Variant report

Variant	esv3429946
Chromosome Location	chr13:89408000-89434631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573328604	chr13:89412408-89412409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34749616	chr13:89412440-89412441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113178258	chr13:89412442-89412443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74860890	chr13:89412503-89412504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7339117	chr13:89412511-89412512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185944851	chr13:89412515-89412516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1326441	chr13:89412522-89412523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117582508	chr13:89412530-89412531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562381656	chr13:89412532-89412533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1326440	chr13:89412542-89412543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372215870	chr13:89412566-89412567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559822953	chr13:89412608-89412609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189039914	chr13:89412652-89412653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551973991	chr13:89412723-89412724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570647111	chr13:89412757-89412758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9588392	chr13:89412774-89412775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531542008	chr13:89412834-89412835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550040072	chr13:89412864-89412865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569202708	chr13:89412887-89412888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536654347	chr13:89412901-89412902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548562681	chr13:89412957-89412958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538319972	chr13:89412959-89412960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566989111	chr13:89412994-89412995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140484738	chr13:89413036-89413037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559225270	chr13:89413051-89413052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371631026	chr13:89413089-89413090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566441325	chr13:89413135-89413136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181538570	chr13:89413146-89413147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556815846	chr13:89413176-89413177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574990523	chr13:89413177-89413178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570351506	chr13:89413213-89413214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553323331	chr13:89413239-89413240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571835374	chr13:89413244-89413245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142140179	chr13:89413286-89413287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545477134	chr13:89413349-89413350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150434234	chr13:89413354-89413355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61963782	chr13:89413412-89413413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543206924	chr13:89413416-89413417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562025969	chr13:89413472-89413473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529143217	chr13:89413503-89413504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147716129	chr13:89413515-89413516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138959702	chr13:89413564-89413565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539583705	chr13:89413569-89413570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76763294	chr13:89413574-89413575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552699030	chr13:89413640-89413641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554396938	chr13:89413657-89413658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570807024	chr13:89413661-89413662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369195322	chr13:89413666-89413667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75248277	chr13:89413670-89413671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556445036	chr13:89413684-89413685	Enhancers	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
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
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89412400-89413800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:89413000-89413400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:89413200-89413600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:89415800-89416600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:89415800-89416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:89415800-89417200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:89416000-89416800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:89416000-89417200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:89416200-89417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:89416400-89416800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr13:89416600-89417000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:89416600-89417200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr13:89416800-89417200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:89433800-89434200	Enhancers	HUES6 Cell Line	embryonic stem cell

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