Variant report

Variant	nsv541819
Chromosome Location	chr13:67233848-67307431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
2	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
3	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
4	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
5	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
6	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
7	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:

Extended variants
information (count: 2407 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2407 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549959204	chr13:67233879-67233880	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569845738	chr13:67233908-67233909	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529237082	chr13:67233927-67233928	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9540861	chr13:67233953-67233954	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565642686	chr13:67233987-67233988	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534622776	chr13:67234026-67234027	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111990780	chr13:67234071-67234072	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373829756	chr13:67234115-67234116	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557838530	chr13:67234131-67234132	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571373053	chr13:67234140-67234141	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537237984	chr13:67234145-67234146	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs151160032	chr13:67234175-67234176	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140180548	chr13:67234201-67234202	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543340538	chr13:67234218-67234219	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4884683	chr13:67234230-67234231	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193256671	chr13:67234231-67234232	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548730467	chr13:67234239-67234240	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150330902	chr13:67234275-67234276	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564999936	chr13:67234316-67234317	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575736163	chr13:67234317-67234318	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183260026	chr13:67234391-67234392	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550495081	chr13:67234398-67234399	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567267055	chr13:67234406-67234407	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201916393	chr13:67234435-67234436	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs9540862	chr13:67234469-67234470	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs71707667	chr13:67234495-67234496	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373418962	chr13:67234497-67234498	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs10547631	chr13:67234498-67234499	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188823532	chr13:67234534-67234535	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559686623	chr13:67234540-67234541	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192702800	chr13:67234613-67234614	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184992680	chr13:67234616-67234617	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571601698	chr13:67234635-67234636	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9317599	chr13:67234637-67234638	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113949424	chr13:67234682-67234683	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550879428	chr13:67234693-67234694	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191144580	chr13:67234705-67234706	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572648801	chr13:67234824-67234825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536468723	chr13:67234851-67234852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183694249	chr13:67234852-67234853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6420331	chr13:67234863-67234864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142207865	chr13:67234873-67234874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558576713	chr13:67234946-67234947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61960074	chr13:67234951-67234952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575631070	chr13:67235019-67235020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544656416	chr13:67235083-67235084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561245024	chr13:67235084-67235085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573731264	chr13:67235088-67235089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542851559	chr13:67235183-67235184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189133419	chr13:67235209-67235210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:67231600-67240200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:67231800-67234000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:67231800-67240000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:67232000-67234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:67232000-67234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:67232000-67234000	Weak transcription	HMEC	breast
8	chr13:67232000-67234200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:67232000-67237600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:67232000-67237800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:67232000-67239600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:67232000-67239600	Weak transcription	Brain Substantia Nigra	brain
13	chr13:67232000-67240000	Weak transcription	Brain Anterior Caudate	brain
14	chr13:67232200-67234000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr13:67232400-67234600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:67232600-67234400	Enhancers	HSMM	muscle
17	chr13:67233200-67234800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:67233400-67234000	Enhancers	NH-A	brain
19	chr13:67233400-67234400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr13:67233400-67234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:67233400-67235600	Enhancers	HUVEC	blood vessel
22	chr13:67233600-67234200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr13:67233600-67234400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:67233600-67234400	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr13:67233600-67234400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:67233600-67234400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:67233600-67234400	Enhancers	Psoas Muscle	Psoas
28	chr13:67233600-67234600	Active TSS	A549	lung
29	chr13:67233600-67234600	Flanking Active TSS	Hela-S3	cervix
30	chr13:67233600-67234600	Enhancers	HSMMtube	muscle
31	chr13:67233600-67235400	Enhancers	NHDF-Ad	bronchial
32	chr13:67233800-67234000	Active TSS	Brain Angular Gyrus	brain
33	chr13:67233800-67234000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr13:67233800-67234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:67233800-67234400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:67233800-67234400	Enhancers	Fetal Muscle Leg	muscle
37	chr13:67233800-67234400	Flanking Active TSS	Osteobl	bone
38	chr13:67233800-67234600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:67234000-67234200	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr13:67234000-67234200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr13:67234000-67234200	Enhancers	Stomach Smooth Muscle	stomach
42	chr13:67234000-67234400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:67234000-67234400	Flanking Active TSS	NH-A	brain
44	chr13:67234000-67234600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:67234000-67234600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:67234000-67234600	Enhancers	HMEC	breast
47	chr13:67234200-67234400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:67234200-67234400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr13:67234200-67237800	Weak transcription	Brain Angular Gyrus	brain
50	chr13:67234400-67234600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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