Variant report

Variant	nsv974135
Chromosome Location	chr13:93316448-93318889
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	chr13:93316466..93319082-chr13:93326794..93329759,2	K562	blood:
2	chr13:93281680..93284628-chr13:93314114..93316635,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532505555	chr13:93316482-93316483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34848162	chr13:93316485-93316486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552241412	chr13:93316489-93316490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72641038	chr13:93316502-93316503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184186703	chr13:93316534-93316535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186756989	chr13:93316536-93316537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568678538	chr13:93316580-93316581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117529004	chr13:93316583-93316584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547678274	chr13:93316604-93316605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374984302	chr13:93316608-93316609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570985084	chr13:93316614-93316615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60638871	chr13:93316621-93316622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71202554	chr13:93316622-93316623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34073544	chr13:93316625-93316626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538780148	chr13:93316630-93316631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558683459	chr13:93316723-93316724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539721020	chr13:93316774-93316775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9589615	chr13:93316777-93316778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4418924	chr13:93316787-93316788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574645500	chr13:93316800-93316801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545109246	chr13:93316823-93316824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4459436	chr13:93316835-93316836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560127184	chr13:93316852-93316853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9516111	chr13:93316973-93316974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550110891	chr13:93317015-93317016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2152926	chr13:93317018-93317019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562629150	chr13:93317025-93317026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34521935	chr13:93317041-93317042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182313003	chr13:93317105-93317106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562068763	chr13:93317117-93317118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527986955	chr13:93317135-93317136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187024655	chr13:93317228-93317229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566682191	chr13:93317257-93317258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113778095	chr13:93317265-93317266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375402614	chr13:93317270-93317271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77631769	chr13:93317271-93317272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550362577	chr13:93317285-93317286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111528234	chr13:93317291-93317292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34378377	chr13:93317316-93317317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537894152	chr13:93317325-93317326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562924288	chr13:93317326-93317327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554275433	chr13:93317348-93317349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574362761	chr13:93317358-93317359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533887246	chr13:93317419-93317420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554010701	chr13:93317439-93317440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9589616	chr13:93317494-93317495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191840363	chr13:93317505-93317506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185070430	chr13:93317567-93317568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151305288	chr13:93317573-93317574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188781861	chr13:93317583-93317584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93307400-93321800	Weak transcription	Right Atrium	heart

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