Variant report

Variant	esv17081
Chromosome Location	chr13:92386548-92392301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:91999817..92002695-chr13:92390327..92393222,2	K562	blood:
2	chr13:92367826..92370130-chr13:92386601..92389593,3	K562	blood:
3	chr13:92383340..92385444-chr13:92386472..92389094,2	K562	blood:
4	chr13:92387450..92389027-chr13:92396587..92398169,2	K562	blood:
5	chr13:92008256..92010781-chr13:92387538..92390308,3	K562	blood:

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192349403	chr13:92386557-92386558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143204175	chr13:92386558-92386559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182379170	chr13:92386598-92386599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546810953	chr13:92386636-92386637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566749733	chr13:92386657-92386658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568111352	chr13:92386666-92386667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs342714	chr13:92386691-92386692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76181084	chr13:92386720-92386721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373333712	chr13:92386744-92386745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187884987	chr13:92386754-92386755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199736020	chr13:92386967-92386968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397692535	chr13:92386969-92386970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397779191	chr13:92386970-92386971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368357154	chr13:92387047-92387048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537062130	chr13:92387125-92387126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34784922	chr13:92387133-92387134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397941600	chr13:92387141-92387142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569540306	chr13:92387166-92387167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564211616	chr13:92387191-92387192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550514711	chr13:92387209-92387210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148168068	chr13:92387267-92387268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573804401	chr13:92387275-92387276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542773887	chr13:92387281-92387282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9560845	chr13:92387285-92387286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559476835	chr13:92387433-92387434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4773646	chr13:92387437-92387438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535584130	chr13:92387470-92387471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80345709	chr13:92387494-92387495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192703887	chr13:92387497-92387498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530675181	chr13:92387553-92387554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550968607	chr13:92387629-92387630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560917165	chr13:92387640-92387641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545208582	chr13:92387656-92387657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555147983	chr13:92387657-92387658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2174503	chr13:92387661-92387662	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs566517791	chr13:92387703-92387704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183436405	chr13:92387774-92387775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566615958	chr13:92387777-92387778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548505672	chr13:92387783-92387784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs342713	chr13:92387828-92387829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187322522	chr13:92387896-92387897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs171060	chr13:92387945-92387946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17334211	chr13:92387969-92387970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373699324	chr13:92387971-92387972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555281789	chr13:92387988-92387989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9589349	chr13:92388047-92388048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376910162	chr13:92388061-92388062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536246407	chr13:92388089-92388090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553152648	chr13:92388114-92388115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572804931	chr13:92388162-92388163	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92383000-92419400	Weak transcription	Hela-S3	cervix
2	chr13:92392200-92393400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:92392200-92393400	Enhancers	Brain Germinal Matrix	brain

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