Variant report

Variant	nsv967729
Chromosome Location	chr4:16361681-16363335
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	chr4:16360699..16362829-chr4:16383139..16385452,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAPT1-3	chr4:16362507-16362611	NONHSAT095687

Extended variants
information (count: 53 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578216974	chr4:16362212-16362213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113445816	chr4:16362232-16362233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193007166	chr4:16362262-16362263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573757506	chr4:16362273-16362274	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62298779	chr4:16362274-16362275	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs202158614	chr4:16362276-16362277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182541309	chr4:16362322-16362323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs28491434	chr4:16362323-16362324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576165493	chr4:16362374-16362375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544911568	chr4:16362383-16362384	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565179590	chr4:16362385-16362386	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142199136	chr4:16362420-16362421	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547324899	chr4:16362423-16362424	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs41422348	chr4:16362435-16362436	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529784725	chr4:16362459-16362460	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549877853	chr4:16362485-16362486	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs569800840	chr4:16362509-16362510	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538425142	chr4:16362511-16362512	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs11722358	chr4:16362524-16362525	Active TSS ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571862204	chr4:16362527-16362528	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs534235585	chr4:16362528-16362529	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs187903994	chr4:16362573-16362574	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs573720356	chr4:16362581-16362582	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs193009345	chr4:16362584-16362585	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs184971111	chr4:16362585-16362586	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs189599129	chr4:16362592-16362593	Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs545186956	chr4:16362605-16362606	Active TSS ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs564937173	chr4:16362619-16362620	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572269113	chr4:16362630-16362631	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541357060	chr4:16362664-16362665	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561191630	chr4:16362682-16362683	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529695116	chr4:16362685-16362686	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs16893388	chr4:16362753-16362754	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs563368459	chr4:16362761-16362762	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539496474	chr4:16362771-16362772	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs139637366	chr4:16362802-16362803	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs16893390	chr4:16362803-16362804	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571764832	chr4:16362811-16362812	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs527959460	chr4:16362823-16362824	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547663117	chr4:16362891-16362892	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs36054135	chr4:16362918-16362919	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10489057	chr4:16362949-16362950	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35413438	chr4:16362955-16362956	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1963816	chr4:16362997-16362998	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555651014	chr4:16363041-16363042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532230405	chr4:16363045-16363046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550715026	chr4:16363056-16363057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73798741	chr4:16363077-16363078	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575604311	chr4:16363131-16363132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538768251	chr4:16363154-16363155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16362200-16362600	Active TSS	K562	blood
2	chr4:16362400-16363000	Active TSS	Placenta	Placenta
3	chr4:16362400-16363200	ZNF genes & repeats	Pancreas	Pancrea
4	chr4:16362600-16362800	Flanking Active TSS	K562	blood

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