Variant report

Variant	nsv562755
Chromosome Location	chr13:94993032-95051560
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:1)
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	chr13:95005067..95007949-chr13:95008749..95010575,2	MCF-7	breast:
2	chr13:94996444..94998993-chr13:95005102..95008058,2	K562	blood:
3	chr13:94996444..94998993-chr13:95005102..95008058,2	K562	blood:
4	chr13:95005067..95007949-chr13:95008749..95010575,2	MCF-7	breast:
5	chr13:94922212..94923450-chr13:95014202..95015348,4	MCF-7	breast:
6	chr13:95014734..95017422-chr13:95021099..95023392,2	K562	blood:
7	chr13:95014734..95017422-chr13:95021099..95023392,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-11	chr13:95000748-95002750	NONHSAT034722

No data

Extended variants
information (count: 2062 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2062 , 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	rs7986931	chr13:94993032-94993033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7981682	chr13:94993082-94993083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576015108	chr13:94993097-94993098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541444255	chr13:94993133-94993134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367864213	chr13:94993139-94993140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185691847	chr13:94993152-94993153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541698815	chr13:94993197-94993198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564680837	chr13:94993203-94993204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533558547	chr13:94993211-94993212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372099398	chr13:94993236-94993237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563611175	chr13:94993241-94993242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529324543	chr13:94993257-94993258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115209569	chr13:94993259-94993260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565688482	chr13:94993307-94993308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527588304	chr13:94993334-94993335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547278771	chr13:94993339-94993340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115897608	chr13:94993346-94993347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539223893	chr13:94993401-94993402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190215635	chr13:94993440-94993441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532916774	chr13:94993443-94993444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372500006	chr13:94993449-94993450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556257628	chr13:94993454-94993455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569667112	chr13:94993455-94993456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546235620	chr13:94993555-94993556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535505086	chr13:94993614-94993615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9516398	chr13:94993616-94993617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572030739	chr13:94993650-94993651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541786905	chr13:94993656-94993657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34597066	chr13:94993677-94993678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192813322	chr13:94993709-94993710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141038287	chr13:94993727-94993728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150257566	chr13:94993741-94993742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531835634	chr13:94993762-94993763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548441327	chr13:94993787-94993788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532055015	chr13:94993788-94993789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9524447	chr13:94993816-94993817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183710874	chr13:94993834-94993835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538115438	chr13:94993840-94993841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78627033	chr13:94993841-94993842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35531120	chr13:94993856-94993857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9589959	chr13:94993969-94993970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376723042	chr13:94993993-94993994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149473341	chr13:94994069-94994070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542507814	chr13:94994101-94994102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368648739	chr13:94994166-94994167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9524448	chr13:94994199-94994200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188824204	chr13:94994231-94994232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147170758	chr13:94994234-94994235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9556363	chr13:94994276-94994277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs28378852	chr13:94994277-94994278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94979800-94996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94981800-94996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:94983000-94996200	Weak transcription	HepG2	liver
5	chr13:94983200-94994800	Weak transcription	HSMMtube	muscle
6	chr13:94983200-94995200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:94984200-94995200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:94988200-94998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:94988400-94994800	Weak transcription	Liver	Liver
10	chr13:94988600-94994200	Weak transcription	Fetal Stomach	stomach
11	chr13:94988600-94994800	Weak transcription	HSMM	muscle
12	chr13:94989600-94994600	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:94990000-95003600	Weak transcription	Fetal Intestine Small	intestine
14	chr13:94990400-94996800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:94991400-94994600	Weak transcription	NH-A	brain
16	chr13:94991400-94996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:94991600-94995000	Weak transcription	Placenta	Placenta
18	chr13:94991800-94994600	Weak transcription	Ovary	ovary
19	chr13:94994200-94998400	Enhancers	Fetal Stomach	stomach
20	chr13:94994600-94995000	Enhancers	NH-A	brain
21	chr13:94994600-94995200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:94994600-94995400	Enhancers	Fetal Muscle Trunk	muscle
23	chr13:94994600-94995400	Enhancers	Stomach Smooth Muscle	stomach
24	chr13:94994600-94997200	Enhancers	Fetal Muscle Leg	muscle
25	chr13:94994600-94997200	Enhancers	Ovary	ovary
26	chr13:94994600-94998200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr13:94994800-94995200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:94994800-94995600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:94994800-94995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:94994800-94997800	Enhancers	Liver	Liver
31	chr13:94994800-94998200	Enhancers	HSMM	muscle
32	chr13:94994800-94998200	Enhancers	HSMMtube	muscle
33	chr13:94995000-94995200	Enhancers	Placenta	Placenta
34	chr13:94995000-94995200	Enhancers	Fetal Thymus	thymus
35	chr13:94995000-94995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:94995000-94995400	Enhancers	Aorta	Aorta
37	chr13:94995000-94995600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:94995000-94996000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:94995000-94996000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:94995000-94996000	Flanking Active TSS	NH-A	brain
41	chr13:94995000-94996600	Enhancers	Colon Smooth Muscle	Colon
42	chr13:94995000-94996600	Enhancers	Fetal Heart	heart
43	chr13:94995000-94997000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:94995000-94998400	Enhancers	NHDF-Ad	bronchial
45	chr13:94995200-94995400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:94995200-94995400	Enhancers	Brain Hippocampus Middle	brain
47	chr13:94995200-94995600	Enhancers	Brain Germinal Matrix	brain
48	chr13:94995200-94995600	Weak transcription	Placenta	Placenta
49	chr13:94995200-94995800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:94995200-94996000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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