Variant report

Variant	nsv1023839
Chromosome Location	chr7:13617615-13735946
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	chr7:13726746..13728268-chr7:14029761..14031968,2	K562	blood:

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

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 2042 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2042 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1525678	chr7:13617615-13617616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147593669	chr7:13617701-13617702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190169941	chr7:13617742-13617743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567062062	chr7:13617773-13617774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538884381	chr7:13617774-13617775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142131462	chr7:13617784-13617785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575032048	chr7:13617791-13617792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537517092	chr7:13617849-13617850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570007718	chr7:13617920-13617921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79564298	chr7:13617987-13617988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574306166	chr7:13617994-13617995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540530827	chr7:13618006-13618007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560229774	chr7:13618032-13618033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577205640	chr7:13618034-13618035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145924553	chr7:13618078-13618079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535764475	chr7:13618092-13618093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138605578	chr7:13618128-13618129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148901826	chr7:13618137-13618138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182425164	chr7:13618140-13618141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143624007	chr7:13618171-13618172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201930587	chr7:13618204-13618205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546961223	chr7:13618251-13618252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566854192	chr7:13618332-13618333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538933674	chr7:13618338-13618339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76603669	chr7:13618365-13618366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62451874	chr7:13618396-13618397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs117731196	chr7:13618471-13618472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554328467	chr7:13618499-13618500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373498184	chr7:13618520-13618521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377574706	chr7:13618525-13618526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533600826	chr7:13618543-13618544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377051429	chr7:13618545-13618546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553704919	chr7:13618547-13618548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13234130	chr7:13618649-13618650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546084746	chr7:13618654-13618655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531974548	chr7:13618680-13618681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576255487	chr7:13618683-13618684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544699453	chr7:13618701-13618702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148075942	chr7:13618777-13618778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs67184261	chr7:13618862-13618863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186861346	chr7:13618863-13618864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74827521	chr7:13618914-13618915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532691810	chr7:13618941-13618942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552406903	chr7:13618945-13618946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569118527	chr7:13618948-13618949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531853114	chr7:13618954-13618955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548762190	chr7:13618962-13618963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568089454	chr7:13618991-13618992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562198891	chr7:13619024-13619025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191319297	chr7:13619069-13619070	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13617200-13618000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:13617200-13619000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:13617200-13619000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:13617200-13619200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:13617200-13619800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:13617400-13619000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:13617600-13619200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:13618400-13619000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:13637200-13637800	Enhancers	Fetal Intestine Small	intestine
10	chr7:13638400-13638800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:13639000-13639600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:13640400-13640600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:13641800-13644000	Enhancers	Fetal Brain Male	brain
14	chr7:13642200-13644600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:13642800-13644400	Enhancers	NHEK	skin
16	chr7:13643000-13644400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:13643000-13644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:13643000-13644800	Enhancers	HMEC	breast
19	chr7:13647200-13647600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr7:13647200-13647600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:13647400-13647600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:13660200-13660600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:13660400-13660600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:13661000-13663000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:13662000-13663200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:13662400-13663200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:13662600-13663000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:13663000-13664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:13663200-13663600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:13663200-13663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:13663600-13664000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:13663600-13664200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:13667000-13669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:13667800-13668800	Enhancers	Osteobl	bone
35	chr7:13668000-13668600	Enhancers	HMEC	breast
36	chr7:13668000-13668800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:13668000-13668800	Enhancers	NH-A	brain
38	chr7:13668000-13669000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:13668200-13668600	Enhancers	HSMM	muscle
40	chr7:13668200-13669000	Enhancers	NHDF-Ad	bronchial
41	chr7:13668400-13668800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:13669000-13681400	Weak transcription	NHDF-Ad	bronchial
43	chr7:13679000-13679200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:13679000-13679400	Enhancers	Fetal Muscle Leg	muscle
45	chr7:13679000-13679400	Enhancers	Psoas Muscle	Psoas
46	chr7:13679000-13679400	Enhancers	HSMMtube	muscle
47	chr7:13679200-13679400	Enhancers	Fetal Lung	lung
48	chr7:13679600-13681400	Weak transcription	Fetal Lung	lung
49	chr7:13681000-13681800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:13681400-13681600	Enhancers	NHDF-Ad	bronchial

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