Variant report

Variant	nsv1017322
Chromosome Location	chr7:13661784-13733606
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	chr7:13710212-13710299	NONHSAT119248
2	lnc-ARL4A-1	chr7:13676271-13676357	XLOC_005988

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 1695 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1695 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181950864	chr7:13661815-13661816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79178940	chr7:13661816-13661817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368527646	chr7:13661817-13661818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532335597	chr7:13661852-13661853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538786302	chr7:13661869-13661870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186071026	chr7:13661929-13661930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191613592	chr7:13661972-13661973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10807768	chr7:13662014-13662015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77306619	chr7:13662050-13662051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574608484	chr7:13662068-13662069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540502217	chr7:13662074-13662075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553576943	chr7:13662085-13662086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576620508	chr7:13662100-13662101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529994398	chr7:13662146-13662147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540454142	chr7:13662156-13662157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183617249	chr7:13662169-13662170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12670739	chr7:13662278-13662279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368186940	chr7:13662296-13662297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530960087	chr7:13662329-13662330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544246597	chr7:13662374-13662375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572163899	chr7:13662414-13662415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186483291	chr7:13662495-13662496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530356433	chr7:13662498-13662499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369644828	chr7:13662508-13662509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547311192	chr7:13662536-13662537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567109297	chr7:13662559-13662560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148150233	chr7:13662572-13662573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191364545	chr7:13662578-13662579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182832243	chr7:13662597-13662598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186877834	chr7:13662608-13662609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537860201	chr7:13662611-13662612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554300116	chr7:13662662-13662663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114200690	chr7:13662672-13662673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533878534	chr7:13662676-13662677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532659625	chr7:13662730-13662731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1852179	chr7:13662782-13662783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs79918809	chr7:13662801-13662802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs994395	chr7:13662833-13662834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191250648	chr7:13662862-13662863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183410921	chr7:13662875-13662876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561173545	chr7:13662921-13662922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs994394	chr7:13662934-13662935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs994393	chr7:13662969-13662970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147329056	chr7:13663006-13663007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374792226	chr7:13663008-13663009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116418598	chr7:13663058-13663059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2357719	chr7:13663098-13663099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553961819	chr7:13663099-13663100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531331773	chr7:13663117-13663118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373479231	chr7:13663132-13663133	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
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13661000-13663000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:13662000-13663200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:13662400-13663200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:13662600-13663000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:13663000-13664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:13663200-13663600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:13663200-13663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:13663600-13664000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:13663600-13664200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:13667000-13669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:13667800-13668800	Enhancers	Osteobl	bone
12	chr7:13668000-13668600	Enhancers	HMEC	breast
13	chr7:13668000-13668800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:13668000-13668800	Enhancers	NH-A	brain
15	chr7:13668000-13669000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:13668200-13668600	Enhancers	HSMM	muscle
17	chr7:13668200-13669000	Enhancers	NHDF-Ad	bronchial
18	chr7:13668400-13668800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:13669000-13681400	Weak transcription	NHDF-Ad	bronchial
20	chr7:13679000-13679200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:13679000-13679400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:13679000-13679400	Enhancers	Psoas Muscle	Psoas
23	chr7:13679000-13679400	Enhancers	HSMMtube	muscle
24	chr7:13679200-13679400	Enhancers	Fetal Lung	lung
25	chr7:13679600-13681400	Weak transcription	Fetal Lung	lung
26	chr7:13681000-13681800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:13681400-13681600	Enhancers	NHDF-Ad	bronchial
28	chr7:13681400-13681800	Enhancers	Fetal Lung	lung
29	chr7:13681400-13682000	Enhancers	Osteobl	bone
30	chr7:13681600-13682400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:13687800-13688200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:13687800-13688600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:13688000-13688400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:13688000-13688400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:13688000-13688600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:13688200-13688600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:13688600-13697600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:13696200-13697800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:13696200-13698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:13697600-13698200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr7:13712600-13714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:13713000-13713200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:13713000-13713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:13713200-13717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:13713200-13719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:13717200-13718200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr7:13717600-13718000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:13720800-13721400	Enhancers	Primary neutrophils fromperipheralblood	blood

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