Variant report

Variant	esv1840899
Chromosome Location	chr11:49712829-49802934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 46 )

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	rs55900373	chr11:49802210-49802211	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548325855	chr11:49802243-49802244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368539223	chr11:49802257-49802258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568115223	chr11:49802277-49802278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7131086	chr11:49802283-49802284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553477823	chr11:49802324-49802325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374140156	chr11:49802353-49802354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570769029	chr11:49802358-49802359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539330110	chr11:49802382-49802383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12805256	chr11:49802385-49802386	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575856287	chr11:49802395-49802396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7131223	chr11:49802396-49802397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541579996	chr11:49802408-49802409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148034480	chr11:49802417-49802418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141758449	chr11:49802420-49802421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553732079	chr11:49802443-49802444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184520200	chr11:49802446-49802447	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189485166	chr11:49802447-49802448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532876211	chr11:49802459-49802460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371714655	chr11:49802470-49802471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546195416	chr11:49802491-49802492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563169274	chr11:49802526-49802527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181032997	chr11:49802530-49802531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548757957	chr11:49802531-49802532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568200577	chr11:49802535-49802536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527377308	chr11:49802536-49802537	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184455584	chr11:49802543-49802544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570334697	chr11:49802547-49802548	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150559132	chr11:49802549-49802550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556190754	chr11:49802555-49802556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140666224	chr11:49802575-49802576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs569575841	chr11:49802596-49802597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558556513	chr11:49802601-49802602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189703815	chr11:49802602-49802603	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181237345	chr11:49802612-49802613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574621653	chr11:49802650-49802651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534020626	chr11:49802651-49802652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554205099	chr11:49802656-49802657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577188396	chr11:49802661-49802662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138544900	chr11:49802680-49802681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10839373	chr11:49802697-49802698	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10839374	chr11:49802707-49802708	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542485408	chr11:49802718-49802719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568246678	chr11:49802751-49802752	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186180060	chr11:49802762-49802763	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35171284	chr11:49802769-49802770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10839375	chr11:49802774-49802775	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49802200-49802800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:49802400-49802800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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