Variant report

Variant	esv1841556
Chromosome Location	chr11:49111467-49119477
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	MAFF	chr11:49115035-49115204	K562	blood:	n/a	n/a
2	MAFK	chr11:49114977-49115248	IMR90	lung:	n/a	chr11:49115099-49115110 chr11:49115099-49115110
3	MAFK	chr11:49114962-49115242	HepG2	liver:	n/a	chr11:49115099-49115110 chr11:49115099-49115110
4	POLR2A	chr11:49111693-49111730	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr11:49114017-49114169	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-1	chr11:49113956-49114319	NONHSAT021308

Variant related genes	Relation type
ENSG00000255452	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2696935	chr11:49111467-49111468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140083696	chr11:49111475-49111476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558961513	chr11:49111487-49111488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72906332	chr11:49111504-49111505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58846727	chr11:49111534-49111535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555210187	chr11:49111566-49111567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574537999	chr11:49111626-49111627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189577617	chr11:49111637-49111638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145734127	chr11:49111655-49111656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531998352	chr11:49111656-49111657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545812408	chr11:49111686-49111687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193048517	chr11:49111741-49111742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531653327	chr11:49111787-49111788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185223658	chr11:49111839-49111840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538518343	chr11:49111849-49111850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73471282	chr11:49111860-49111861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190582423	chr11:49111919-49111920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148897474	chr11:49111935-49111936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375713874	chr11:49112025-49112026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566981157	chr11:49112041-49112042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558433691	chr11:49112117-49112118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143621759	chr11:49112147-49112148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558923195	chr11:49112158-49112159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34334627	chr11:49112183-49112184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569409615	chr11:49112209-49112210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71477486	chr11:49112286-49112287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147645082	chr11:49112288-49112289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61885190	chr11:49112313-49112314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181980524	chr11:49112337-49112338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185071815	chr11:49112374-49112375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540865227	chr11:49112435-49112436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553565540	chr11:49112436-49112437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116039189	chr11:49112438-49112439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545449725	chr11:49112440-49112441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562516725	chr11:49112585-49112586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112966116	chr11:49112613-49112614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112027816	chr11:49112684-49112685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2727018	chr11:49112795-49112796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531938301	chr11:49114043-49114044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs144825451	chr11:49114063-49114064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs531717423	chr11:49114152-49114153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs187927968	chr11:49114191-49114192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs568736475	chr11:49114243-49114244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs139760893	chr11:49114269-49114270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375618666	chr11:49114297-49114298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs191232248	chr11:49114299-49114300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs528600352	chr11:49114314-49114315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
small cell lung cancer	17426248	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49110400-49112800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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