Variant report

Variant	esv3446719
Chromosome Location	chr13:92340551-92342699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92008336..92010163-chr13:92341417..92343555,2	K562	blood:
2	chr13:92338961..92341299-chr13:92468919..92471382,2	K562	blood:
3	chr13:91998739..92003103-chr13:92342674..92345565,4	K562	blood:
4	chr13:92001171..92002879-chr13:92342249..92344359,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562929498	chr13:92340565-92340566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573429270	chr13:92340570-92340571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542309990	chr13:92340623-92340624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559162739	chr13:92340656-92340657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188620849	chr13:92340679-92340680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9589335	chr13:92340706-92340707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191726674	chr13:92340758-92340759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565002760	chr13:92340760-92340761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs523428	chr13:92340764-92340765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs72643254	chr13:92340799-92340800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374847805	chr13:92340870-92340871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567664117	chr13:92340925-92340926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554672393	chr13:92340929-92340930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183962281	chr13:92340943-92340944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534642497	chr13:92340969-92340970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558047399	chr13:92340990-92340991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568428990	chr13:92340992-92340993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138446009	chr13:92341016-92341017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559219569	chr13:92341068-92341069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113306285	chr13:92341174-92341175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575883697	chr13:92341193-92341194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148889502	chr13:92341233-92341234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193182	chr13:92341259-92341260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554443914	chr13:92341283-92341284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577469437	chr13:92341320-92341321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546336864	chr13:92341361-92341362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536822	chr13:92341398-92341399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562227605	chr13:92341400-92341401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368626789	chr13:92341414-92341415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9515964	chr13:92341438-92341439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142158703	chr13:92341448-92341449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187779085	chr13:92341455-92341456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558973395	chr13:92341458-92341459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573013640	chr13:92341460-92341461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544840758	chr13:92341468-92341469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58749435	chr13:92341479-92341480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61225919	chr13:92341481-92341482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71272300	chr13:92341485-92341486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371217	chr13:92341486-92341487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192561240	chr13:92341513-92341514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530761756	chr13:92341516-92341517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542388195	chr13:92341518-92341519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs342674	chr13:92341546-92341547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561279267	chr13:92341551-92341552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530072309	chr13:92341586-92341587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183629472	chr13:92341608-92341609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186796099	chr13:92341619-92341620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143553349	chr13:92341725-92341726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148023598	chr13:92341735-92341736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552525488	chr13:92341819-92341820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92336000-92347400	Weak transcription	Hela-S3	cervix

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