Variant report

Variant	nsv966953
Chromosome Location	chr3:120809440-120824854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:120822725-120822791	IMR90	lung:	n/a	n/a
2	CEBPB	chr3:120822664-120822845	HepG2	liver:	n/a	n/a
3	CTCF	chr3:120813164-120813221	Lung_OC	lung:	n/a	n/a
4	FOXA1	chr3:120815836-120816170	HepG2	liver:	n/a	n/a
5	FOXA1	chr3:120815864-120816162	T-47D	breast:	n/a	n/a
6	FOXA1	chr3:120815820-120816076	HepG2	liver:	n/a	n/a
7	FOXA1	chr3:120815822-120816200	HepG2	liver:	n/a	n/a
8	FOXA1	chr3:120815796-120816167	T-47D	breast:	n/a	n/a
9	FOXA1	chr3:120815857-120816191	HepG2	liver:	n/a	n/a
10	FOXA2	chr3:120815784-120816156	A549	lung:	n/a	n/a
11	FOXA2	chr3:120815820-120816044	HepG2	liver:	n/a	n/a
12	FOXA2	chr3:120815897-120816220	A549	lung:	n/a	n/a
13	POLR2A	chr3:120815979-120816144	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:120816030-120816033	A549	lung:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2E1-4	chr3:120817955-120818621	NONHSAT091470

No data

Variant related genes	Relation type
ENSG00000243813	TF binding region

Extended variants
information (count: 181 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548855179	chr3:120813177-120813178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139671819	chr3:120813178-120813179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146907630	chr3:120813191-120813192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551412646	chr3:120813201-120813202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571536707	chr3:120813211-120813212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537370963	chr3:120813215-120813216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368664432	chr3:120815200-120815201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539924428	chr3:120815232-120815233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533885526	chr3:120815236-120815237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375946529	chr3:120815249-120815250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533258350	chr3:120815269-120815270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533280714	chr3:120815280-120815281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540179579	chr3:120815286-120815287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115544675	chr3:120815287-120815288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539009507	chr3:120815294-120815295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185378619	chr3:120815312-120815313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368282523	chr3:120815314-120815315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142558331	chr3:120815318-120815319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7648200	chr3:120815348-120815349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13060148	chr3:120815365-120815366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572099449	chr3:120815382-120815383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541237513	chr3:120815405-120815406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564537585	chr3:120815408-120815409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189495214	chr3:120815415-120815416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375187332	chr3:120815421-120815422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7648217	chr3:120815424-120815425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563569977	chr3:120815440-120815441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372975686	chr3:120815441-120815442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376960742	chr3:120815467-120815468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147578830	chr3:120815475-120815476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192194318	chr3:120815488-120815489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529569747	chr3:120815492-120815493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559997049	chr3:120815500-120815501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55735561	chr3:120815508-120815509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551571893	chr3:120815511-120815512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570181857	chr3:120815529-120815530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569114642	chr3:120815533-120815534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184975967	chr3:120815534-120815535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188466761	chr3:120815535-120815536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72956027	chr3:120815556-120815557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535735078	chr3:120815561-120815562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144174371	chr3:120815571-120815572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565982336	chr3:120815587-120815588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113204177	chr3:120815608-120815609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147961601	chr3:120815668-120815669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140591613	chr3:120815690-120815691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543977344	chr3:120815700-120815701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181657447	chr3:120815741-120815742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7648612	chr3:120815781-120815782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7637100	chr3:120815806-120815807	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120815200-120816400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:120815400-120815800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:120815600-120816000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:120815600-120816000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:120815800-120816200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:120815800-120816200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:120816400-120816600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:120816600-120817200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:120817600-120817800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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