Variant report

Variant	esv1800684
Chromosome Location	chr13:92450566-92460111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:
2	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:
3	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
4	chr13:92009180..92011434-chr13:92452798..92454691,2	K562	blood:

Extended variants
information (count: 379 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7991916	chr13:92450566-92450567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184363321	chr13:92450588-92450589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113003542	chr13:92450599-92450600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527624702	chr13:92450603-92450604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187544297	chr13:92450610-92450611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142023991	chr13:92450657-92450658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145993369	chr13:92450658-92450659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537382717	chr13:92450661-92450662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549724725	chr13:92450725-92450726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570138553	chr13:92450726-92450727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192686612	chr13:92450733-92450734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537086247	chr13:92450758-92450759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557123693	chr13:92450854-92450855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529365530	chr13:92450909-92450910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7336461	chr13:92450936-92450937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12873046	chr13:92450944-92450945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535370085	chr13:92450945-92450946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148240198	chr13:92450971-92450972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141378473	chr13:92450982-92450983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150373394	chr13:92451016-92451017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555837029	chr13:92451030-92451031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576131373	chr13:92451054-92451055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138177619	chr13:92451071-92451072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376947726	chr13:92451121-92451122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12873848	chr13:92451151-92451152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12873867	chr13:92451174-92451175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555570864	chr13:92451184-92451185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183591447	chr13:92451194-92451195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562902688	chr13:92451225-92451226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375959267	chr13:92451226-92451227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12874012	chr13:92451257-92451258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2989991	chr13:92451280-92451281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189592518	chr13:92451289-92451290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12873517	chr13:92451295-92451296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533013261	chr13:92451300-92451301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12872490	chr13:92451301-92451302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564101010	chr13:92451307-92451308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12877531	chr13:92451324-92451325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12877538	chr13:92451337-92451338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371663154	chr13:92451381-92451382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3012005	chr13:92451395-92451396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12876055	chr13:92451399-92451400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12877571	chr13:92451409-92451410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12877572	chr13:92451410-92451411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549190058	chr13:92451446-92451447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12862672	chr13:92451453-92451454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566139822	chr13:92451474-92451475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528710197	chr13:92451486-92451487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9556119	chr13:92451487-92451488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571971273	chr13:92451499-92451500	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92450200-92454000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:92452000-92452800	Weak transcription	Fetal Heart	heart
3	chr13:92452600-92453000	Enhancers	Fetal Lung	lung
4	chr13:92452600-92454000	Enhancers	Rectal Smooth Muscle	rectum
5	chr13:92452800-92453600	Enhancers	Fetal Heart	heart
6	chr13:92453000-92453800	Weak transcription	Fetal Lung	lung
7	chr13:92453400-92454200	Enhancers	Fetal Brain Male	brain
8	chr13:92453600-92456200	Weak transcription	Fetal Heart	heart
9	chr13:92453800-92454200	Enhancers	Fetal Lung	lung
10	chr13:92454000-92456400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:92454200-92456600	Weak transcription	Fetal Lung	lung
12	chr13:92456200-92458000	Enhancers	Fetal Heart	heart
13	chr13:92456400-92457400	Enhancers	Rectal Smooth Muscle	rectum
14	chr13:92456600-92458000	Enhancers	Fetal Lung	lung
15	chr13:92456800-92457000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:92457200-92457400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:92457200-92457400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr13:92457400-92460600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:92457400-92465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:92457600-92457800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:92458000-92463800	Weak transcription	Fetal Heart	heart
22	chr13:92458000-92464000	Weak transcription	Fetal Lung	lung
23	chr13:92458400-92459600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:92458400-92459800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:92458800-92459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:92458800-92459200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:92459000-92463600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:92459200-92465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:92459600-92463200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:92459800-92461600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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