Variant report

Variant	nsv821674
Chromosome Location	chr13:89712049-89780301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 523 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188983432	chr13:89714268-89714269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193297129	chr13:89714277-89714278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554324220	chr13:89714287-89714288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1159222	chr13:89714311-89714312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552709834	chr13:89714322-89714323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113284672	chr13:89714461-89714462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372198606	chr13:89714487-89714488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569252977	chr13:89714532-89714533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184865366	chr13:89714566-89714567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150453280	chr13:89714591-89714592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77272950	chr13:89714592-89714593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556063775	chr13:89714632-89714633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574540811	chr13:89714692-89714693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374013911	chr13:89714714-89714715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34422707	chr13:89714743-89714744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367550946	chr13:89714781-89714782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34329753	chr13:89714782-89714783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145377633	chr13:89714839-89714840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141355625	chr13:89714854-89714855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555089584	chr13:89714865-89714866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189199810	chr13:89714910-89714911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181523109	chr13:89714948-89714949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199952076	chr13:89714970-89714971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141386205	chr13:89715012-89715013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73585443	chr13:89715131-89715132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73585445	chr13:89715254-89715255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563058408	chr13:89715267-89715268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373565121	chr13:89715271-89715272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530289961	chr13:89715300-89715301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145144618	chr13:89715306-89715307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185967714	chr13:89715328-89715329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34276065	chr13:89715362-89715363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201714759	chr13:89715381-89715382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188720911	chr13:89715383-89715384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548910482	chr13:89715385-89715386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532174714	chr13:89715386-89715387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545635604	chr13:89715393-89715394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181115144	chr13:89715401-89715402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552199455	chr13:89715425-89715426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570491352	chr13:89715447-89715448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77630600	chr13:89715452-89715453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186288184	chr13:89715486-89715487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs796187	chr13:89715502-89715503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535595020	chr13:89715504-89715505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551194666	chr13:89715514-89715515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553722333	chr13:89715580-89715581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142329373	chr13:89715592-89715593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75876697	chr13:89715610-89715611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548486822	chr13:89715622-89715623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558509921	chr13:89715655-89715656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20841430	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89714200-89714600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:89714200-89714600	Enhancers	Gastric	stomach
3	chr13:89714200-89714600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:89714200-89714800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:89714400-89714800	Enhancers	HepG2	liver
6	chr13:89714600-89719400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:89719000-89719400	Enhancers	Primary hematopoietic stem cells	blood
8	chr13:89719000-89719400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:89719200-89719600	Enhancers	Fetal Kidney	kidney
10	chr13:89719400-89719600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:89719400-89719600	Enhancers	Fetal Lung	lung
12	chr13:89719400-89719800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr13:89730400-89730800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:89739800-89740600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr13:89740000-89740600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:89749800-89750000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr13:89749800-89750800	Enhancers	Dnd41	blood
18	chr13:89750000-89750400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:89750000-89750600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:89750000-89750600	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr13:89750600-89750800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr13:89761800-89765400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:89764800-89766000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:89764800-89766800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:89765400-89766600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:89765400-89767200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr13:89765600-89766200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:89765600-89766200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:89765600-89767400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:89766000-89766400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:89766000-89766400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:89766000-89766400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:89766000-89766400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr13:89766000-89767000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:89766400-89767800	Enhancers	HUES48 Cell Line	embryonic stem cell

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