Variant report

Variant	nsv433272
Chromosome Location	chr13:90690778-90710793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:90703576..90708342-chr13:90709128..90714242,5	K562	blood:
2	chr13:90686920..90689377-chr13:90707957..90709473,2	K562	blood:
3	chr13:90703576..90708342-chr13:90709128..90714242,5	K562	blood:
4	chr13:90706547..90709956-chr13:90713211..90716180,4	K562	blood:

Extended variants
information (count: 415 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1844764	chr13:90694601-90694602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530830678	chr13:90694657-90694658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61960359	chr13:90694660-90694661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567656556	chr13:90694661-90694662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2637386	chr13:90694673-90694674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143259490	chr13:90694677-90694678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571464051	chr13:90694680-90694681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9583772	chr13:90694687-90694688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73589583	chr13:90694715-90694716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111442207	chr13:90694727-90694728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542649299	chr13:90694753-90694754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2637385	chr13:90694767-90694768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572743128	chr13:90694812-90694813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116229589	chr13:90694887-90694888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564807202	chr13:90694901-90694902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533609814	chr13:90694917-90694918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545164688	chr13:90694926-90694927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563660385	chr13:90694950-90694951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185391062	chr13:90694954-90694955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189925353	chr13:90695049-90695050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141990764	chr13:90695091-90695092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112250325	chr13:90695101-90695102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530962587	chr13:90695154-90695155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528469706	chr13:90695226-90695227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2637384	chr13:90695255-90695256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567793439	chr13:90695295-90695296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34428080	chr13:90695301-90695302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370265500	chr13:90695325-90695326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150723664	chr13:90695383-90695384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538850123	chr13:90695396-90695397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181566489	chr13:90695456-90695457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2637383	chr13:90695525-90695526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186362848	chr13:90695527-90695528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17665235	chr13:90695585-90695586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7323902	chr13:90695590-90695591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16943770	chr13:90695665-90695666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371137401	chr13:90695702-90695703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9560540	chr13:90695705-90695706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369286157	chr13:90695718-90695719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2637382	chr13:90695736-90695737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545199400	chr13:90695772-90695773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565353973	chr13:90695790-90695791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35819947	chr13:90695794-90695795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2805666	chr13:90695834-90695835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575422846	chr13:90695836-90695837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543352671	chr13:90695900-90695901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2805667	chr13:90695951-90695952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528518589	chr13:90695957-90695958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2637381	chr13:90695958-90695959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565399344	chr13:90695981-90695982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	18496225	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
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90694600-90697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:90699200-90700800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:90699400-90701200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr13:90699400-90701200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr13:90699800-90700600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:90699800-90701400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:90700000-90700200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:90700000-90700600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:90700200-90700600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr13:90700600-90701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:90700800-90701200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:90701200-90701400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:90701200-90702400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:90701400-90701800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:90701400-90703400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:90701400-90703400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:90701600-90703000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:90702200-90703600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:90702400-90702600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr13:90702400-90703400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:90702600-90703000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:90702600-90703000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr13:90703000-90704000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:90703400-90703600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:90703600-90707000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:90707200-90707800	Enhancers	HMEC	breast
27	chr13:90707400-90707600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:90707400-90707800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:90707400-90707800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:90707400-90707800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr13:90707400-90707800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:90707400-90707800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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