Variant report

Variant	nsv561699
Chromosome Location	chr13:54433190-54483253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:54411879..54413790-chr13:54440349..54442010,2	K562	blood:
2	chr13:54454384..54456447-chr13:54458357..54461330,3	K562	blood:
3	chr13:54454384..54456139-chr13:54459138..54461330,2	K562	blood:
4	chr13:54454384..54456447-chr13:54458357..54461330,3	K562	blood:
5	chr13:54454384..54456139-chr13:54459138..54461330,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-3	chr13:54447587-54450254	ENSG00000261517.1
2	lnc-OLFM4-10	chr13:54458356-54458818	l_854_chr13:54424438-54458818_testes
3	lnc-OLFM4-10	chr13:54451446-54451527	l_854_chr13:54424438-54458818_testes
4	lnc-OLFM4-10	chr13:54452517-54452560	l_854_chr13:54424438-54458818_testes
5	lnc-OLFM4-3	chr13:54444600-54444662	ENSG00000261517.1

No data

Extended variants
information (count: 544 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:544 , 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	rs9536557	chr13:54433190-54433191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188811870	chr13:54433208-54433209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564128613	chr13:54433227-54433228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9527142	chr13:54433252-54433253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539994076	chr13:54433372-54433373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181957990	chr13:54433444-54433445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12874693	chr13:54433530-54433531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185382829	chr13:54433549-54433550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9527143	chr13:54433563-54433564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532063397	chr13:54433567-54433568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371238168	chr13:54433613-54433614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549630678	chr13:54433617-54433618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527785688	chr13:54433623-54433624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547606416	chr13:54433644-54433645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189499475	chr13:54433672-54433673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563227213	chr13:54433710-54433711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1545659	chr13:54433788-54433789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557261676	chr13:54437005-54437006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577397526	chr13:54437088-54437089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185848994	chr13:54437147-54437148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190375140	chr13:54437152-54437153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570337422	chr13:54437174-54437175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541691793	chr13:54437178-54437179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561634048	chr13:54437224-54437225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562074976	chr13:54437225-54437226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181006650	chr13:54437236-54437237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1343524	chr13:54437244-54437245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563316002	chr13:54437282-54437283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532369631	chr13:54437286-54437287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116127520	chr13:54437299-54437300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565740353	chr13:54437302-54437303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528173119	chr13:54437324-54437325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547740430	chr13:54437380-54437381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138828276	chr13:54437386-54437387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537343983	chr13:54437439-54437440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141979073	chr13:54437446-54437447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74782363	chr13:54437461-54437462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183724181	chr13:54437616-54437617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1350461	chr13:54437664-54437665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572961401	chr13:54437665-54437666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377666493	chr13:54437674-54437675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9568948	chr13:54437693-54437694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139764806	chr13:54437749-54437750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575736259	chr13:54437759-54437760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17088998	chr13:54437770-54437771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142951629	chr13:54437778-54437779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188147834	chr13:54437925-54437926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545936906	chr13:54437929-54437930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559291695	chr13:54437970-54437971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191920835	chr13:54439812-54439813	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54432400-54433600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:54433600-54433800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:54437000-54438000	Enhancers	Fetal Brain Male	brain
4	chr13:54439800-54440800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:54440800-54445200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:54444600-54445600	Enhancers	Fetal Heart	heart
7	chr13:54445000-54445600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:54445000-54445600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:54445200-54445400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:54445200-54445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:54445400-54447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:54445600-54447400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:54446600-54446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:54446800-54448000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:54447000-54447200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:54447200-54448000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:54447400-54447800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:54447400-54448200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:54448000-54448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:54448000-54448200	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:54448000-54448400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:54448000-54450800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:54471000-54471400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:54481800-54483000	Enhancers	Fetal Heart	heart
25	chr13:54482000-54482200	Enhancers	Fetal Brain Male	brain
26	chr13:54482000-54482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:54482000-54482800	Enhancers	Fetal Brain Female	brain
28	chr13:54482200-54482800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:54482600-54482800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:54482600-54482800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:54482600-54482800	Enhancers	Duodenum Mucosa	Duodenum
32	chr13:54482600-54482800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr13:54482800-54483000	Enhancers	Fetal Brain Male	brain
34	chr13:54482800-54483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:54482800-54483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr13:54482800-54483800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr13:54482800-54485200	Weak transcription	Fetal Brain Female	brain
38	chr13:54483000-54484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr13:54483200-54483400	Enhancers	HUES64 Cell Line	embryonic stem cell

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