Variant report

Variant	esv3325375
Chromosome Location	chr11:16596601-16599149
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	KAP1	chr11:16596588-16596884	K562	blood:	n/a	n/a
2	POLR2A	chr11:16598401-16598706	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16594124..16596937-chr11:16631797..16633860,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf58-3	chr11:16598398-16598682	NONHSAT018178

Variant related genes	Relation type
RN7SL188P	TF binding region
PTPN12	miRNA target sites

Extended variants
information (count: 71 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545865536	chr11:16596629-16596630	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555642548	chr11:16596663-16596664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557606753	chr11:16596672-16596673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4757413	chr11:16596689-16596690	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543595028	chr11:16596800-16596801	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369942023	chr11:16596820-16596821	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529168059	chr11:16596826-16596827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192282177	chr11:16596882-16596883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560517745	chr11:16596894-16596895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527719972	chr11:16596938-16596939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552632265	chr11:16596962-16596963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567147131	chr11:16596996-16596997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534571499	chr11:16596998-16596999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570659823	chr11:16597206-16597207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116105616	chr11:16597216-16597217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549923537	chr11:16597243-16597244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73417201	chr11:16597295-16597296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372807848	chr11:16597333-16597334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536122319	chr11:16597334-16597335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73419003	chr11:16597467-16597468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565658803	chr11:16597488-16597489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185229209	chr11:16597518-16597519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553243399	chr11:16597532-16597533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577915230	chr11:16597545-16597546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370075874	chr11:16597579-16597580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189662943	chr11:16597591-16597592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112890887	chr11:16597747-16597748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111397908	chr11:16597752-16597753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201745311	chr11:16597881-16597882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199770146	chr11:16597882-16597883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200334881	chr11:16597883-16597884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201438991	chr11:16597884-16597885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199753165	chr11:16597885-16597886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200763754	chr11:16597886-16597887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181092126	chr11:16597951-16597952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72859475	chr11:16597986-16597987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76671165	chr11:16598097-16598098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184378036	chr11:16598104-16598105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557168026	chr11:16598184-16598185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573910990	chr11:16598213-16598214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573819497	chr11:16598218-16598219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541304222	chr11:16598233-16598234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149328090	chr11:16598238-16598239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146282759	chr11:16598260-16598261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563575823	chr11:16598269-16598270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117032378	chr11:16598316-16598317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76675588	chr11:16598352-16598353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188302711	chr11:16598375-16598376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549888500	chr11:16598402-16598403	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568297402	chr11:16598403-16598404	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16584400-16605600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:16593400-16598400	Weak transcription	Left Ventricle	heart
3	chr11:16595200-16597000	Weak transcription	Fetal Heart	heart
4	chr11:16595200-16598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:16595200-16608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:16595400-16609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:16597000-16597200	Enhancers	Fetal Heart	heart
8	chr11:16598000-16600200	Weak transcription	Fetal Brain Male	brain
9	chr11:16598400-16598600	Genic enhancers	Left Ventricle	heart
10	chr11:16598400-16599800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:16598600-16609200	Weak transcription	Left Ventricle	heart

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