Variant report

Variant	nsv1050242
Chromosome Location	chr13:84633380-84661162
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:84645143..84647246-chr13:84647869..84650836,2	K562	blood:
2	chr13:84651467..84654001-chr13:84656422..84658484,2	MCF-7	breast:
3	chr13:84651467..84654001-chr13:84656422..84658484,2	MCF-7	breast:
4	chr13:84645143..84647246-chr13:84647869..84650836,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK1-1	chr13:84655952-84656044	XLOC_010674
2	lnc-SLITRK1-1	chr13:84655951-84656044	NONHSAT034547
3	lnc-SLITRK1-1	chr13:84638834-84639060	NONHSAT034547
4	lnc-SLITRK1-1	chr13:84638835-84639060	XLOC_010674

No data

Extended variants
information (count: 144 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113405454	chr13:84638836-84638837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs149619343	chr13:84638845-84638846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs182531842	chr13:84638895-84638896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs562711135	chr13:84638974-84638975	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs546012419	chr13:84638984-84638985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187110869	chr13:84638992-84638993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78753258	chr13:84639024-84639025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs561348465	chr13:84639051-84639052	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547893398	chr13:84649006-84649007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370271221	chr13:84649191-84649192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189594510	chr13:84649193-84649194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536698089	chr13:84649199-84649200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536384139	chr13:84649203-84649204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181370434	chr13:84649215-84649216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570352692	chr13:84649263-84649264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534240324	chr13:84649273-84649274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114160077	chr13:84649320-84649321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9546592	chr13:84649363-84649364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186949497	chr13:84649496-84649497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555146934	chr13:84649517-84649518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574877432	chr13:84649557-84649558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543873363	chr13:84649570-84649571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140757160	chr13:84649574-84649575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367608769	chr13:84649592-84649593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577040955	chr13:84649609-84649610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545796477	chr13:84649618-84649619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574329667	chr13:84649698-84649699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572352554	chr13:84649707-84649708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559461126	chr13:84649769-84649770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150089393	chr13:84649798-84649799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547881345	chr13:84649849-84649850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561478077	chr13:84649893-84649894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138414618	chr13:84649927-84649928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543108612	chr13:84649987-84649988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550519909	chr13:84649989-84649990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148821556	chr13:84649994-84649995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115021699	chr13:84650033-84650034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190583110	chr13:84650048-84650049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552596957	chr13:84650074-84650075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535219082	chr13:84650128-84650129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566272868	chr13:84650162-84650163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535273998	chr13:84650169-84650170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555085407	chr13:84650215-84650216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575015801	chr13:84650414-84650415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371758699	chr13:84650415-84650416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182011927	chr13:84650426-84650427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557290843	chr13:84650443-84650444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577179889	chr13:84650503-84650504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146913882	chr13:84650609-84650610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139318475	chr13:84650624-84650625	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84649000-84650600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:84649200-84650000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:84649200-84650200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:84649400-84651400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:84650000-84650600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:84650600-84650800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:84659600-84659800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:84660200-84660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:84660200-84661000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr13:84660200-84661800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:84660200-84661800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:84660400-84660600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:84660400-84661000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:84660400-84661000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:84660400-84661000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:84660400-84661000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:84660400-84661000	Active TSS	Ovary	ovary
18	chr13:84660400-84661200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:84660400-84661200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr13:84660400-84661200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:84660400-84661200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr13:84660400-84661200	Active TSS	Pancreas	Pancrea
23	chr13:84660400-84661200	Active TSS	Right Ventricle	heart
24	chr13:84660400-84661200	Active TSS	Stomach Smooth Muscle	stomach
25	chr13:84660400-84661200	Active TSS	Thymus	Thymus
26	chr13:84660400-84661400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr13:84660400-84661800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:84660600-84661000	Active TSS	Left Ventricle	heart
29	chr13:84660600-84661200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr13:84660600-84661800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:84660600-84662000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr13:84660800-84661200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:84661000-84661400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr13:84661000-84661400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:84661000-84661400	Active TSS	Osteobl	bone

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