Variant report

Variant	nsv1033492
Chromosome Location	chr7:13690422-13746454
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	chr7:13739444..13741121-chr7:14029651..14032169,2	K562	blood:
2	chr7:13726746..13728268-chr7:14029761..14031968,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13743687-13743774	XLOC_005988
2	lnc-ARL4A-7	chr7:13710212-13710299	NONHSAT119248

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 1197 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1197 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539825434	chr7:13690467-13690468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560042305	chr7:13690471-13690472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532434056	chr7:13690481-13690482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545721044	chr7:13690514-13690515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544577111	chr7:13690516-13690517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184966506	chr7:13690524-13690525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57726468	chr7:13690531-13690532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150633178	chr7:13690573-13690574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200572488	chr7:13690580-13690581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567681779	chr7:13690612-13690613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530153252	chr7:13690623-13690624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546997670	chr7:13690657-13690658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13232273	chr7:13690679-13690680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138792165	chr7:13690681-13690682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs41379446	chr7:13690718-13690719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569402308	chr7:13690783-13690784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551144013	chr7:13690787-13690788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537562974	chr7:13690797-13690798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201644514	chr7:13690809-13690810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139856683	chr7:13690841-13690842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374354820	chr7:13690848-13690849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546646845	chr7:13690860-13690861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559346901	chr7:13690869-13690870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528100610	chr7:13690875-13690876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs652466	chr7:13690916-13690917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117115069	chr7:13690944-13690945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189763001	chr7:13691014-13691015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539888104	chr7:13691064-13691065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142082392	chr7:13691090-13691091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577074273	chr7:13691122-13691123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181023233	chr7:13691136-13691137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116195877	chr7:13691151-13691152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10266134	chr7:13691165-13691166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542031892	chr7:13691178-13691179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561397522	chr7:13691220-13691221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375879124	chr7:13691226-13691227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530205955	chr7:13691247-13691248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59700575	chr7:13691252-13691253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560448949	chr7:13691265-13691266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186153891	chr7:13691300-13691301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552800440	chr7:13691354-13691355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569433667	chr7:13691355-13691356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538076530	chr7:13691385-13691386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548370453	chr7:13691391-13691392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567856357	chr7:13691402-13691403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533602542	chr7:13691410-13691411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116083817	chr7:13691421-13691422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146364647	chr7:13691448-13691449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539370029	chr7:13691450-13691451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188053146	chr7:13691463-13691464	Weak transcription	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13688600-13697600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:13696200-13697800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:13696200-13698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:13697600-13698200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:13712600-13714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:13713000-13713200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:13713000-13713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:13713200-13717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:13713200-13719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:13717200-13718200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr7:13717600-13718000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:13720800-13721400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:13735200-13735800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:13737400-13741800	Weak transcription	Fetal Brain Male	brain
15	chr7:13741800-13742000	Enhancers	Fetal Brain Male	brain
16	chr7:13742200-13742400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:13742400-13743000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:13742600-13743600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:13743000-13743600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:13743200-13744000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13743600-13744000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:13743600-13745400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:13745400-13746400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:13745600-13745800	Enhancers	HUES48 Cell Line	embryonic stem cell

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