Variant report

Variant	nsv900451
Chromosome Location	chr13:69290386-69387266
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69315131..69317872-chr13:69317923..69322288,4	K562	blood:
2	chr13:69302476..69304966-chr13:69305880..69307759,2	K562	blood:
3	chr13:69259880..69261273-chr13:69319408..69320273,7	MCF-7	breast:
4	chr13:69260117..69261169-chr13:69319440..69320437,6	MCF-7	breast:
5	chr13:69258057..69262640-chr13:69318281..69322115,7	MCF-7	breast:
6	chr13:69302476..69304966-chr13:69305880..69307759,2	K562	blood:
7	chr13:69290266..69293012-chr13:69294530..69297103,2	K562	blood:
8	chr13:69305922..69307461-chr13:69310294..69313098,2	MCF-7	breast:
9	chr13:69259973..69261382-chr13:69319364..69320393,8	MCF-7	breast:
10	chr13:69285714..69286598-chr13:69319387..69320170,3	MCF-7	breast:
11	chr13:69342465..69344656-chr13:69450218..69452422,2	K562	blood:
12	chr13:69305922..69307461-chr13:69310294..69313098,2	MCF-7	breast:
13	chr13:69385279..69388108-chr13:69393931..69396561,2	K562	blood:
14	chr13:69259897..69261382-chr13:69319281..69320393,15	MCF-7	breast:
15	chr13:69290266..69293012-chr13:69294530..69297103,2	K562	blood:
16	chr13:69259900..69260965-chr13:69319275..69320290,3	MCF-7	breast:
17	chr13:69287232..69288836-chr13:69289519..69291070,2	MCF-7	breast:
18	chr13:69285777..69286462-chr13:69319713..69320490,3	MCF-7	breast:
19	chr13:69315131..69317872-chr13:69317923..69322288,4	K562	blood:
20	chr13:69310540..69313201-chr13:69349262..69351035,2	K562	blood:
21	chr13:69310540..69313201-chr13:69349262..69351035,2	K562	blood:

No data

Extended variants
information (count: 1080 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs287486	chr13:69290386-69290387	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564006447	chr13:69290425-69290426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376307570	chr13:69290481-69290482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369144113	chr13:69290514-69290515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77049418	chr13:69290558-69290559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562879479	chr13:69290590-69290591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531816117	chr13:69290600-69290601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200900170	chr13:69290606-69290607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150277844	chr13:69290610-69290611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562287874	chr13:69290616-69290617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527850640	chr13:69290666-69290667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184401083	chr13:69290752-69290753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571108810	chr13:69290764-69290765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539489556	chr13:69290778-69290779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549742532	chr13:69290782-69290783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569687845	chr13:69290803-69290804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535515554	chr13:69290844-69290845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555141848	chr13:69290877-69290878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571925190	chr13:69290904-69290905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534470921	chr13:69290909-69290910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557634824	chr13:69290926-69290927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577505211	chr13:69290927-69290928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372258205	chr13:69290959-69290960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73206182	chr13:69290976-69290977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562878784	chr13:69290980-69290981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576327613	chr13:69290984-69290985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189352610	chr13:69291036-69291037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562121873	chr13:69291107-69291108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572284279	chr13:69291112-69291113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139318487	chr13:69291122-69291123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557087085	chr13:69291170-69291171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548009974	chr13:69291185-69291186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375871535	chr13:69291198-69291199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546007421	chr13:69291199-69291200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180791470	chr13:69291209-69291210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549543034	chr13:69291264-69291265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569655635	chr13:69291269-69291270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528849733	chr13:69291271-69291272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549072188	chr13:69291277-69291278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565390973	chr13:69291281-69291282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558346130	chr13:69291297-69291298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9529413	chr13:69291309-69291310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557512877	chr13:69291318-69291319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557953419	chr13:69291327-69291328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111295503	chr13:69291408-69291409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186553429	chr13:69291426-69291427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537373657	chr13:69291543-69291544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556939232	chr13:69291555-69291556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115304173	chr13:69291600-69291601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191009012	chr13:69291655-69291656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	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	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69285600-69290400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:69286200-69290400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:69286800-69297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:69288200-69290400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:69288200-69290800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:69288600-69290800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:69288800-69290600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:69289400-69290800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:69289400-69290800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:69289400-69301400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:69289600-69290400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:69289800-69290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:69290000-69296800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:69290600-69290800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:69290800-69296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:69290800-69301200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:69292000-69292200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr13:69296600-69297200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:69296800-69297000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:69296800-69297200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:69296800-69297200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:69296800-69297200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr13:69296800-69297400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:69296800-69297400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:69297000-69297200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:69297000-69297200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:69297400-69301400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr13:69301200-69301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:69301200-69301800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:69301400-69302200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:69301400-69302200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:69301800-69302200	Enhancers	Fetal Brain Female	brain
33	chr13:69301800-69302600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:69302200-69302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:69302600-69304000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:69308200-69309000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:69309000-69309200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr13:69309000-69309200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr13:69309000-69309400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:69309200-69310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:69309200-69310200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:69309400-69310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:69310200-69311200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:69310200-69311400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:69310200-69311400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr13:69310400-69311200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:69310400-69311800	Enhancers	HUVEC	blood vessel
48	chr13:69310800-69311400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr13:69311400-69320600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:69317200-69317400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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