Variant report

Variant	nsv553225
Chromosome Location	chr11:5188827-5199222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5193260-5193372	K562	blood:	n/a	n/a
2	ARID3A	chr11:5194443-5194536	K562	blood:	n/a	n/a
3	ATF1	chr11:5199045-5199305	K562	blood:	n/a	n/a
4	BHLHE40	chr11:5193299-5193453	K562	blood:	n/a	n/a
5	CEBPB	chr11:5188482-5188830	K562	blood:	n/a	n/a
6	CEBPB	chr11:5189572-5189685	K562	blood:	n/a	chr11:5189660-5189671 chr11:5189660-5189673
7	CHD2	chr11:5195669-5195693	GM12878	blood:	n/a	n/a
8	E2F4	chr11:5195343-5195706	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr11:5193168-5193440	K562	blood:	n/a	n/a
10	EP300	chr11:5193277-5193345	K562	blood:	n/a	n/a
11	GATA2	chr11:5193089-5193482	K562	blood:	n/a	chr11:5193396-5193408
12	IRF1	chr11:5195603-5195739	K562	blood:	n/a	n/a
13	IRF1	chr11:5189337-5189476	K562	blood:	n/a	n/a
14	IRF3	chr11:5195651-5195661	GM12878	blood:	n/a	n/a
15	JUN	chr11:5194475-5194479	K562	blood:	n/a	n/a
16	KAP1	chr11:5190483-5190886	K562	blood:	n/a	n/a
17	MYC	chr11:5193269-5193405	K562	blood:	n/a	n/a
18	NR2F2	chr11:5192960-5193507	K562	blood:	n/a	n/a
19	NR2F2	chr11:5193109-5193474	K562	blood:	n/a	n/a
20	POLR2A	chr11:5192931-5193030	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:5195116-5195176	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5193131-5193405	K562	blood:	n/a	n/a
23	POLR2A	chr11:5192160-5192182	A549	lung:	n/a	n/a
24	POLR2A	chr11:5191980-5192158	A549	lung:	n/a	n/a
25	POLR2A	chr11:5192379-5192412	MCF10A-Er-Src	breast:	n/a	n/a
26	RCOR1	chr11:5193156-5193450	K562	blood:	n/a	n/a
27	RCOR1	chr11:5195428-5195650	K562	blood:	n/a	n/a
28	TAL1	chr11:5193068-5193487	K562	blood:	n/a	chr11:5193212-5193221
29	TBL1XR1	chr11:5193247-5193421	K562	blood:	n/a	n/a
30	TEAD4	chr11:5193087-5193521	K562	blood:	n/a	n/a
31	TEAD4	chr11:5193077-5193496	K562	blood:	n/a	n/a
32	ZNF143	chr11:5192655-5192677	K562	blood:	n/a	n/a
33	ZNF274	chr11:5192595-5193989	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5192167..5196032-chr11:5198178..5201494,6	K562	blood:
2	chr11:5191942..5195830-chr11:5198178..5202032,4	K562	blood:
3	11:5181580-5190487..11:5700314-5707362	GM12878	blood:
4	11:5181580-5190487..11:5714465-5718134	K562	blood:
5	chr11:5188106..5190567-chr11:5193129..5195928,3	K562	blood:
6	chr11:5188106..5190567-chr11:5193129..5195928,3	K562	blood:
7	chr11:5151076..5153190-chr11:5193820..5196178,2	K562	blood:
8	chr11:5192167..5196032-chr11:5198178..5201494,6	K562	blood:
9	chr11:5174124..5177497-chr11:5196224..5198159,3	K562	blood:
10	11:5181580-5190487..11:5250847-5268367	Hela-S3	cervix:
11	chr11:5191942..5195830-chr11:5198178..5202032,4	K562	blood:
12	chr11:5188285..5189927-chr11:5190428..5192790,2	K562	blood:
13	11:5181580-5190487..11:5533869-5541626	K562	blood:
14	11:5181580-5190487..11:5527719-5533869	GM12878	blood:
15	chr11:5172907..5175854-chr11:5188403..5191895,3	K562	blood:
16	chr11:5176895..5179770-chr11:5188054..5190408,2	K562	blood:

No data

Variant related genes	Relation type
OR51A1P	TF binding region
ENSG00000260629	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000176752	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000182070	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000176748	chromatin interactions
ENSG00000175520	chromatin interactions

Extended variants
information (count: 565 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10742552	chr11:5188827-5188828	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10734485	chr11:5188844-5188845	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs575328149	chr11:5188848-5188849	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs575234657	chr11:5188870-5188871	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs557508574	chr11:5188914-5188915	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs573028289	chr11:5188917-5188918	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs540122881	chr11:5188928-5188929	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs562038206	chr11:5188933-5188934	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs10742553	chr11:5188936-5188937	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371127348	chr11:5188956-5188957	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs139029524	chr11:5188960-5188961	Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs74051378	chr11:5189056-5189057	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551532466	chr11:5189062-5189063	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs189765705	chr11:5189083-5189084	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs75982646	chr11:5189101-5189102	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs57552480	chr11:5189117-5189118	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546928963	chr11:5189147-5189148	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs568746696	chr11:5189170-5189171	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs10742555	chr11:5189202-5189203	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550560964	chr11:5189250-5189251	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs568941396	chr11:5189262-5189263	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs138191905	chr11:5189367-5189368	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs115885209	chr11:5189369-5189370	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs57911787	chr11:5189398-5189399	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144019642	chr11:5189415-5189416	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs555312849	chr11:5189416-5189417	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs201652530	chr11:5189457-5189458	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs386750119	chr11:5189458-5189459	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs60636854	chr11:5189460-5189461	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs573875160	chr11:5189554-5189555	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs556570694	chr11:5189558-5189559	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs56381892	chr11:5189604-5189605	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201058515	chr11:5189612-5189613	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs199828586	chr11:5189623-5189624	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs61491854	chr11:5189627-5189628	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs57430332	chr11:5189630-5189631	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs57138324	chr11:5189682-5189683	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs60603509	chr11:5189687-5189688	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs540814628	chr11:5189688-5189689	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs559807891	chr11:5189731-5189732	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs374007829	chr11:5189735-5189736	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs7481293	chr11:5189743-5189744	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529524638	chr11:5189760-5189761	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs12279380	chr11:5189764-5189765	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs550896378	chr11:5189771-5189772	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs78546573	chr11:5189781-5189782	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs74051384	chr11:5189899-5189900	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551416138	chr11:5189930-5189931	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs61060114	chr11:5189995-5189996	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs10160444	chr11:5190030-5190031	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5186600-5192200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5187400-5189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:5187800-5189400	Enhancers	K562	blood
4	chr11:5188600-5189000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:5189400-5191600	Weak transcription	K562	blood
6	chr11:5191600-5193200	Enhancers	K562	blood
7	chr11:5192200-5192400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5193200-5193600	Flanking Active TSS	K562	blood
9	chr11:5193600-5194000	Enhancers	K562	blood
10	chr11:5194000-5199000	Weak transcription	K562	blood
11	chr11:5199000-5200000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links