Variant report

Variant	nsv1001692
Chromosome Location	chr2:34131739-34209678
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	ATF2	chr2:34154420-34154896	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:34192200-34192503	Hela-S3	cervix:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
3	CEBPB	chr2:34151939-34152080	HepG2	liver:	n/a	chr2:34152019-34152030
4	CEBPB	chr2:34153006-34153284	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:34192173-34192471	MCF-7	breast:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
6	CEBPB	chr2:34178145-34178467	A549	lung:	n/a	chr2:34178298-34178309
7	CEBPB	chr2:34192186-34192539	K562	blood:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
8	CEBPB	chr2:34195079-34195308	K562	blood:	n/a	chr2:34195181-34195192
9	CEBPB	chr2:34147478-34147805	HepG2	liver:	n/a	chr2:34147619-34147630
10	CEBPB	chr2:34192195-34192513	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
11	CEBPB	chr2:34192184-34192548	HepG2	liver:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
12	CEBPB	chr2:34135027-34135284	HepG2	liver:	n/a	chr2:34135192-34135203
13	CEBPB	chr2:34178133-34178487	HepG2	liver:	n/a	chr2:34178298-34178309
14	CEBPB	chr2:34135075-34135323	MCF-7	breast:	n/a	chr2:34135192-34135203
15	CEBPB	chr2:34174501-34174798	MCF-7	breast:	n/a	chr2:34174688-34174699
16	CEBPB	chr2:34192199-34192484	H1-hESC	embryonic stem cell:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
17	CEBPB	chr2:34195099-34195306	A549	lung:	n/a	chr2:34195181-34195192
18	CEBPB	chr2:34195029-34195354	IMR90	lung:	n/a	chr2:34195181-34195192
19	CEBPB	chr2:34135009-34135391	HepG2	liver:	n/a	chr2:34135192-34135203
20	CEBPB	chr2:34195043-34195332	HepG2	liver:	n/a	chr2:34195181-34195192
21	CEBPB	chr2:34194477-34194615	A549	lung:	n/a	n/a
22	CEBPB	chr2:34135044-34135347	A549	lung:	n/a	chr2:34135192-34135203
23	CEBPB	chr2:34135031-34135356	IMR90	lung:	n/a	chr2:34135192-34135203
24	CEBPB	chr2:34192184-34192536	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
25	CEBPB	chr2:34195103-34195289	H1-hESC	embryonic stem cell:	n/a	chr2:34195181-34195192
26	CEBPB	chr2:34152960-34153250	A549	lung:	n/a	n/a
27	CEBPB	chr2:34178118-34178466	IMR90	lung:	n/a	chr2:34178298-34178309
28	CEBPB	chr2:34135002-34135429	MCF-7	breast:	n/a	chr2:34135192-34135203
29	CEBPB	chr2:34135017-34135373	Hela-S3	cervix:	n/a	chr2:34135192-34135203
30	CEBPB	chr2:34192205-34192541	IMR90	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
31	CEBPB	chr2:34134997-34135391	HepG2	liver:	n/a	chr2:34135192-34135203
32	CEBPB	chr2:34135064-34135307	H1-hESC	embryonic stem cell:	n/a	chr2:34135192-34135203
33	CEBPB	chr2:34135074-34135413	HepG2	liver:	n/a	chr2:34135192-34135203
34	CEBPB	chr2:34192212-34192497	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
35	CEBPB	chr2:34174561-34174873	HepG2	liver:	n/a	chr2:34174688-34174699
36	CEBPD	chr2:34135044-34135328	HepG2	liver:	n/a	n/a
37	CREB1	chr2:34154589-34154875	GM12878	blood:	n/a	n/a
38	CTCF	chr2:34160121-34160192	Medullo	brain:	n/a	n/a
39	CTCF	chr2:34140857-34140899	LNCaP	prostate:	n/a	n/a
40	CTCF	chr2:34141884-34141936	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr2:34161636-34161692	GM20000	blood:	n/a	n/a
42	E2F4	chr2:34141608-34141710	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr2:34161223-34161365	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr2:34134481-34134569	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr2:34154708-34154876	GM12878	blood:	n/a	n/a
46	EP300	chr2:34154582-34154887	GM12878	blood:	n/a	n/a
47	FOS	chr2:34162034-34162148	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:34203252-34203537	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:34203272-34203535	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:34161917-34162166	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
2	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
2	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
3	lnc-RASGRP3-12	chr2:34147670-34148121	NONHSAT070029
4	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
5	lnc-RASGRP3-12	chr2:34146785-34146851	NONHSAT070029
6	lnc-RASGRP3-12	chr2:34145797-34145874	NONHSAT070029
7	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386

Variant related genes	Relation type
ENSG00000266861	TF binding region

Extended variants
information (count: 368 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72866596	chr2:34134620-34134621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147249566	chr2:34134636-34134637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139018386	chr2:34134652-34134653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538044037	chr2:34134705-34134706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557202761	chr2:34134714-34134715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577254515	chr2:34134737-34134738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1718711	chr2:34134739-34134740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201901906	chr2:34134753-34134754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1718710	chr2:34134789-34134790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1705132	chr2:34134802-34134803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542157130	chr2:34134823-34134824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74935512	chr2:34134831-34134832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1705131	chr2:34134854-34134855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs577168768	chr2:34134869-34134870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77378229	chr2:34134887-34134888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1705130	chr2:34134928-34134929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547882640	chr2:34134936-34134937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188621027	chr2:34134940-34134941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546278950	chr2:34134977-34134978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566438110	chr2:34135003-34135004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150849972	chr2:34135017-34135018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1705129	chr2:34135035-34135036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139285198	chr2:34135102-34135103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72866600	chr2:34135114-34135115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150036895	chr2:34135133-34135134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13413184	chr2:34135144-34135145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531445940	chr2:34135168-34135169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192686751	chr2:34135193-34135194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553039635	chr2:34135206-34135207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146113634	chr2:34135271-34135272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140189489	chr2:34135295-34135296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184522927	chr2:34135299-34135300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550046055	chr2:34135302-34135303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555673970	chr2:34135342-34135343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143887881	chr2:34135345-34135346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146674392	chr2:34135372-34135373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74848377	chr2:34135373-34135374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148823651	chr2:34135410-34135411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560288686	chr2:34135434-34135435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35844500	chr2:34135437-34135438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528926802	chr2:34135440-34135441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79627041	chr2:34135486-34135487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186691871	chr2:34135498-34135499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531605226	chr2:34135499-34135500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551290251	chr2:34135548-34135549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571459828	chr2:34135559-34135560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191149101	chr2:34135562-34135563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553078002	chr2:34135579-34135580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184974086	chr2:34135599-34135600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189705817	chr2:34135619-34135620	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34134600-34135600	Enhancers	Liver	Liver
2	chr2:34134800-34135600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:34135000-34135600	Enhancers	Brain Hippocampus Middle	brain
4	chr2:34135000-34135600	Enhancers	Fetal Lung	lung
5	chr2:34135000-34135800	Enhancers	Adipose Nuclei	Adipose
6	chr2:34141200-34143200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:34142400-34142800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:34149800-34150200	Enhancers	Fetal Kidney	kidney
9	chr2:34154400-34155200	Enhancers	GM12878-XiMat	blood
10	chr2:34183600-34184200	Enhancers	Fetal Brain Female	brain
11	chr2:34208600-34209200	Enhancers	Fetal Brain Male	brain

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