Variant report

Variant	nsv1112
Chromosome Location	chr13:89364975-89417543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:89369839..89371609-chr13:89377639..89379655,2	K562	blood:
2	chr13:89369839..89371609-chr13:89377639..89379655,2	K562	blood:

Extended variants
information (count: 422 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9559878	chr13:89364979-89364980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561550420	chr13:89364995-89364996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529014816	chr13:89365054-89365055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540942733	chr13:89365219-89365220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9515291	chr13:89365260-89365261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs151038534	chr13:89365307-89365308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552273203	chr13:89365311-89365312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570964715	chr13:89365345-89365346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545869405	chr13:89365370-89365371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114851442	chr13:89365398-89365399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140964036	chr13:89365417-89365418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562474192	chr13:89365442-89365443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568677180	chr13:89365531-89365532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536020453	chr13:89365559-89365560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548129095	chr13:89365561-89365562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146591553	chr13:89365578-89365579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147920143	chr13:89365590-89365591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373189691	chr13:89365805-89365806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536758249	chr13:89365807-89365808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372527820	chr13:89365808-89365809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375592663	chr13:89365895-89365896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573522745	chr13:89365926-89365927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76933075	chr13:89365976-89365977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76700357	chr13:89366016-89366017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559257074	chr13:89366069-89366070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527332491	chr13:89366072-89366073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546224224	chr13:89366073-89366074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564324867	chr13:89366115-89366116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531689206	chr13:89366150-89366151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550019981	chr13:89366151-89366152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185401388	chr13:89366164-89366165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374737470	chr13:89366172-89366173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141786899	chr13:89366192-89366193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534097473	chr13:89370009-89370010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146270426	chr13:89370026-89370027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181064334	chr13:89370042-89370043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118025918	chr13:89370059-89370060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370948351	chr13:89370101-89370102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374304153	chr13:89370109-89370110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368731156	chr13:89370120-89370121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557060236	chr13:89370135-89370136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7326906	chr13:89370165-89370166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74622447	chr13:89370220-89370221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554748197	chr13:89370232-89370233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573064230	chr13:89370299-89370300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528661540	chr13:89370312-89370313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540939220	chr13:89370362-89370363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114842931	chr13:89370365-89370366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529367916	chr13:89370369-89370370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570632126	chr13:89370622-89370623	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89362600-89365600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:89365800-89366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:89365800-89366200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:89365800-89366200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:89365800-89366200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:89365800-89366200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:89370000-89370400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:89370600-89371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:89370800-89371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:89376400-89376800	Enhancers	Adipose Nuclei	Adipose
11	chr13:89376800-89378200	Weak transcription	Adipose Nuclei	Adipose
12	chr13:89377200-89378600	ZNF genes & repeats	Pancreas	Pancrea
13	chr13:89378200-89378800	Enhancers	Adipose Nuclei	Adipose
14	chr13:89378400-89378600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:89378400-89378600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:89378400-89379400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:89381600-89382600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr13:89400600-89401000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:89401000-89402400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:89401400-89402000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:89401400-89402200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:89412400-89413800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:89413000-89413400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:89413200-89413600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:89415800-89416600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr13:89415800-89416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:89415800-89417200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:89416000-89416800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:89416000-89417200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr13:89416200-89417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:89416400-89416800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr13:89416600-89417000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:89416600-89417200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr13:89416800-89417200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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