Variant report

Variant	nsv562219
Chromosome Location	chr13:70491038-70551029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:70508992..70509506-chr20:33082627..33083129,2	MCF-7	breast:
2	chr13:70521896..70524416-chr13:70526463..70528042,2	MCF-7	breast:
3	chr13:70521896..70524416-chr13:70526463..70528042,2	MCF-7	breast:
4	chr13:70508852..70509449-chr13:70884586..70885490,2	MCF-7	breast:

Extended variants
information (count: 1417 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4884865	chr13:70491038-70491039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532067655	chr13:70491041-70491042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548570938	chr13:70491070-70491071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183231224	chr13:70491074-70491075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35944084	chr13:70491092-70491093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547134122	chr13:70491096-70491097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149833945	chr13:70491097-70491098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547620620	chr13:70491138-70491139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187554575	chr13:70491190-70491191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558422214	chr13:70491191-70491192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117242842	chr13:70491253-70491254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537341532	chr13:70491282-70491283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539289174	chr13:70491291-70491292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79798521	chr13:70491331-70491332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192844102	chr13:70491393-70491394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183375269	chr13:70491415-70491416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145807810	chr13:70491429-70491430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571755844	chr13:70491455-70491456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367941599	chr13:70491503-70491504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187913364	chr13:70491524-70491525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192795000	chr13:70491558-70491559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183611593	chr13:70491560-70491561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563094647	chr13:70491567-70491568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575889683	chr13:70491570-70491571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11843948	chr13:70491587-70491588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs149019425	chr13:70491589-70491590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375152771	chr13:70491653-70491654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527723840	chr13:70491661-70491662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573109647	chr13:70491682-70491683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115134156	chr13:70491683-70491684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570884330	chr13:70491707-70491708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539943904	chr13:70491774-70491775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549530401	chr13:70491805-70491806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569518564	chr13:70491811-70491812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114107518	chr13:70491830-70491831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555804211	chr13:70491871-70491872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555284042	chr13:70491876-70491877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187990223	chr13:70491900-70491901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76863813	chr13:70491913-70491914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79819452	chr13:70491915-70491916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17085645	chr13:70491918-70491919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145852786	chr13:70491919-70491920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574125570	chr13:70491968-70491969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142481988	chr13:70492012-70492013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577632535	chr13:70492040-70492041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368215721	chr13:70492085-70492086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116665109	chr13:70492096-70492097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556744750	chr13:70492131-70492132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192565590	chr13:70492135-70492136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184600093	chr13:70492181-70492182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70486600-70495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:70487600-70499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:70494800-70495800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:70495000-70495400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:70495000-70495800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:70495200-70495600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:70497800-70499200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:70498000-70498400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr13:70498000-70498400	Enhancers	Pancreas	Pancrea
10	chr13:70498400-70499000	Weak transcription	Pancreas	Pancrea
11	chr13:70499000-70499200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:70499000-70499200	ZNF genes & repeats	Pancreas	Pancrea
13	chr13:70510600-70512800	Active TSS	Hela-S3	cervix
14	chr13:70510800-70511200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:70512200-70512600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr13:70512800-70513600	Weak transcription	Hela-S3	cervix
17	chr13:70513600-70514400	Active TSS	Hela-S3	cervix
18	chr13:70514400-70515200	Weak transcription	Hela-S3	cervix
19	chr13:70515200-70515400	Enhancers	Hela-S3	cervix
20	chr13:70515400-70516000	Weak transcription	Hela-S3	cervix
21	chr13:70516000-70516200	Enhancers	Hela-S3	cervix
22	chr13:70520800-70522800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:70521200-70521600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr13:70521400-70521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:70521600-70521800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr13:70521800-70522000	Enhancers	GM12878-XiMat	blood
27	chr13:70521800-70522200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr13:70521800-70522400	Enhancers	Fetal Kidney	kidney
29	chr13:70521800-70522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:70522000-70522200	Flanking Active TSS	GM12878-XiMat	blood
31	chr13:70522200-70522400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr13:70522200-70522400	Enhancers	GM12878-XiMat	blood
33	chr13:70522400-70522800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr13:70522400-70522800	Flanking Active TSS	GM12878-XiMat	blood
35	chr13:70522600-70523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:70522800-70523000	Enhancers	GM12878-XiMat	blood
37	chr13:70525200-70525400	Enhancers	Hela-S3	cervix
38	chr13:70525400-70533200	Weak transcription	Hela-S3	cervix
39	chr13:70528600-70529800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:70528600-70530000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:70530000-70533200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:70533000-70534000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:70533200-70533600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:70533200-70533600	Enhancers	Hela-S3	cervix
45	chr13:70533200-70533800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:70533200-70534000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr13:70533200-70534000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:70533200-70534000	Enhancers	Fetal Intestine Large	intestine
49	chr13:70533200-70534200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:70533200-70534200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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