562	blood:	n/a	n/a
5	CBX3	chr11:9473591-9473918	K562	blood:	n/a	n/a
6	CEBPB	chr11:9471071-9471094	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:9471015-9471154	A549	lung:	n/a	chr11:9471110-9471121
8	CEBPB	chr11:9471079-9471155	HepG2	liver:	n/a	chr11:9471110-9471121
9	EP300	chr11:9473638-9473806	K562	blood:	n/a	n/a
10	FOSL2	chr11:9470709-9470966	HepG2	liver:	n/a	n/a
11	GATA2	chr11:9473474-9473792	SH-SY5Y	brain:	n/a	n/a
12	KAP1	chr11:9473529-9473964	K562	blood:	n/a	n/a
13	KAP1	chr11:9473610-9473937	U2OS	brain:	n/a	n/a
14	MAFF	chr11:9477335-9477608	K562	blood:	n/a	n/a
15	MAFF	chr11:9477336-9477607	HepG2	liver:	n/a	n/a
16	MAFK	chr11:9477359-9477576	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr11:9477303-9477599	IMR90	lung:	n/a	n/a
18	MAFK	chr11:9477332-9477596	HepG2	liver:	n/a	n/a
19	MAFK	chr11:9477318-9477633	HepG2	liver:	n/a	n/a
20	NFATC1	chr11:9472864-9473223	GM12878	blood:	n/a	n/a
21	PML	chr11:9469685-9470644	K562	blood:	n/a	chr11:9469907-9469915
22	POLR2A	chr11:9471569-9471853	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:9469711-9470354	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:9471797-9472251	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:9471715-9472252	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr11:9473653-9473853	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:9470096-9470403	U87	brain:	n/a	n/a
28	POLR2A	chr11:9471681-9472540	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:9471180-9471603	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:9471877-9472250	HCT-116	colon:	n/a	n/a
31	POLR2A	chr11:9469685-9470851	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:9470291-9470295	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:9472911-9473830	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:9471140-9473974	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr11:9473096-9473301	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:9471647-9472018	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:9471744-9471926	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:9469768-9471020	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:9471778-9472261	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:9471748-9472147	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:9471988-9472638	HL-60	blood:	n/a	n/a
42	POLR2A	chr11:9470661-9470918	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:9472001-9472146	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:9471511-9472113	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:9472510-9473847	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr11:9479688-9485037	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr11:9469863-9470401	GM12891	blood:	n/a	n/a
48	POLR2A	chr11:9472908-9473518	U87	brain:	n/a	n/a
49	POLR2A	chr11:9471735-9472235	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:9474712-9474935	HUVEC	blood vessel:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9471254..9473102-chr11:9481139..9483040,2	MCF-7	breast:
2	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
3	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
4	chr11:9475198..9478964-chr11:9479689..9482782,3	MCF-7	breast:
5	chr11:9451258..9454317-chr11:9478650..9481134,3	K562	blood:
6	chr11:9469128..9470707-chr11:9471255..9473925,2	K562	blood:
7	chr11:9474328..9476179-chr11:9477857..9479855,2	MCF-7	breast:
8	chr11:9465547..9467985-chr11:9478686..9481606,2	MCF-7	breast:
9	chr11:9474328..9476179-chr11:9477857..9479855,2	MCF-7	breast:
10	chr11:9469128..9470707-chr11:9471255..9473925,2	K562	blood:
11	chr11:9476699..9479539-chr11:9481471..9484137,3	MCF-7	breast:
12	chr11:9471434..9473204-chr11:9611341..9613094,2	K562	blood:
13	chr11:9469838..9473131-chr11:9479666..9482580,4	MCF-7	breast:
14	chr11:9479599..9481235-chr11:9491543..9494433,2	MCF-7	breast:
15	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:
16	chr11:9461359..9463552-chr11:9468544..9471104,2	K562	blood:
17	chr11:9405101..9410331-chr11:9478772..9485340,14	K562	blood:
18	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
19	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
20	chr11:9478850..9481331-chr11:9519005..9520615,2	MCF-7	breast:
21	chr11:9479094..9481371-chr11:9515349..9517388,2	K562	blood:

No data

Variant related genes	Relation type
ZNF143	TF binding region
ENSG00000166471	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000205339	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000268403	chromatin interactions

Extended variants
information (count: 407 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531565149	chr11:9470189-9470190	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565596618	chr11:9470212-9470213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568137651	chr11:9470234-9470235	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182891614	chr11:9470257-9470258	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557010118	chr11:9470266-9470267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372221724	chr11:9470282-9470283	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576878955	chr11:9470316-9470317	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144811554	chr11:9470325-9470326	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs61126811	chr11:9470326-9470327	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs397800688	chr11:9470340-9470341	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369797385	chr11:9470380-9470381	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546481888	chr11:9470393-9470394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs78314490	chr11:9470395-9470396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573432178	chr11:9470397-9470398	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542036506	chr11:9470398-9470399	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562246391	chr11:9470408-9470409	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187576511	chr11:9470410-9470411	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs61876791	chr11:9470411-9470412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575350337	chr11:9470435-9470436	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544274517	chr11:9470458-9470459	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190932590	chr11:9470465-9470466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534523622	chr11:9470468-9470469	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183304908	chr11:9470495-9470496	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533119522	chr11:9470519-9470520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112067615	chr11:9470557-9470558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552487657	chr11:9470610-9470611	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559381928	chr11:9470614-9470615	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554720200	chr11:9470618-9470619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148842387	chr11:9470636-9470637	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111273333	chr11:9470644-9470645	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568224830	chr11:9470665-9470666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs145243272	chr11:9470670-9470671	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192700663	chr11:9470672-9470673	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570471258	chr11:9470687-9470688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539053321	chr11:9470688-9470689	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556323671	chr11:9470691-9470692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553657731	chr11:9470704-9470705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs73406243	chr11:9470725-9470726	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534279470	chr11:9470732-9470733	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140739971	chr11:9470757-9470758	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111512708	chr11:9470801-9470802	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575388658	chr11:9470802-9470803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs554342371	chr11:9470808-9470809	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12282176	chr11:9470810-9470811	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs145893632	chr11:9470848-9470849	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577659469	chr11:9470849-9470850	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540239390	chr11:9470850-9470851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376190130	chr11:9470896-9470897	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559632641	chr11:9470899-9470900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528389251	chr11:9470907-9470908	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:9426200-9471600	Strong transcription	Dnd41	blood
7	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:9434800-9470400	Strong transcription	Osteobl	bone
11	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:9439600-9472000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:9439800-9470200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:9439800-9470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:9440000-9470800	Strong transcription	Fetal Thymus	thymus
16	chr11:9440200-9470400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:9443600-9470200	Strong transcription	HSMM	muscle
18	chr11:9443800-9470200	Strong transcription	HUVEC	blood vessel
19	chr11:9452800-9480000	Weak transcription	Fetal Brain Male	brain
20	chr11:9453800-9470200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr11:9455200-9471600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:9456800-9471600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:9457800-9480600	Weak transcription	Psoas Muscle	Psoas
24	chr11:9460800-9471000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:9460800-9472800	Weak transcription	Small Intestine	intestine
26	chr11:9461800-9474800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9462200-9481000	Weak transcription	NHLF	lung
28	chr11:9463400-9471800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:9463400-9481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:9463800-9470600	Weak transcription	Fetal Kidney	kidney
31	chr11:9463800-9473000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:9463800-9481000	Weak transcription	NHDF-Ad	bronchial
33	chr11:9464800-9480800	Weak transcription	HSMMtube	muscle
34	chr11:9465000-9474400	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:9465000-9480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:9465000-9480800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:9465000-9481000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:9465200-9476000	Weak transcription	Aorta	Aorta
39	chr11:9465200-9481000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:9465200-9481200	Weak transcription	Ovary	ovary
41	chr11:9465400-9481000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:9465400-9481000	Weak transcription	K562	blood
43	chr11:9465600-9472800	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:9465800-9480600	Weak transcription	Esophagus	oesophagus
45	chr11:9465800-9481000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:9466200-9472800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:9466200-9472800	Weak transcription	Brain Germinal Matrix	brain
48	chr11:9466200-9472800	Weak transcription	Thymus	Thymus
49	chr11:9466200-9473400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:9466400-9470600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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