Variant report

Variant	nsv1026929
Chromosome Location	chr7:13597929-13716063
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	chr7:13593591..13595646-chr7:13599156..13601092,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13710212-13710299	NONHSAT119248
2	lnc-ARL4A-1	chr7:13676271-13676357	XLOC_005988
3	lnc-ARL4A-7	chr7:13642796-13642882	NONHSAT119248

Extended variants
information (count: 1843 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1843 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147336745	chr7:13599607-13599608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148392245	chr7:13599616-13599617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112808367	chr7:13599632-13599633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570057915	chr7:13599676-13599677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577786835	chr7:13599746-13599747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546098783	chr7:13599794-13599795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11767013	chr7:13599845-13599846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562400662	chr7:13599885-13599886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1852178	chr7:13599946-13599947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139524509	chr7:13599956-13599957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184822397	chr7:13599966-13599967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1852177	chr7:13599977-13599978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188516819	chr7:13600003-13600004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143307734	chr7:13600004-13600005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531946630	chr7:13600024-13600025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561654725	chr7:13600090-13600091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78207078	chr7:13600138-13600139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568765887	chr7:13600146-13600147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538140685	chr7:13600147-13600148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35484666	chr7:13600155-13600156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36118553	chr7:13600156-13600157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548565579	chr7:13600157-13600158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75641705	chr7:13600158-13600159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71033924	chr7:13600172-13600173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542019057	chr7:13600184-13600185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146724377	chr7:13600209-13600210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113778900	chr7:13600222-13600223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73269475	chr7:13600236-13600237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556686536	chr7:13600250-13600251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139346193	chr7:13600289-13600290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570678208	chr7:13600323-13600324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116050868	chr7:13600331-13600332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76885846	chr7:13600333-13600334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532943001	chr7:13600339-13600340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544870799	chr7:13600345-13600346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146517523	chr7:13600347-13600348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568506431	chr7:13600366-13600367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570098528	chr7:13600377-13600378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375002060	chr7:13600383-13600384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35467216	chr7:13600420-13600421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181022468	chr7:13600424-13600425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200188133	chr7:13600435-13600436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149130882	chr7:13600456-13600457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201362572	chr7:13600466-13600467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114896912	chr7:13600475-13600476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75955664	chr7:13600479-13600480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551804584	chr7:13600480-13600481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568826164	chr7:13600489-13600490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531542255	chr7:13600510-13600511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143245490	chr7:13600523-13600524	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13599600-13600800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:13617200-13618000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:13617200-13619000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:13617200-13619000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:13617200-13619200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:13617200-13619800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:13617400-13619000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:13617600-13619200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:13618400-13619000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:13637200-13637800	Enhancers	Fetal Intestine Small	intestine
11	chr7:13638400-13638800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:13639000-13639600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:13640400-13640600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:13641800-13644000	Enhancers	Fetal Brain Male	brain
15	chr7:13642200-13644600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:13642800-13644400	Enhancers	NHEK	skin
17	chr7:13643000-13644400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:13643000-13644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:13643000-13644800	Enhancers	HMEC	breast
20	chr7:13647200-13647600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr7:13647200-13647600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:13647400-13647600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:13660200-13660600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:13660400-13660600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:13661000-13663000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:13662000-13663200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:13662400-13663200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:13662600-13663000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:13663000-13664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:13663200-13663600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:13663200-13663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:13663600-13664000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:13663600-13664200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:13667000-13669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:13667800-13668800	Enhancers	Osteobl	bone
36	chr7:13668000-13668600	Enhancers	HMEC	breast
37	chr7:13668000-13668800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:13668000-13668800	Enhancers	NH-A	brain
39	chr7:13668000-13669000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:13668200-13668600	Enhancers	HSMM	muscle
41	chr7:13668200-13669000	Enhancers	NHDF-Ad	bronchial
42	chr7:13668400-13668800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:13669000-13681400	Weak transcription	NHDF-Ad	bronchial
44	chr7:13679000-13679200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:13679000-13679400	Enhancers	Fetal Muscle Leg	muscle
46	chr7:13679000-13679400	Enhancers	Psoas Muscle	Psoas
47	chr7:13679000-13679400	Enhancers	HSMMtube	muscle
48	chr7:13679200-13679400	Enhancers	Fetal Lung	lung
49	chr7:13679600-13681400	Weak transcription	Fetal Lung	lung
50	chr7:13681000-13681800	Enhancers	Muscle Satellite Cultured Cells	--

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