Variant report

Variant	esv3392156
Chromosome Location	chr11:49321976-49329974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
3	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
4	POLR2A	chr11:49326609-49326749	ProgFib	skin:	n/a	n/a
5	POLR2A	chr11:49329809-49329887	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr11:49324117-49324128	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556073973	chr11:49321985-49321986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114773670	chr11:49322039-49322040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190876868	chr11:49322061-49322062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541720556	chr11:49322130-49322131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564474218	chr11:49322179-49322180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578156543	chr11:49322197-49322198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11040321	chr11:49322206-49322207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183174150	chr11:49322207-49322208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563075557	chr11:49322217-49322218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528833817	chr11:49322270-49322271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187289016	chr11:49322274-49322275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190591429	chr11:49322292-49322293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528332472	chr11:49322317-49322318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551658567	chr11:49322380-49322381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571352782	chr11:49322423-49322424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7115345	chr11:49322449-49322450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549993245	chr11:49322520-49322521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570192429	chr11:49322548-49322549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535976490	chr11:49322556-49322557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555757006	chr11:49322563-49322564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78206517	chr11:49322567-49322568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7115507	chr11:49322573-49322574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11040322	chr11:49322609-49322610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113697021	chr11:49322660-49322661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578097566	chr11:49322670-49322671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530060183	chr11:49322672-49322673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7481212	chr11:49322678-49322679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375296534	chr11:49322684-49322685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11822117	chr11:49322694-49322695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573370479	chr11:49322732-49322733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183189807	chr11:49322739-49322740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147916051	chr11:49322754-49322755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139863031	chr11:49322776-49322777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370729519	chr11:49322836-49322837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544966606	chr11:49322869-49322870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149104162	chr11:49322878-49322879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187520911	chr11:49322917-49322918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550768332	chr11:49322951-49322952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372277374	chr11:49322959-49322960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374359112	chr11:49323018-49323019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193213248	chr11:49323035-49323036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1843628	chr11:49323039-49323040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185613450	chr11:49323150-49323151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78819975	chr11:49323151-49323152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75498993	chr11:49323152-49323153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566069055	chr11:49323158-49323159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187782048	chr11:49323167-49323168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558144637	chr11:49323184-49323185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143193338	chr11:49323229-49323230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373820190	chr11:49323242-49323243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49320600-49322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:49320600-49322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:49320600-49322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:49322000-49322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:49322000-49322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:49322200-49322800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:49322400-49322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:49322400-49322800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:49322800-49324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:49324600-49325000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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