Variant report

Variant	nsv562622
Chromosome Location	chr13:87204838-87338840
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:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:87315449..87317669-chr13:87358524..87360044,2	K562	blood:
2	chr13:87248984..87251964-chr17:56706206..56708752,2	K562	blood:
3	chr13:87248984..87250484-chr17:56706669..56710573,3	MCF-7	breast:
4	chr13:87219074..87220049-chr13:87393792..87394360,2	MCF-7	breast:
5	chr13:87219118..87219726-chr13:87393723..87394529,2	MCF-7	breast:
6	chr13:87219147..87219853-chr13:87926507..87927098,2	MCF-7	breast:
7	chr13:87241740..87242445-chr18:33767395..33768288,2	Hela-S3	cervix:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-20	chr13:87253266-87253330	NONHSAT034579
2	lnc-SLITRK5-20	chr13:87254030-87254064	NONHSAT034579
3	lnc-SLITRK5-20	chr13:87251292-87251535	NONHSAT034579

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000260552	chromatin interactions
ENSG00000075643	chromatin interactions

Extended variants
information (count: 1360 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1360 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192474465	chr13:87212111-87212112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34601078	chr13:87212132-87212133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1328842	chr13:87212185-87212186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546337328	chr13:87212205-87212206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548676098	chr13:87212245-87212246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571500415	chr13:87212253-87212254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9560272	chr13:87212286-87212287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147037089	chr13:87212298-87212299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562160156	chr13:87212393-87212394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569419361	chr13:87212440-87212441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184892358	chr13:87212443-87212444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554626840	chr13:87212464-87212465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147679631	chr13:87212535-87212536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529651307	chr13:87212723-87212724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534283600	chr13:87212746-87212747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187896207	chr13:87212754-87212755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577890551	chr13:87212765-87212766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9560276	chr13:87212858-87212859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557208381	chr13:87212864-87212865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575409378	chr13:87212892-87212893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542913822	chr13:87212897-87212898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560721703	chr13:87212898-87212899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9560277	chr13:87212913-87212914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539926709	chr13:87212927-87212928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191992544	chr13:87212968-87212969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184591667	chr13:87212982-87212983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189454684	chr13:87212983-87212984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148344928	chr13:87213008-87213009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530283036	chr13:87213024-87213025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548910183	chr13:87213029-87213030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9560278	chr13:87213040-87213041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534213716	chr13:87213058-87213059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559015182	chr13:87213068-87213069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570924359	chr13:87213080-87213081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150473105	chr13:87213104-87213105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181221686	chr13:87213105-87213106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9583673	chr13:87213123-87213124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369415725	chr13:87213126-87213127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9560279	chr13:87213142-87213143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67746411	chr13:87213151-87213152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370972188	chr13:87213188-87213189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117564450	chr13:87213211-87213212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116158929	chr13:87213216-87213217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565451547	chr13:87213252-87213253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532668603	chr13:87213262-87213263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554885508	chr13:87213345-87213346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11842820	chr13:87213347-87213348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78471707	chr13:87213356-87213357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564551423	chr13:87213365-87213366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138483539	chr13:87213400-87213401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87212000-87212400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:87212200-87212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr13:87212200-87212600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:87212200-87212600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:87212200-87212600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:87212400-87215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:87212600-87215400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:87212600-87215600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:87215200-87216400	Enhancers	HMEC	breast
10	chr13:87215200-87216400	Enhancers	NH-A	brain
11	chr13:87215200-87216600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:87215400-87216400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:87215600-87216000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:87216400-87217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:87216600-87223400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:87217200-87217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:87217400-87223000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:87223000-87225400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:87223400-87225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:87223600-87224200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:87223600-87224600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:87223600-87224800	Enhancers	NH-A	brain
23	chr13:87223800-87224800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr13:87224000-87224600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr13:87224000-87224800	Enhancers	HMEC	breast
26	chr13:87224200-87224600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr13:87224200-87224600	Enhancers	Hela-S3	cervix
28	chr13:87224400-87225000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:87231000-87231400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:87231000-87231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:87231800-87233200	Enhancers	Fetal Heart	heart
32	chr13:87233200-87237400	Weak transcription	Fetal Heart	heart
33	chr13:87234000-87235000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:87235000-87237000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:87237000-87237800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:87237000-87239200	Enhancers	Fetal Stomach	stomach
37	chr13:87237200-87239000	Enhancers	Colon Smooth Muscle	Colon
38	chr13:87237400-87238200	Enhancers	Rectal Smooth Muscle	rectum
39	chr13:87237400-87239200	Enhancers	Fetal Heart	heart
40	chr13:87237600-87237800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:87237600-87238800	Enhancers	Fetal Lung	lung
42	chr13:87237600-87239200	Enhancers	Adipose Nuclei	Adipose
43	chr13:87237600-87239200	Enhancers	Fetal Muscle Leg	muscle
44	chr13:87237800-87238200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:87237800-87238800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:87238000-87238400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:87238200-87239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:87238600-87239000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:87238600-87239200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr13:87238600-87239200	Enhancers	Fetal Muscle Trunk	muscle

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