Variant report

Variant	nsv471128
Chromosome Location	chr13:37838294-37880725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37846547..37848688-chr13:37852858..37855009,2	MCF-7	breast:
2	chr12:126015648..126016148-chr13:37878876..37879768,2	K562	blood:
3	chr13:37846547..37848688-chr13:37852858..37855009,2	MCF-7	breast:

Extended variants
information (count: 1612 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1612 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4943464	chr13:37838294-37838295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553898012	chr13:37838299-37838300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577388963	chr13:37838310-37838311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539708814	chr13:37838312-37838313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556803291	chr13:37838324-37838325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576694127	chr13:37838400-37838401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532673184	chr13:37838468-37838469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146923626	chr13:37838480-37838481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557711734	chr13:37838488-37838489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74045473	chr13:37838498-37838499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540333932	chr13:37838512-37838513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572783830	chr13:37838529-37838530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541315231	chr13:37838574-37838575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147592532	chr13:37838577-37838578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77651790	chr13:37838609-37838610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534292014	chr13:37838730-37838731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142098769	chr13:37838746-37838747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559666484	chr13:37838755-37838756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574792972	chr13:37838809-37838810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3945809	chr13:37838846-37838847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143066807	chr13:37838864-37838865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541975907	chr13:37838865-37838866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533998183	chr13:37838878-37838879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7999410	chr13:37838886-37838887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148152106	chr13:37838912-37838913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115494527	chr13:37838919-37838920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116844347	chr13:37838922-37838923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556528998	chr13:37838993-37838994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139462563	chr13:37838996-37838997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141939457	chr13:37839011-37839012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183328958	chr13:37839013-37839014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116793328	chr13:37839049-37839050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80240391	chr13:37839060-37839061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552420545	chr13:37839108-37839109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150272753	chr13:37839114-37839115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77916161	chr13:37839117-37839118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188542549	chr13:37839132-37839133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576910470	chr13:37839217-37839218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554168848	chr13:37839235-37839236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537264039	chr13:37839238-37839239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545969109	chr13:37839242-37839243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7982899	chr13:37839251-37839252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs191240678	chr13:37839256-37839257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139002376	chr13:37839279-37839280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182398153	chr13:37839294-37839295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527662429	chr13:37839298-37839299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547504588	chr13:37839304-37839305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371688898	chr13:37839311-37839312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116041885	chr13:37839317-37839318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528539352	chr13:37839325-37839326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	17440070	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37837600-37845400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:37843200-37843600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:37843200-37843600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:37843200-37843600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:37843200-37843600	Enhancers	NH-A	brain
6	chr13:37843200-37843600	Enhancers	NHDF-Ad	bronchial
7	chr13:37843200-37843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:37843200-37843800	Enhancers	HMEC	breast
9	chr13:37845400-37848200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:37847400-37847800	Enhancers	Fetal Muscle Leg	muscle
11	chr13:37847800-37848200	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:37848200-37848400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:37848200-37848400	Enhancers	Fetal Muscle Leg	muscle
14	chr13:37848400-37848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:37848400-37849800	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:37848800-37849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:37849000-37849200	Enhancers	NHDF-Ad	bronchial
18	chr13:37849200-37852000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:37849800-37850000	Enhancers	Fetal Muscle Leg	muscle
20	chr13:37849800-37850000	Enhancers	NHDF-Ad	bronchial
21	chr13:37850800-37851200	Enhancers	Colon Smooth Muscle	Colon
22	chr13:37851000-37851800	Enhancers	HMEC	breast
23	chr13:37851200-37851600	Enhancers	Fetal Heart	heart
24	chr13:37851200-37851800	Enhancers	Osteobl	bone
25	chr13:37851200-37852000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:37851200-37852200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:37851400-37852000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:37851800-37852200	Enhancers	NHEK	skin
29	chr13:37852200-37860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:37859000-37859800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr13:37859000-37863400	Enhancers	HUVEC	blood vessel
32	chr13:37860200-37861400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:37861400-37862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:37861400-37877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:37862200-37862400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:37862200-37862600	Enhancers	Fetal Muscle Leg	muscle
37	chr13:37862400-37862600	Enhancers	Adipose Nuclei	Adipose
38	chr13:37862400-37863400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:37863200-37864200	Enhancers	Brain Substantia Nigra	brain
40	chr13:37863400-37863800	Enhancers	Fetal Heart	heart
41	chr13:37863400-37864000	Enhancers	Brain Hippocampus Middle	brain
42	chr13:37863400-37865200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:37867200-37867600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:37867600-37868800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:37867800-37868400	Enhancers	Fetal Muscle Leg	muscle
46	chr13:37868400-37869400	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:37868600-37870000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:37868800-37869800	Enhancers	NHEK	skin
49	chr13:37868800-37871400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr13:37869000-37870000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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