Variant report

Variant	nsv528243
Chromosome Location	chr13:48162558-48234112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:47405643..47406579-chr13:48172211..48172875,2	MCF-7	breast:
2	chr13:47479207..47479962-chr13:48172418..48173157,2	MCF-7	breast:
3	chr13:47405867..47406372-chr13:48172194..48172878,2	K562	blood:
4	chr13:47405508..47406415-chr13:48172351..48173231,3	MCF-7	breast:

Extended variants
information (count: 796 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543033110	chr13:48166800-48166801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192068736	chr13:48166813-48166814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532000965	chr13:48166841-48166842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547042493	chr13:48166850-48166851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559031815	chr13:48166861-48166862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181369899	chr13:48166879-48166880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75965428	chr13:48166920-48166921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112901456	chr13:48166952-48166953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559598700	chr13:48172202-48172203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375540667	chr13:48172207-48172208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1326464	chr13:48172216-48172217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537483365	chr13:48172297-48172298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560897913	chr13:48172329-48172330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531231342	chr13:48172331-48172332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549434153	chr13:48172366-48172367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1326463	chr13:48172392-48172393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532156180	chr13:48172420-48172421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547237136	chr13:48172510-48172511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565828512	chr13:48172520-48172521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77472854	chr13:48175622-48175623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546940982	chr13:48175646-48175647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568767057	chr13:48175674-48175675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188323341	chr13:48175708-48175709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117753486	chr13:48175709-48175710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550752090	chr13:48175717-48175718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140970305	chr13:48175724-48175725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35927895	chr13:48175729-48175730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539493383	chr13:48175745-48175746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145119200	chr13:48175751-48175752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191298925	chr13:48175761-48175762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534028491	chr13:48175766-48175767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183206885	chr13:48175789-48175790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138918138	chr13:48175868-48175869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9595748	chr13:48175887-48175888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556895029	chr13:48175907-48175908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575235200	chr13:48175935-48175936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186802046	chr13:48176009-48176010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564617525	chr13:48176010-48176011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4942651	chr13:48176018-48176019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191272625	chr13:48176067-48176068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562237818	chr13:48176076-48176077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4942652	chr13:48176091-48176092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs118028702	chr13:48176119-48176120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562441220	chr13:48176186-48176187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140722401	chr13:48176230-48176231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184728347	chr13:48176251-48176252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566590610	chr13:48176261-48176262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533745028	chr13:48176290-48176291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78627043	chr13:48176325-48176326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4942653	chr13:48176357-48176358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:126)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48166800-48167000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:48172200-48172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:48175600-48176600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:48176600-48177000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:48177000-48177600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:48185200-48185800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:48185400-48186000	Enhancers	NH-A	brain
8	chr13:48192200-48193400	ZNF genes & repeats	Aorta	Aorta
9	chr13:48192400-48195800	Weak transcription	Stomach Mucosa	stomach
10	chr13:48192800-48193600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:48193600-48194800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:48194800-48196800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:48195000-48197400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:48195400-48197400	Enhancers	Hela-S3	cervix
15	chr13:48195600-48196200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:48195600-48196600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:48195600-48196800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:48195600-48196800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:48195800-48196800	Enhancers	HMEC	breast
20	chr13:48196000-48196200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:48196000-48196200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr13:48196000-48196200	Enhancers	Stomach Mucosa	stomach
23	chr13:48202200-48202800	Enhancers	NH-A	brain
24	chr13:48202200-48203600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:48202600-48203200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:48202600-48203400	Enhancers	Osteobl	bone
27	chr13:48202800-48203400	Enhancers	HMEC	breast
28	chr13:48205600-48206200	Enhancers	HMEC	breast
29	chr13:48205800-48206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:48205800-48206800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:48205800-48207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:48205800-48207000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:48205800-48207000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:48206000-48206800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:48206000-48207000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:48206000-48207000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:48206200-48206800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:48206200-48206800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr13:48206200-48206800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr13:48206200-48207000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr13:48206200-48207200	Enhancers	Placenta	Placenta
42	chr13:48206400-48206800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:48206400-48207000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:48206600-48207000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:48206600-48207000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr13:48206800-48207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:48213200-48214600	Enhancers	Hela-S3	cervix
48	chr13:48213400-48214400	Enhancers	Liver	Liver
49	chr13:48213800-48214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr13:48213800-48214600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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