Variant report

Variant	nsv976245
Chromosome Location	chr13:69383145-69387869
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	chr13:69385279..69388108-chr13:69393931..69396561,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35429395	chr13:69384610-69384611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559222169	chr13:69384649-69384650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181578675	chr13:69384652-69384653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543721381	chr13:69384686-69384687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140438303	chr13:69384688-69384689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142915480	chr13:69384737-69384738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564757655	chr13:69384773-69384774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9572020	chr13:69384783-69384784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541663	chr13:69384803-69384804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150371278	chr13:69384821-69384822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138734567	chr13:69384878-69384879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113375870	chr13:69384888-69384889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527367362	chr13:69384893-69384894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186534114	chr13:69384926-69384927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566040342	chr13:69384959-69384960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535127394	chr13:69384971-69384972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558256227	chr13:69384994-69384995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578227375	chr13:69384995-69384996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537636694	chr13:69385003-69385004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191249700	chr13:69385053-69385054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59171903	chr13:69385065-69385066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182622549	chr13:69385088-69385089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73506115	chr13:69385119-69385120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572476601	chr13:69385141-69385142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544716863	chr13:69385176-69385177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553335305	chr13:69385189-69385190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74090160	chr13:69385191-69385192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570324746	chr13:69385204-69385205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530648645	chr13:69385220-69385221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531651357	chr13:69385223-69385224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545116002	chr13:69385226-69385227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376927086	chr13:69385250-69385251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549767103	chr13:69385251-69385252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561070845	chr13:69385253-69385254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144739112	chr13:69385259-69385260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546532405	chr13:69385262-69385263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567917813	chr13:69385320-69385321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185961406	chr13:69385396-69385397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532457307	chr13:69387014-69387015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546072317	chr13:69387015-69387016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114099179	chr13:69387031-69387032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535351799	chr13:69387036-69387037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551085556	chr13:69387086-69387087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115916052	chr13:69387125-69387126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530361918	chr13:69387129-69387130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369415328	chr13:69387160-69387161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546784201	chr13:69387173-69387174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182719955	chr13:69387175-69387176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572129472	chr13:69387178-69387179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143338085	chr13:69387179-69387180	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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69384600-69385200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:69384800-69385400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:69387000-69387800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:69387000-69388200	Enhancers	Fetal Heart	heart
5	chr13:69387200-69387600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:69387200-69387800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:69387400-69387800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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