Variant report

Variant	nsv976270
Chromosome Location	chr13:86306573-86332392
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	chr13:86315676..86316552-chr3:64273618..64274256,2	MCF-7	breast:

Extended variants
information (count: 1144 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543732610	chr13:86306601-86306602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143685698	chr13:86306624-86306625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573859834	chr13:86306650-86306651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72631018	chr13:86306684-86306685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559518241	chr13:86306700-86306701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533242455	chr13:86306717-86306718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9547348	chr13:86306764-86306765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151039289	chr13:86306779-86306780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116157665	chr13:86306788-86306789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557117179	chr13:86306839-86306840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140931255	chr13:86306860-86306861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576670797	chr13:86306866-86306867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150179362	chr13:86306874-86306875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534871885	chr13:86306879-86306880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181502424	chr13:86306890-86306891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571832166	chr13:86306891-86306892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74641931	chr13:86306919-86306920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557874724	chr13:86306962-86306963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186044702	chr13:86306985-86306986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs68101786	chr13:86307022-86307023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398117664	chr13:86307036-86307037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199932808	chr13:86307039-86307040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537073619	chr13:86307044-86307045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555687241	chr13:86307048-86307049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543763831	chr13:86307094-86307095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9547349	chr13:86307115-86307116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74663265	chr13:86307117-86307118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1538067	chr13:86307159-86307160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577775324	chr13:86307170-86307171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190016129	chr13:86307176-86307177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56821977	chr13:86307208-86307209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs141785797	chr13:86307411-86307412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200412768	chr13:86307498-86307499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542645685	chr13:86307507-86307508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560961961	chr13:86307596-86307597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528731786	chr13:86307630-86307631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61968677	chr13:86307634-86307635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9575937	chr13:86307667-86307668	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532788930	chr13:86307676-86307677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137996076	chr13:86307764-86307765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77594684	chr13:86307797-86307798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533290778	chr13:86307844-86307845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371183606	chr13:86307864-86307865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181532600	chr13:86307920-86307921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149485896	chr13:86307950-86307951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143945387	chr13:86308088-86308089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551356549	chr13:86308092-86308093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545974312	chr13:86308093-86308094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534570430	chr13:86308130-86308131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553270010	chr13:86308131-86308132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86274000-86313200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:86303400-86312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:86303800-86312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:86307600-86307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:86307800-86313200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:86312600-86313400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:86312600-86313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:86313000-86313400	Enhancers	HMEC	breast
9	chr13:86313000-86318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:86313200-86313600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:86313200-86313600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr13:86313200-86313600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:86313200-86313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:86313400-86313600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:86313400-86313800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:86313400-86315400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:86313600-86314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:86313600-86314400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:86313600-86315000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr13:86313800-86315000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:86314400-86314600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:86314400-86317200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:86314600-86315000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:86314800-86315600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:86315000-86315800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:86315000-86316400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:86315000-86316400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:86315200-86315800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:86315400-86316800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr13:86315800-86316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:86315800-86319800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:86316400-86316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:86316400-86317200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:86316800-86317800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:86316800-86318000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:86317000-86317200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:86317200-86317800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:86317200-86318000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr13:86317800-86318000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:86317800-86318000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr13:86317800-86320000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr13:86318000-86319800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:86319800-86320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:86319800-86320600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:86319800-86320800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:86320000-86320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr13:86320000-86320600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr13:86320000-86320800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:86320600-86334800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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