Variant report

Variant	esv3324146
Chromosome Location	chr13:89034101-89037599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186377551	chr13:89034165-89034166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144790328	chr13:89034179-89034180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546845933	chr13:89034180-89034181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547305574	chr13:89034187-89034188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114166397	chr13:89034229-89034230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148582656	chr13:89034269-89034270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539864364	chr13:89034313-89034314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558494097	chr13:89034345-89034346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528806280	chr13:89034348-89034349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114732633	chr13:89034424-89034425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562442657	chr13:89034425-89034426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534301164	chr13:89034442-89034443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566568854	chr13:89034466-89034467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190689380	chr13:89034469-89034470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182925187	chr13:89034485-89034486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560473328	chr13:89034494-89034495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527552370	chr13:89034511-89034512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546691562	chr13:89034533-89034534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571574032	chr13:89034546-89034547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532501270	chr13:89034622-89034623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551099610	chr13:89034634-89034635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188268551	chr13:89034746-89034747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532289538	chr13:89034793-89034794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374381139	chr13:89034837-89034838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536482049	chr13:89034896-89034897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551997661	chr13:89034914-89034915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554721416	chr13:89034915-89034916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192550169	chr13:89034978-89034979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9520466	chr13:89035009-89035010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142998724	chr13:89035056-89035057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151137202	chr13:89035057-89035058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543857539	chr13:89035065-89035066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577630267	chr13:89035116-89035117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs338694	chr13:89035127-89035128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574566123	chr13:89035134-89035135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551742692	chr13:89035302-89035303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542064731	chr13:89035304-89035305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560352034	chr13:89035309-89035310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11069690	chr13:89035453-89035454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546030462	chr13:89035516-89035517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183234520	chr13:89035527-89035528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139128690	chr13:89035528-89035529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532578122	chr13:89035578-89035579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143996726	chr13:89035594-89035595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562670400	chr13:89035602-89035603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573509025	chr13:89035648-89035649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187766186	chr13:89035687-89035688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75099137	chr13:89035714-89035715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76306576	chr13:89035741-89035742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534129228	chr13:89035775-89035776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Developmental delay	21147756	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
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-small cell lung cancer	16651412	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89028000-89036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:89035800-89037400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:89036200-89038200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:89036400-89036800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:89036600-89037000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:89036600-89037600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:89036800-89037000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr13:89036800-89037800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:89037000-89037200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr13:89037200-89037400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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