Variant report

Variant	esv3358384
Chromosome Location	chr3:159812458-159816056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	EP300	chr3:159812359-159812811	HepG2	liver:	n/a	n/a
3	FOS	chr3:159816053-159816282	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:159816050-159816226	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr3:159816036-159816262	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA1	chr3:159812439-159812752	HepG2	liver:	n/a	n/a
7	FOXA1	chr3:159812454-159812774	HepG2	liver:	n/a	n/a
8	FOXA1	chr3:159812361-159812683	HepG2	liver:	n/a	n/a
9	FOXA1	chr3:159812392-159812729	HepG2	liver:	n/a	n/a
10	FOXA2	chr3:159812434-159812670	HepG2	liver:	n/a	n/a
11	MAX	chr3:159812441-159812811	HepG2	liver:	n/a	n/a
12	MAX	chr3:159812583-159812673	HepG2	liver:	n/a	n/a
13	MAX	chr3:159814683-159814696	NB4	blood:	n/a	n/a
14	NR2F2	chr3:159812365-159812759	HepG2	liver:	n/a	n/a
15	NR2F2	chr3:159812244-159812861	HepG2	liver:	n/a	n/a
16	RXRA	chr3:159812361-159812683	HepG2	liver:	n/a	chr3:159812627-159812646
17	SP1	chr3:159812362-159812758	HepG2	liver:	n/a	n/a
18	STAT3	chr3:159813497-159813635	MCF10A-Er-Src	breast:	n/a	n/a
19	ZEB1	chr3:159812369-159812855	HepG2	liver:	n/a	chr3:159812700-159812707

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159814166..159816690-chr3:159817105..159819056,2	K562	blood:

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

Extended variants
information (count: 153 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs568199102	chr3:159812484-159812485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533433234	chr3:159812615-159812616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76104209	chr3:159812672-159812673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551496618	chr3:159812775-159812776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535469881	chr3:159812820-159812821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4680553	chr3:159812905-159812906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75557420	chr3:159812906-159812907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555740393	chr3:159812914-159812915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201606716	chr3:159812973-159812974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137917555	chr3:159812992-159812993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567551961	chr3:159812997-159812998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76645726	chr3:159813032-159813033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74366328	chr3:159813071-159813072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190189673	chr3:159813082-159813083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4680554	chr3:159813096-159813097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553491948	chr3:159813122-159813123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571755674	chr3:159813123-159813124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375154925	chr3:159813129-159813130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114592242	chr3:159813136-159813137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562076034	chr3:159813151-159813152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529521102	chr3:159813166-159813167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539788074	chr3:159813177-159813178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558426108	chr3:159813230-159813231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576739709	chr3:159813268-159813269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562429659	chr3:159813269-159813270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143384901	chr3:159813272-159813273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147332031	chr3:159813307-159813308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551898005	chr3:159813375-159813376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79882799	chr3:159813382-159813383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527723572	chr3:159813416-159813417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192780975	chr3:159813443-159813444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184861027	chr3:159813462-159813463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538102306	chr3:159813507-159813508	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556092534	chr3:159813546-159813547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs116281145	chr3:159813550-159813551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs77536303	chr3:159813568-159813569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs141567510	chr3:159813655-159813656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150888718	chr3:159813659-159813660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139356237	chr3:159813709-159813710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189377730	chr3:159813719-159813720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574005619	chr3:159813790-159813791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544844109	chr3:159813849-159813850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541025116	chr3:159813859-159813860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75988219	chr3:159813861-159813862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150009704	chr3:159813898-159813899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533615722	chr3:159813929-159813930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180866945	chr3:159813930-159813931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560665756	chr3:159813963-159813964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4680555	chr3:159813969-159813970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549416242	chr3:159814019-159814020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159801000-159814600	Weak transcription	Gastric	stomach
2	chr3:159807000-159825000	Weak transcription	Pancreas	Pancrea
3	chr3:159808200-159813200	Weak transcription	Esophagus	oesophagus
4	chr3:159812000-159812800	Enhancers	HepG2	liver
5	chr3:159812800-159816400	Weak transcription	HepG2	liver
6	chr3:159813200-159813400	Enhancers	Esophagus	oesophagus
7	chr3:159813400-159815000	Weak transcription	Esophagus	oesophagus
8	chr3:159814600-159815800	Enhancers	Gastric	stomach
9	chr3:159815000-159816400	Enhancers	Esophagus	oesophagus
10	chr3:159815200-159817000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:159815600-159816000	Enhancers	Osteobl	bone
12	chr3:159815800-159816800	Weak transcription	Gastric	stomach
13	chr3:159816000-159816600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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