Variant report

Variant	nsv818987
Chromosome Location	chr13:93201002-93208593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:93208360..93208885-chr15:100314006..100314703,2	MCF-7	breast:
2	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4773689	chr13:93201002-93201003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533080190	chr13:93201007-93201008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368646798	chr13:93201018-93201019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190762172	chr13:93201020-93201021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545560276	chr13:93201049-93201050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565375448	chr13:93201117-93201118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372054989	chr13:93201130-93201131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550911819	chr13:93201232-93201233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75025735	chr13:93201237-93201238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530392599	chr13:93201238-93201239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376130168	chr13:93201260-93201261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546959424	chr13:93201388-93201389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148700204	chr13:93201445-93201446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141245154	chr13:93201511-93201512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150783362	chr13:93201520-93201521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570961671	chr13:93201550-93201551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182607811	chr13:93201617-93201618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556881063	chr13:93201640-93201641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139608752	chr13:93201656-93201657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187617511	chr13:93201676-93201677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376341299	chr13:93201681-93201682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7334188	chr13:93201683-93201684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74436936	chr13:93201698-93201699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565389680	chr13:93201737-93201738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575660792	chr13:93201806-93201807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544303927	chr13:93201811-93201812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144302234	chr13:93201965-93201966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146533391	chr13:93201978-93201979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112977400	chr13:93201983-93201984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560406734	chr13:93202016-93202017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202231214	chr13:93202111-93202112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9561084	chr13:93202118-93202119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34914341	chr13:93202137-93202138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71729036	chr13:93202138-93202139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9589577	chr13:93202139-93202140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549260628	chr13:93202175-93202176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201603985	chr13:93202185-93202186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200060094	chr13:93202187-93202188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201171431	chr13:93202188-93202189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375772797	chr13:93202189-93202190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571023103	chr13:93202215-93202216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191528325	chr13:93202224-93202225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534785081	chr13:93202238-93202239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572486698	chr13:93202245-93202246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567288639	chr13:93202264-93202265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535868259	chr13:93202279-93202280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553308120	chr13:93202294-93202295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551583893	chr13:93202356-93202357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143865180	chr13:93202399-93202400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145857274	chr13:93202415-93202416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93201000-93202400	Enhancers	Fetal Intestine Small	intestine
2	chr13:93201000-93203000	Enhancers	Fetal Intestine Large	intestine
3	chr13:93201200-93202000	Enhancers	Stomach Mucosa	stomach
4	chr13:93201600-93202600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:93202400-93203000	Weak transcription	Fetal Intestine Small	intestine
6	chr13:93202600-93204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:93203000-93203200	Enhancers	Fetal Intestine Small	intestine
8	chr13:93203000-93203800	Weak transcription	Fetal Intestine Large	intestine
9	chr13:93203800-93204000	Enhancers	Fetal Intestine Large	intestine
10	chr13:93204000-93204200	Enhancers	Pancreatic Islets	Pancreatic Islet

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