Variant report

Variant	esv2759955
Chromosome Location	chr13:85548594-85554591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 253 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9575699	chr13:85548594-85548595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71208662	chr13:85548645-85548646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77680017	chr13:85548647-85548648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61674775	chr13:85548649-85548650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398056639	chr13:85548667-85548668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372261914	chr13:85548689-85548690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571064823	chr13:85548710-85548711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538491404	chr13:85548747-85548748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2454962	chr13:85548756-85548757	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575140515	chr13:85548780-85548781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535906110	chr13:85548785-85548786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558301326	chr13:85548829-85548830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112714060	chr13:85548880-85548881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540031276	chr13:85548888-85548889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564698919	chr13:85548893-85548894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576632071	chr13:85548922-85548923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72633313	chr13:85548929-85548930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562458228	chr13:85548955-85548956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66964856	chr13:85549004-85549005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111581581	chr13:85549007-85549008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201798872	chr13:85549008-85549009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9546999	chr13:85549012-85549013	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76260164	chr13:85549030-85549031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552705349	chr13:85549044-85549045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188767144	chr13:85549147-85549148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545244140	chr13:85549166-85549167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531954705	chr13:85549171-85549172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550476475	chr13:85549178-85549179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74659058	chr13:85549184-85549185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9547000	chr13:85549213-85549214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74339871	chr13:85549280-85549281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9531685	chr13:85549282-85549283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533596512	chr13:85549296-85549297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558252783	chr13:85549306-85549307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192080247	chr13:85549311-85549312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576594432	chr13:85549315-85549316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371827230	chr13:85549341-85549342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560944550	chr13:85549342-85549343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2496754	chr13:85549544-85549545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78328007	chr13:85549555-85549556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574683592	chr13:85549590-85549591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139707852	chr13:85549598-85549599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560238625	chr13:85549631-85549632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149768453	chr13:85549675-85549676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9531686	chr13:85549736-85549737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
46	rs533460742	chr13:85549740-85549741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183424795	chr13:85549768-85549769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531923114	chr13:85549772-85549773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371511664	chr13:85549847-85549848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578170239	chr13:85549879-85549880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85547800-85548600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:85547800-85548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:85547800-85548600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:85547800-85549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:85548000-85548600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:85548000-85548600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:85548200-85548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:85548400-85552400	Weak transcription	Fetal Kidney	kidney
9	chr13:85548600-85549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:85548600-85550000	Enhancers	Primary B cells from cord blood	blood
11	chr13:85549000-85549200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:85549200-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:85549400-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:85552400-85553000	Enhancers	Fetal Kidney	kidney
15	chr13:85552600-85553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:85552600-85555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:85553200-85554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:85554200-85555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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