Variant report

Variant	nsv562642
Chromosome Location	chr13:90355675-90448341
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:90436471..90441172-chr13:90442955..90446450,4	K562	blood:
2	chr13:90442816..90446344-chr13:90446714..90450498,3	K562	blood:
3	chr13:90418481..90420847-chr13:90437525..90440214,2	MCF-7	breast:
4	chr13:90438180..90442021-chr13:90442191..90444686,4	K562	blood:
5	chr13:90438180..90442021-chr13:90442191..90444686,4	K562	blood:
6	chr13:90436471..90441172-chr13:90442955..90446450,4	K562	blood:
7	chr13:81107224..81110748-chr13:90439942..90442170,3	K562	blood:
8	chr13:90418481..90420847-chr13:90437525..90440214,2	MCF-7	breast:
9	chr13:81107870..81110072-chr13:90437576..90439628,3	K562	blood:
10	chr13:90442816..90446344-chr13:90446714..90450498,3	K562	blood:
11	chr13:81104877..81107145-chr13:90439895..90442181,2	K562	blood:
12	chr13:81108572..81110898-chr13:90437772..90440257,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-26	chr13:90376736-90376852	NONHSAT034635
2	lnc-SLITRK6-26	chr13:90361586-90361709	NONHSAT034635

No data

Extended variants
information (count: 2082 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574491683	chr13:90361612-90361613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138288750	chr13:90361616-90361617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs568532538	chr13:90361650-90361651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185293215	chr13:90361651-90361652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs570247916	chr13:90361707-90361708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs142959831	chr13:90361806-90361807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555845811	chr13:90361825-90361826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182100756	chr13:90361844-90361845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541199122	chr13:90361855-90361856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559170835	chr13:90361889-90361890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs380396	chr13:90361893-90361894	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572556101	chr13:90361904-90361905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs381594	chr13:90361925-90361926	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546151869	chr13:90361931-90361932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74108757	chr13:90361933-90361934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370550118	chr13:90361934-90361935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188904602	chr13:90361968-90361969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376634222	chr13:90362023-90362024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576910477	chr13:90362104-90362105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567336279	chr13:90362139-90362140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112729051	chr13:90362142-90362143	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs71444046	chr13:90362187-90362188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9522645	chr13:90362264-90362265	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9522646	chr13:90362267-90362268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115962752	chr13:90362275-90362276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs193229046	chr13:90362296-90362297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569918886	chr13:90362304-90362305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs394197	chr13:90362309-90362310	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs418841	chr13:90362315-90362316	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575809017	chr13:90362333-90362334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574076935	chr13:90362347-90362348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183620600	chr13:90362350-90362351	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560573114	chr13:90362370-90362371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs144315338	chr13:90362374-90362375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114560579	chr13:90375634-90375635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146031920	chr13:90375687-90375688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117950838	chr13:90375707-90375708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148680699	chr13:90375709-90375710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368407194	chr13:90375745-90375746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540898501	chr13:90375750-90375751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544738818	chr13:90375751-90375752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193170226	chr13:90375775-90375776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529898173	chr13:90375818-90375819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141096225	chr13:90375841-90375842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75908322	chr13:90375883-90375884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541265103	chr13:90375900-90375901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185106113	chr13:90375902-90375903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9522661	chr13:90375917-90375918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370264340	chr13:90375918-90375919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552113140	chr13:90375929-90375930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90361800-90362400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr13:90375600-90389600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:90378400-90379800	Enhancers	HMEC	breast
4	chr13:90378800-90379200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:90379000-90379800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:90379000-90380000	Enhancers	HUVEC	blood vessel
7	chr13:90379200-90379800	Enhancers	NH-A	brain
8	chr13:90379200-90380000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr13:90379200-90380000	Enhancers	NHEK	skin
10	chr13:90379200-90380400	Enhancers	Hela-S3	cervix
11	chr13:90379400-90379800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:90379400-90379800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:90379800-90380400	Active TSS	HMEC	breast
14	chr13:90380000-90380400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:90380400-90385200	Weak transcription	Hela-S3	cervix
16	chr13:90385200-90387200	Enhancers	Hela-S3	cervix
17	chr13:90387200-90402400	Weak transcription	Hela-S3	cervix
18	chr13:90389800-90390600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:90390000-90390600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:90390200-90390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:90392200-90394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:90393200-90394800	Enhancers	Fetal Heart	heart
23	chr13:90393400-90393800	Enhancers	Fetal Muscle Leg	muscle
24	chr13:90393400-90393800	Enhancers	Left Ventricle	heart
25	chr13:90394800-90398600	Weak transcription	Fetal Heart	heart
26	chr13:90398200-90401200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:90398400-90399200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:90398400-90399400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:90398600-90399200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr13:90398600-90399400	Enhancers	Fetal Heart	heart
31	chr13:90398800-90399200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr13:90398800-90399200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:90399200-90399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:90399200-90400400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:90399400-90400600	Weak transcription	Fetal Heart	heart
36	chr13:90399600-90399800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:90399800-90400800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:90400600-90400800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr13:90400600-90401400	Enhancers	Fetal Heart	heart
40	chr13:90400800-90401400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr13:90401200-90401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:90401200-90406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:90401400-90408000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:90401600-90402600	Enhancers	HUVEC	blood vessel
45	chr13:90402000-90402800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:90402200-90402600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr13:90402400-90402600	Enhancers	Hela-S3	cervix
48	chr13:90402400-90402800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr13:90403600-90404200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:90406200-90406400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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