Variant report

Variant	nsv1004665
Chromosome Location	chr3:162898700-162914165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr3:162900110-162900118	H1-hESC	embryonic stem cell:	n/a	n/a
2	CUX1	chr3:162904026-162904103	K562	blood:	n/a	n/a
3	E2F4	chr3:162902166-162902451	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr3:162912011-162912176	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr3:162912401-162912480	GM12878	blood:	n/a	n/a
6	FOXP2	chr3:162903445-162903861	SK-N-MC	brain:	n/a	n/a
7	IRF1	chr3:162904760-162904763	K562	blood:	n/a	n/a
8	IRF1	chr3:162899238-162899248	K562	blood:	n/a	n/a
9	MAFK	chr3:162902207-162902407	HepG2	liver:	n/a	n/a
10	MAZ	chr3:162905807-162905997	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:162903272-162904244	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr3:162900499-162900524	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:162907640-162907661	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr3:162900297-162900464	K562	blood:	n/a	n/a
15	STAT3	chr3:162912262-162912725	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr3:162910554-162910579	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:162905018-162905052	NONHSAT093031
2	lnc-SI-4	chr3:162904856-162905052	ENSG00000241369
3	lnc-SI-4	chr3:162900619-162900716	ENSG00000241369
4	lnc-SI-4	chr3:162900619-162900698	ENSG00000241369

No data

Variant related genes	Relation type
CT64	TF binding region
ENSG00000238398	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143752302	chr3:162900303-162900304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556880932	chr3:162900326-162900327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs16845656	chr3:162900338-162900339	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533569538	chr3:162900363-162900364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs148132618	chr3:162900375-162900376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs142972337	chr3:162900377-162900378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543389756	chr3:162900413-162900414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs16845660	chr3:162900420-162900421	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181450664	chr3:162900443-162900444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1388715	chr3:162900460-162900461	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112555367	chr3:162900505-162900506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541048342	chr3:162900621-162900622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs35869478	chr3:162900661-162900662	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376743019	chr3:162900710-162900711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185430846	chr3:162900712-162900713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs534908235	chr3:162902169-162902170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554609015	chr3:162902171-162902172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs574572726	chr3:162902213-162902214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs59080944	chr3:162902243-162902244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs143965204	chr3:162902256-162902257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9818487	chr3:162902291-162902292	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113217414	chr3:162902315-162902316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531329728	chr3:162902319-162902320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557827365	chr3:162902327-162902328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552310869	chr3:162902336-162902337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565210263	chr3:162902363-162902364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572114547	chr3:162902367-162902368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569366505	chr3:162902377-162902378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs541210544	chr3:162902430-162902431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4323011	chr3:162902431-162902432	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539575148	chr3:162903395-162903396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs151257128	chr3:162903438-162903439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs12330705	chr3:162903481-162903482	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534873244	chr3:162903488-162903489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554905890	chr3:162903529-162903530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574656587	chr3:162903539-162903540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539010892	chr3:162903562-162903563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112847855	chr3:162903565-162903566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs543618678	chr3:162903571-162903572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs556910772	chr3:162903613-162903614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554153545	chr3:162903625-162903626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs576870183	chr3:162903678-162903679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs545620793	chr3:162903743-162903744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559262418	chr3:162903757-162903758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528079710	chr3:162903758-162903759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9844371	chr3:162903770-162903771	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562061650	chr3:162903778-162903779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs1388716	chr3:162903782-162903783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs147388787	chr3:162903791-162903792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372309266	chr3:162903817-162903818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162904600-162905000	ZNF genes & repeats	Dnd41	blood

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