Variant report

Variant	nsv818961
Chromosome Location	chr13:54481822-54492154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1573217	chr13:54481822-54481823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539423679	chr13:54481831-54481832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185609611	chr13:54481895-54481896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559616302	chr13:54481911-54481912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138329179	chr13:54481926-54481927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2032029	chr13:54481935-54481936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142820885	chr13:54481947-54481948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561762282	chr13:54481956-54481957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374272738	chr13:54481958-54481959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145026842	chr13:54482030-54482031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190167037	chr13:54482043-54482044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183170261	chr13:54482094-54482095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138808285	chr13:54482109-54482110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56280642	chr13:54482142-54482143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111530917	chr13:54482154-54482155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55667713	chr13:54482171-54482172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188398363	chr13:54482179-54482180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74078736	chr13:54482202-54482203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193033258	chr13:54482254-54482255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569118761	chr13:54482295-54482296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567349387	chr13:54482392-54482393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557853398	chr13:54482403-54482404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116645628	chr13:54482475-54482476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373562560	chr13:54482505-54482506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74078737	chr13:54482559-54482560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144829200	chr13:54482639-54482640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573138015	chr13:54482647-54482648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184071980	chr13:54482662-54482663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561823143	chr13:54482668-54482669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576483763	chr13:54482786-54482787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536237406	chr13:54482805-54482806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544294599	chr13:54482806-54482807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370062961	chr13:54482867-54482868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113092638	chr13:54482894-54482895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148579109	chr13:54482901-54482902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546624722	chr13:54482902-54482903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375901686	chr13:54482916-54482917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569551634	chr13:54482924-54482925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529553306	chr13:54482939-54482940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117239323	chr13:54482962-54482963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187874861	chr13:54482991-54482992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558467887	chr13:54483020-54483021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538066103	chr13:54483024-54483025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551446575	chr13:54483032-54483033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571436203	chr13:54483102-54483103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191528275	chr13:54483112-54483113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183716093	chr13:54483114-54483115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540224057	chr13:54483115-54483116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573958891	chr13:54483133-54483134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141954461	chr13:54483153-54483154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54481800-54483000	Enhancers	Fetal Heart	heart
2	chr13:54482000-54482200	Enhancers	Fetal Brain Male	brain
3	chr13:54482000-54482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:54482000-54482800	Enhancers	Fetal Brain Female	brain
5	chr13:54482200-54482800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:54482600-54482800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:54482600-54482800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:54482600-54482800	Enhancers	Duodenum Mucosa	Duodenum
9	chr13:54482600-54482800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:54482800-54483000	Enhancers	Fetal Brain Male	brain
11	chr13:54482800-54483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:54482800-54483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:54482800-54483800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:54482800-54485200	Weak transcription	Fetal Brain Female	brain
15	chr13:54483000-54484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr13:54483200-54483400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:54483400-54484400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:54483800-54484200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:54483800-54484200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:54483800-54484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:54483800-54484400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:54483800-54484400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:54483800-54484800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:54483800-54485200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:54483800-54485800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:54483800-54486200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:54484000-54484200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:54484000-54485600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:54484200-54485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:54484400-54485200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:54484400-54485200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:54485200-54485600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:54485200-54485800	Enhancers	Fetal Brain Female	brain
34	chr13:54485200-54486200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:54485600-54485800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:54485800-54486000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:54485800-54486200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr13:54485800-54486600	Weak transcription	Fetal Brain Female	brain
39	chr13:54486000-54486400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr13:54486200-54486400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:54486400-54487200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:54486600-54486800	Enhancers	Fetal Brain Female	brain

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