Variant report

Variant	nsv1040530
Chromosome Location	chr13:54493559-54534182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 236 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559521712	chr13:54495662-54495663	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs984276	chr13:54495705-54495706	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs117496393	chr13:54495777-54495778	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561535301	chr13:54495782-54495783	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531185689	chr13:54495785-54495786	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551010323	chr13:54495798-54495799	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544967100	chr13:54495814-54495815	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533394762	chr13:54495834-54495835	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546666338	chr13:54495836-54495837	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139907236	chr13:54495860-54495861	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117181291	chr13:54495874-54495875	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535447509	chr13:54495914-54495915	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555297036	chr13:54495934-54495935	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183741393	chr13:54495997-54495998	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56884830	chr13:54495998-54495999	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114696471	chr13:54513818-54513819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77014018	chr13:54513910-54513911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556738734	chr13:54513923-54513924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7317209	chr13:54513964-54513965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184866021	chr13:54513987-54513988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565139612	chr13:54513999-54514000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552143938	chr13:54514006-54514007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577842916	chr13:54514043-54514044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189238983	chr13:54514072-54514073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560281591	chr13:54514146-54514147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529082099	chr13:54514152-54514153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542312085	chr13:54514156-54514157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562203219	chr13:54514174-54514175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571905076	chr13:54514179-54514180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531308273	chr13:54514267-54514268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551327582	chr13:54514290-54514291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571170468	chr13:54514339-54514340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80334969	chr13:54514345-54514346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200893512	chr13:54514348-54514349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74786989	chr13:54514349-54514350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372802169	chr13:54514364-54514365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527967808	chr13:54514413-54514414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547801139	chr13:54514451-54514452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567853749	chr13:54514494-54514495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73505403	chr13:54514585-54514586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9563194	chr13:54514668-54514669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192781441	chr13:54514702-54514703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1334217	chr13:54514731-54514732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74639464	chr13:54514783-54514784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1334216	chr13:54514849-54514850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558879989	chr13:54514858-54514859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572384356	chr13:54514875-54514876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79502555	chr13:54514905-54514906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553828350	chr13:54514967-54514968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1334215	chr13:54515022-54515023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54495600-54495800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:54495600-54496000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:54495800-54496000	Enhancers	Pancreas	Pancrea
4	chr13:54513600-54514000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:54513800-54514000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:54513800-54516200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:54514000-54515000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:54514000-54516400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:54515000-54516000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:54515000-54516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:54515000-54516400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:54515000-54516400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:54515600-54515800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:54515600-54516200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:54515600-54516400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:54515800-54516200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:54515800-54516600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:54516000-54516200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr13:54516000-54516200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr13:54516000-54516400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr13:54516000-54516600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:54516200-54516400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr13:54516200-54516400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:54516200-54516600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:54516400-54516600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:54516400-54516800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr13:54516400-54516800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr13:54516400-54517000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr13:54516400-54517000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr13:54516600-54516800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr13:54520600-54521000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:54527400-54527800	Enhancers	Fetal Brain Female	brain
33	chr13:54527400-54527800	Enhancers	Fetal Stomach	stomach
34	chr13:54527400-54528600	Enhancers	Rectal Smooth Muscle	rectum
35	chr13:54527600-54528200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:54527600-54528800	Enhancers	Fetal Heart	heart
37	chr13:54528600-54530600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:54530600-54530800	Enhancers	Rectal Smooth Muscle	rectum

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