Variant report

Variant	nsv892065
Chromosome Location	chr9:2342366-2424322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
2	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
3	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
4	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
5	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
6	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
7	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
8	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
9	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
10	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
11	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2411589-2414510	l_3727_chr9:2411588-2611526_ovary
2	lnc-KIAA0020-1	chr9:2415397-2415540	l_3727_chr9:2411588-2611526_ovary
3	lnc-KIAA0020-1	chr9:2423860-2427978	NONHSAT129995
4	lnc-VLDLR-2	chr9:2408820-2408888	XLOC_007266
5	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404.4
6	lnc-KIAA0020-1	chr9:2423837-2423844	NONHSAT129995
7	lnc-VLDLR-2	chr9:2390027-2390054	XLOC_007266
8	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404

No data

Extended variants
information (count: 3817 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3817 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331819	chr9:2342366-2342367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574299123	chr9:2342396-2342397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76166031	chr9:2342427-2342428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564957330	chr9:2342480-2342481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556705814	chr9:2342490-2342491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192481774	chr9:2342498-2342499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530710189	chr9:2342507-2342508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545432927	chr9:2342572-2342573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565112919	chr9:2342584-2342585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368642247	chr9:2342601-2342602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5895971	chr9:2342602-2342603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35971328	chr9:2342608-2342609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150465926	chr9:2342630-2342631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1412179	chr9:2342642-2342643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536692671	chr9:2342657-2342658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55768094	chr9:2342681-2342682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573092294	chr9:2342684-2342685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542371350	chr9:2342691-2342692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1412180	chr9:2342706-2342707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531301449	chr9:2342712-2342713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551382546	chr9:2342783-2342784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185848967	chr9:2342808-2342809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527246037	chr9:2342905-2342906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138201245	chr9:2342931-2342932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10965779	chr9:2342966-2342967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536888470	chr9:2342990-2342991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201512777	chr9:2343008-2343009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556793656	chr9:2343058-2343059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55650035	chr9:2343100-2343101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10811891	chr9:2343102-2343103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373219434	chr9:2343103-2343104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12378479	chr9:2343109-2343110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372148606	chr9:2343142-2343143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559172646	chr9:2343177-2343178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189115261	chr9:2343194-2343195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10965782	chr9:2343203-2343204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575776543	chr9:2343230-2343231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192773428	chr9:2343256-2343257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184429476	chr9:2343257-2343258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553657467	chr9:2343258-2343259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2039355	chr9:2343261-2343262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562647812	chr9:2343270-2343271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542457315	chr9:2343319-2343320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10965783	chr9:2343329-2343330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188535684	chr9:2343330-2343331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531834541	chr9:2343398-2343399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112687697	chr9:2343399-2343400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149601584	chr9:2343423-2343424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79419995	chr9:2343437-2343438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527291041	chr9:2343440-2343441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2335600-2346600	Weak transcription	Left Ventricle	heart
2	chr9:2337400-2346600	Weak transcription	Right Atrium	heart
3	chr9:2341400-2356200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:2342600-2342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:2343600-2346400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:2344600-2345600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:2345200-2345400	Enhancers	Psoas Muscle	Psoas
8	chr9:2345200-2345400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr9:2345400-2346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:2345400-2346400	Weak transcription	Psoas Muscle	Psoas
11	chr9:2346000-2346800	Enhancers	Fetal Heart	heart
12	chr9:2346200-2347000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:2346200-2347200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr9:2346400-2347200	Enhancers	Psoas Muscle	Psoas
15	chr9:2346600-2346800	Enhancers	Right Atrium	heart
16	chr9:2346600-2347000	Enhancers	Left Ventricle	heart
17	chr9:2346800-2347000	Weak transcription	Right Atrium	heart
18	chr9:2353600-2356000	Enhancers	Ovary	ovary
19	chr9:2354000-2354800	Enhancers	Adipose Nuclei	Adipose
20	chr9:2354200-2356000	Enhancers	Fetal Lung	lung
21	chr9:2354400-2356000	Enhancers	Fetal Muscle Trunk	muscle
22	chr9:2354800-2355200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:2354800-2355800	Enhancers	Fetal Brain Male	brain
24	chr9:2354800-2356000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:2354800-2356000	Enhancers	Fetal Stomach	stomach
26	chr9:2354800-2356200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:2354800-2356600	Enhancers	NHEK	skin
28	chr9:2355000-2355400	Enhancers	Fetal Muscle Leg	muscle
29	chr9:2355000-2355600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:2355200-2355600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:2355400-2355600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:2355400-2355800	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:2355400-2356000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:2355600-2355800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:2355600-2356000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:2355600-2359400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:2355800-2356000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr9:2355800-2356000	Enhancers	Fetal Muscle Leg	muscle
39	chr9:2355800-2356600	Enhancers	HMEC	breast
40	chr9:2355800-2359600	Weak transcription	Fetal Brain Male	brain
41	chr9:2356000-2356600	Weak transcription	Fetal Stomach	stomach
42	chr9:2356000-2359200	Weak transcription	Fetal Lung	lung
43	chr9:2356000-2359400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:2356000-2359400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:2356000-2359400	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:2356000-2361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:2356000-2362800	Weak transcription	Ovary	ovary
48	chr9:2356200-2356600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:2356200-2359000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:2356600-2361200	Weak transcription	NHEK	skin

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