Variant report

Variant	nsv900787
Chromosome Location	chr13:88554160-88680762
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:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:95255999..95256872-chr13:88573166..88573666,2	Hela-S3	cervix:
2	chr13:88332679..88333285-chr13:88652174..88653031,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-17	chr13:88668490-88668550	NONHSAT034605
2	lnc-SLITRK6-17	chr13:88670789-88670814	NONHSAT034606
3	lnc-SLITRK6-17	chr13:88665151-88665582	NONHSAT034606
4	lnc-SLITRK6-17	chr13:88670789-88670814	NONHSAT034605
5	lnc-SLITRK6-17	chr13:88668490-88668550	NONHSAT034606
6	lnc-SLITRK6-17	chr13:88666229-88666396	NONHSAT034606
7	lnc-SLITRK6-17	chr13:88669827-88669964	NONHSAT034605
8	lnc-SLITRK6-17	chr13:88665102-88665582	NONHSAT034605

No data

Variant related genes	Relation type
ENSG00000138180	chromatin interactions

Extended variants
information (count: 1766 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1766 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73569258	chr13:88555023-88555024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557573534	chr13:88555060-88555061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60435427	chr13:88555146-88555147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141530829	chr13:88555169-88555170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373470810	chr13:88555197-88555198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550860157	chr13:88555204-88555205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562695822	chr13:88555205-88555206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67129260	chr13:88555236-88555237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62782864	chr13:88555248-88555249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529894008	chr13:88555314-88555315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191849189	chr13:88555317-88555318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566435548	chr13:88555336-88555337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60032583	chr13:88555339-88555340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535928392	chr13:88555346-88555347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146195535	chr13:88555486-88555487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181577330	chr13:88555551-88555552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570073386	chr13:88555570-88555571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148425563	chr13:88555576-88555577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556410413	chr13:88555587-88555588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574717581	chr13:88555627-88555628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142579238	chr13:88555634-88555635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72641934	chr13:88555677-88555678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572503115	chr13:88555689-88555690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185681923	chr13:88555729-88555730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369426129	chr13:88555783-88555784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546240524	chr13:88555882-88555883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190499802	chr13:88555892-88555893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576478086	chr13:88555901-88555902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544546826	chr13:88555923-88555924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562756528	chr13:88555924-88555925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528836628	chr13:88555941-88555942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529956656	chr13:88555946-88555947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541655319	chr13:88556011-88556012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182686296	chr13:88556030-88556031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150963528	chr13:88556076-88556077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552213135	chr13:88556099-88556100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570131975	chr13:88556131-88556132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531184124	chr13:88556174-88556175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139551570	chr13:88556180-88556181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550092727	chr13:88556199-88556200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568413828	chr13:88556209-88556210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535026272	chr13:88556240-88556241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536101332	chr13:88556241-88556242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554085177	chr13:88556259-88556260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77393520	chr13:88556275-88556276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76703217	chr13:88556290-88556291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116949982	chr13:88556295-88556296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576541955	chr13:88556300-88556301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144419722	chr13:88556323-88556324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186958283	chr13:88556331-88556332	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	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
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
Breast cancer	17142309	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88555000-88556400	Enhancers	Fetal Lung	lung
2	chr13:88555600-88556000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:88555800-88556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:88556200-88556600	Enhancers	Fetal Muscle Leg	muscle
5	chr13:88556200-88556800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:88572200-88573000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:88572200-88573800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:88572400-88572600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:88572400-88573600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:88574400-88574800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:88587800-88588200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:88593200-88593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:88593400-88593800	Enhancers	Fetal Lung	lung
14	chr13:88593400-88594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:88593600-88595000	Enhancers	Fetal Kidney	kidney
16	chr13:88593800-88594200	Weak transcription	Fetal Lung	lung
17	chr13:88594000-88595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:88594200-88595200	Enhancers	Fetal Lung	lung
19	chr13:88594400-88595000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:88595000-88596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:88596200-88596400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:88601200-88602600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:88602600-88604600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:88604600-88606800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:88606800-88607400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:88607400-88607600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:88614400-88614800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:88614800-88617400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:88615600-88617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:88617400-88618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:88619600-88622200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:88626800-88627000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:88626800-88627600	Enhancers	HSMM	muscle
34	chr13:88627000-88627400	Enhancers	HMEC	breast
35	chr13:88627000-88627800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:88627000-88627800	Enhancers	NHEK	skin
37	chr13:88627200-88627600	Active TSS	HSMMtube	muscle
38	chr13:88633600-88634000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:88633600-88634200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr13:88633800-88634600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:88634400-88635000	Enhancers	Fetal Brain Male	brain
42	chr13:88650400-88650800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:88650400-88650800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:88650400-88651200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:88650800-88652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:88651200-88651400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:88651200-88651400	Weak transcription	HSMM	muscle
48	chr13:88651200-88652800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:88651200-88653000	Enhancers	NH-A	brain
50	chr13:88651400-88652800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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