Variant report

Variant	esv3424019
Chromosome Location	chr11:49189499-49189994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565067770	chr11:49189510-49189511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376023376	chr11:49189522-49189523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12362295	chr11:49189544-49189545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs653212	chr11:49189552-49189553	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544126049	chr11:49189571-49189572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369176831	chr11:49189597-49189598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76085448	chr11:49189598-49189599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200801999	chr11:49189610-49189611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141519102	chr11:49189626-49189627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529414477	chr11:49189644-49189645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549350649	chr11:49189660-49189661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184505687	chr11:49189674-49189675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367809904	chr11:49189731-49189732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528759056	chr11:49189772-49189773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577018841	chr11:49189774-49189775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546135506	chr11:49189780-49189781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537646940	chr11:49189783-49189784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372777766	chr11:49189797-49189798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557284159	chr11:49189819-49189820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188919901	chr11:49189831-49189832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181663272	chr11:49189862-49189863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12792075	chr11:49189863-49189864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12792593	chr11:49189870-49189871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535966882	chr11:49189901-49189902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552519742	chr11:49189931-49189932	Weak transcription Strong 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49171400-49197600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:49171600-49190800	Weak transcription	Small Intestine	intestine
3	chr11:49183400-49190000	Strong transcription	Fetal Intestine Large	intestine
4	chr11:49184200-49193400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:49185600-49190600	Weak transcription	Fetal Stomach	stomach
7	chr11:49185600-49194000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:49185600-49201800	Weak transcription	Fetal Lung	lung
9	chr11:49186200-49195600	Weak transcription	Liver	Liver
10	chr11:49186800-49204200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:49189400-49195000	Weak transcription	Fetal Intestine Small	intestine

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