Variant report

Variant	nsv541778
Chromosome Location	chr13:54777487-54997866
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:7)
LncRNA
region (count:12)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:54780172..54782257-chr13:54783482..54785302,2	MCF-7	breast:
2	chr13:54831947..54834177-chr13:54836785..54838998,2	MCF-7	breast:
3	chr13:54831947..54834177-chr13:54836785..54838998,2	MCF-7	breast:
4	chr12:69753072..69753843-chr13:54974786..54975305,2	HCT-116	colon:
5	chr13:54766693..54769398-chr13:54785918..54788383,2	MCF-7	breast:
6	chr13:54966032..54966839-chr5:116662215..116662871,2	MCF-7	breast:
7	chr13:54780172..54782257-chr13:54783482..54785302,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-4	chr13:54813124-54813153	NONHSAT034030
2	lnc-OLFM4-4	chr13:54813174-54813188	NONHSAT034030
3	lnc-OLFM4-4	chr13:54909166-54909278	NONHSAT034030
4	lnc-OLFM4-4	chr13:54927277-54927951	XLOC_010399
5	lnc-OLFM4-4	chr13:54817928-54819360	NONHSAT034031
6	lnc-OLFM4-4	chr13:54916455-54916627	NONHSAT034030
7	lnc-OLFM4-4	chr13:54916093-54916625	XLOC_010399
8	lnc-OLFM4-4	chr13:54843168-54843542	NONHSAT034030
9	lnc-OLFM4-4	chr13:54817929-54818572	NONHSAT034030
10	lnc-OLFM4-4	chr13:54927240-54927716	NONHSAT034030
11	lnc-OLFM4-4	chr13:54916101-54916299	NONHSAT034030
12	lnc-OLFM4-4	chr13:54812998-54813118	NONHSAT034030

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1297	chr13:54886116-54886132	MIMAT0005886

No data

Variant related genes	Relation type
ENSG00000127337	chromatin interactions
TRIB2	Mature miRNA region

Extended variants
information (count: 7529 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:7529 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143101472	chr13:54777515-54777516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148219721	chr13:54777558-54777559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377371466	chr13:54777722-54777723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539714564	chr13:54777730-54777731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79356021	chr13:54777737-54777738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6420308	chr13:54777782-54777783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs182990846	chr13:54777833-54777834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546230996	chr13:54777839-54777840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532760707	chr13:54777843-54777844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555015542	chr13:54777872-54777873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376076376	chr13:54777896-54777897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111895626	chr13:54777911-54777912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147349056	chr13:54777916-54777917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566289992	chr13:54777939-54777940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557725234	chr13:54777940-54777941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538976052	chr13:54777999-54778000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374605060	chr13:54778023-54778024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116404099	chr13:54778087-54778088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560684465	chr13:54778097-54778098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529484698	chr13:54778176-54778177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543222818	chr13:54778218-54778219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563008370	chr13:54778273-54778274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531824445	chr13:54778279-54778280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368744042	chr13:54778296-54778297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528771112	chr13:54778340-54778341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571567764	chr13:54778348-54778349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372053075	chr13:54778379-54778380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185867986	chr13:54778380-54778381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546453480	chr13:54778416-54778417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191616905	chr13:54778427-54778428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566351228	chr13:54778439-54778440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535293388	chr13:54778457-54778458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547910458	chr13:54778473-54778474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555126850	chr13:54778515-54778516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568900130	chr13:54778543-54778544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537900916	chr13:54778588-54778589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137873471	chr13:54778663-54778664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182643850	chr13:54778698-54778699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373762019	chr13:54778723-54778724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540951168	chr13:54778732-54778733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568026020	chr13:54778734-54778735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2409028	chr13:54778746-54778747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372161137	chr13:54778762-54778763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565169436	chr13:54778768-54778769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5803688	chr13:54778769-54778770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76460372	chr13:54778786-54778787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1832015	chr13:54778791-54778792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192167645	chr13:54778829-54778830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563097707	chr13:54778841-54778842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9568996	chr13:54778872-54778873	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54770600-54781000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:54775200-54780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:54775200-54781000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:54775600-54784600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:54775800-54779400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:54779400-54782000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:54779600-54781800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:54780200-54782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:54780800-54781600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:54780800-54782400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:54781000-54782400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:54781000-54783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:54781600-54784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:54781800-54784600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:54782000-54784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:54782400-54784600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:54782400-54784800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:54782600-54786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:54783000-54784000	Enhancers	NHEK	skin
20	chr13:54783200-54785400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:54783600-54784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:54783600-54784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:54784000-54784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:54784000-54784400	Weak transcription	NHEK	skin
25	chr13:54784400-54785400	Enhancers	NHEK	skin
26	chr13:54784400-54785600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:54784600-54785000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:54784600-54785000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:54784600-54785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:54784600-54785200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:54784600-54785200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr13:54784600-54785200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:54784600-54785200	Enhancers	Adipose Nuclei	Adipose
34	chr13:54784600-54785400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:54784600-54785400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:54784600-54785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:54784600-54785400	Enhancers	HMEC	breast
38	chr13:54784600-54785600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr13:54784600-54785600	Enhancers	Placenta	Placenta
40	chr13:54784600-54786400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr13:54784800-54785200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:54784800-54785200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr13:54784800-54785400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:54784800-54785800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:54785400-54785800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:54785400-54792000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:54785800-54787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:54787000-54787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:54787600-54787800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:54792000-54793000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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