Variant report

Variant	nsv819439
Chromosome Location	chr3:159800647-159815768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:159813300-159813450	GM12870	blood:	n/a	n/a
2	CTCF	chr3:159808700-159808850	GM12868	blood:	n/a	n/a
3	EP300	chr3:159809974-159810045	HepG2	liver:	n/a	n/a
4	EP300	chr3:159812359-159812811	HepG2	liver:	n/a	n/a
5	FOXA1	chr3:159809252-159809602	HepG2	liver:	n/a	n/a
6	FOXA1	chr3:159812454-159812774	HepG2	liver:	n/a	n/a
7	FOXA1	chr3:159809221-159809604	HepG2	liver:	n/a	n/a
8	FOXA1	chr3:159812392-159812729	HepG2	liver:	n/a	n/a
9	FOXA1	chr3:159809227-159809623	HepG2	liver:	n/a	n/a
10	FOXA1	chr3:159809214-159809583	T-47D	breast:	n/a	n/a
11	FOXA1	chr3:159809203-159809634	HepG2	liver:	n/a	n/a
12	FOXA1	chr3:159812439-159812752	HepG2	liver:	n/a	n/a
13	FOXA1	chr3:159809176-159809583	T-47D	breast:	n/a	n/a
14	FOXA1	chr3:159812361-159812683	HepG2	liver:	n/a	n/a
15	FOXA2	chr3:159812434-159812670	HepG2	liver:	n/a	n/a
16	GATA3	chr3:159809152-159809749	T-47D	breast:	n/a	n/a
17	GATA3	chr3:159809121-159809642	T-47D	breast:	n/a	n/a
18	JUN	chr3:159806661-159806944	HepG2	liver:	n/a	chr3:159806790-159806803 chr3:159806806-159806819
19	JUND	chr3:159806636-159806955	HepG2	liver:	n/a	n/a
20	JUND	chr3:159804823-159805030	HepG2	liver:	n/a	chr3:159804972-159804981
21	MAX	chr3:159812583-159812673	HepG2	liver:	n/a	n/a
22	MAX	chr3:159812441-159812811	HepG2	liver:	n/a	n/a
23	MAX	chr3:159814683-159814696	NB4	blood:	n/a	n/a
24	NR2F2	chr3:159812244-159812861	HepG2	liver:	n/a	n/a
25	NR2F2	chr3:159812365-159812759	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:159810382-159810404	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr3:159802437-159802637	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr3:159807094-159807144	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr3:159800790-159800883	MCF10A-Er-Src	breast:	n/a	n/a
30	RXRA	chr3:159812361-159812683	HepG2	liver:	n/a	chr3:159812627-159812646
31	SP1	chr3:159812362-159812758	HepG2	liver:	n/a	n/a
32	STAT3	chr3:159813497-159813635	MCF10A-Er-Src	breast:	n/a	n/a
33	USF2	chr3:159800896-159800988	GM12878	blood:	n/a	n/a
34	USF2	chr3:159809982-159810033	HepG2	liver:	n/a	n/a
35	ZEB1	chr3:159812369-159812855	HepG2	liver:	n/a	chr3:159812700-159812707
36	ZKSCAN1	chr3:159801227-159801306	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:159814166..159816690-chr3:159817105..159819056,2	K562	blood:
2	chr3:159804455..159806862-chr3:159807790..159810359,2	K562	blood:
3	chr3:159804455..159806862-chr3:159807790..159810359,2	K562	blood:

No data

Variant related genes	Relation type
BRD7P2	TF binding region
ENSG00000184100	chromatin interactions

Extended variants
information (count: 607 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146219896	chr3:159800746-159800747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544491089	chr3:159800755-159800756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112714346	chr3:159800767-159800768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144769122	chr3:159800778-159800779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535895443	chr3:159800781-159800782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73171904	chr3:159800783-159800784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545190118	chr3:159800793-159800794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560412928	chr3:159800802-159800803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527361135	chr3:159800808-159800809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542394636	chr3:159800831-159800832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560932736	chr3:159800839-159800840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6795264	chr3:159800890-159800891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144032658	chr3:159800894-159800895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143899155	chr3:159800909-159800910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80295088	chr3:159800917-159800918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551535286	chr3:159800947-159800948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375767376	chr3:159800975-159800976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534310440	chr3:159800980-159800981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75677206	chr3:159800981-159800982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558607121	chr3:159801035-159801036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370103447	chr3:159801057-159801058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567746048	chr3:159801100-159801101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6807951	chr3:159801108-159801109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556581588	chr3:159801125-159801126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578019579	chr3:159801128-159801129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538905744	chr3:159801134-159801135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554023894	chr3:159801145-159801146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182622634	chr3:159801172-159801173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370963372	chr3:159801173-159801174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34134292	chr3:159801202-159801203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542707564	chr3:159801242-159801243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544091530	chr3:159801280-159801281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560862569	chr3:159801306-159801307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185478748	chr3:159801329-159801330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368260659	chr3:159801338-159801339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76425517	chr3:159801359-159801360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564513537	chr3:159801472-159801473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189836499	chr3:159801496-159801497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551618874	chr3:159801520-159801521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373982842	chr3:159801526-159801527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376903984	chr3:159801527-159801528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560318039	chr3:159801564-159801565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527927610	chr3:159801576-159801577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549545978	chr3:159801696-159801697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567689020	chr3:159801748-159801749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148610128	chr3:159801751-159801752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550220002	chr3:159801760-159801761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571633046	chr3:159801780-159801781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182619151	chr3:159801818-159801819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115835199	chr3:159801819-159801820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159794400-159803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:159798600-159801800	Weak transcription	Esophagus	oesophagus
3	chr3:159800000-159801000	Enhancers	Gastric	stomach
4	chr3:159801000-159814600	Weak transcription	Gastric	stomach
5	chr3:159801800-159802000	Enhancers	Esophagus	oesophagus
6	chr3:159802000-159802600	Weak transcription	Esophagus	oesophagus
7	chr3:159802600-159802800	Enhancers	Esophagus	oesophagus
8	chr3:159802800-159803600	Enhancers	HMEC	breast
9	chr3:159802800-159808000	Weak transcription	Esophagus	oesophagus
10	chr3:159803000-159803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:159806000-159807000	Enhancers	Liver	Liver
12	chr3:159806200-159807000	Enhancers	Pancreas	Pancrea
13	chr3:159807000-159825000	Weak transcription	Pancreas	Pancrea
14	chr3:159808000-159808200	Enhancers	Esophagus	oesophagus
15	chr3:159808200-159813200	Weak transcription	Esophagus	oesophagus
16	chr3:159809200-159809600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:159812000-159812800	Enhancers	HepG2	liver
18	chr3:159812800-159816400	Weak transcription	HepG2	liver
19	chr3:159813200-159813400	Enhancers	Esophagus	oesophagus
20	chr3:159813400-159815000	Weak transcription	Esophagus	oesophagus
21	chr3:159814600-159815800	Enhancers	Gastric	stomach
22	chr3:159815000-159816400	Enhancers	Esophagus	oesophagus
23	chr3:159815200-159817000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:159815600-159816000	Enhancers	Osteobl	bone

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