Variant report

Variant	nsv873823
Chromosome Location	chr2:34814518-34931915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:34814574-34814687	K562	blood:	n/a	n/a
2	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
3	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
4	BATF	chr2:34881803-34882061	GM12878	blood:	n/a	n/a
5	BATF	chr2:34902925-34903229	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:34891473-34891834	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:34827333-34827668	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
11	CEBPB	chr2:34931219-34931422	HepG2	liver:	n/a	chr2:34931302-34931313
12	CEBPB	chr2:34876038-34876081	K562	blood:	n/a	n/a
13	CEBPB	chr2:34840044-34840132	A549	lung:	n/a	n/a
14	CEBPB	chr2:34907924-34908188	HepG2	liver:	n/a	chr2:34908035-34908046
15	CEBPB	chr2:34907939-34908176	A549	lung:	n/a	chr2:34908035-34908046
16	CEBPB	chr2:34850841-34851040	A549	lung:	n/a	chr2:34850939-34850950 chr2:34850903-34850914
17	CEBPB	chr2:34850814-34851079	HepG2	liver:	n/a	chr2:34850939-34850950 chr2:34850903-34850914
18	CHD1	chr2:34903650-34903710	GM12878	blood:	n/a	n/a
19	CHD1	chr2:34908873-34909006	GM12878	blood:	n/a	n/a
20	CHD1	chr2:34902538-34902913	GM12878	blood:	n/a	n/a
21	CHD1	chr2:34904395-34904596	GM12878	blood:	n/a	n/a
22	CHD1	chr2:34913646-34913857	GM12878	blood:	n/a	n/a
23	CHD2	chr2:34826745-34826921	GM12878	blood:	n/a	n/a
24	CHD2	chr2:34881819-34881970	GM12878	blood:	n/a	n/a
25	CHD2	chr2:34827312-34827671	GM12878	blood:	n/a	n/a
26	CHD2	chr2:34902764-34902800	GM12878	blood:	n/a	n/a
27	CHD2	chr2:34914407-34914412	GM12878	blood:	n/a	n/a
28	CHD2	chr2:34902278-34902563	GM12878	blood:	n/a	n/a
29	CTCF	chr2:34913726-34913926	GM12878	blood:	n/a	n/a
30	CTCF	chr2:34930620-34930770	RPTEC	kidney:	n/a	n/a
31	CTCF	chr2:34887149-34887172	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr2:34930700-34930850	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr2:34862158-34862234	GM20000	blood:	n/a	n/a
34	CTCF	chr2:34814440-34814590	GM12864	blood:	n/a	n/a
35	CTCF	chr2:34828817-34828931	GM13976	blood:	n/a	n/a
36	CUX1	chr2:34827251-34827473	GM12878	blood:	n/a	n/a
37	CUX1	chr2:34904482-34904543	GM12878	blood:	n/a	n/a
38	CUX1	chr2:34902439-34902593	GM12878	blood:	n/a	n/a
39	CUX1	chr2:34826633-34826770	GM12878	blood:	n/a	n/a
40	CUX1	chr2:34930516-34930874	GM12878	blood:	n/a	chr2:34930744-34930758
41	CUX1	chr2:34910823-34910857	GM12878	blood:	n/a	n/a
42	CUX1	chr2:34846468-34846579	GM12878	blood:	n/a	n/a
43	E2F4	chr2:34913168-34913330	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr2:34882893-34883222	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr2:34877680-34877938	MCF10A-Er-Src	breast:	n/a	n/a
46	EBF1	chr2:34931253-34931453	GM12878	blood:	n/a	chr2:34931362-34931373 chr2:34931364-34931373
47	EBF1	chr2:34902926-34903216	GM12878	blood:	n/a	n/a
48	EBF1	chr2:34902218-34902596	GM12878	blood:	n/a	n/a
49	EBF1	chr2:34907924-34907990	GM12878	blood:	n/a	n/a
50	EBF1	chr2:34881727-34882043	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34852273-34852323	HNPCEpiC	eye:	n/a
2	chr2:34902113-34902163	MCF10A-Er-Src	breast:	n/a
3	chr2:34902113-34902163	SK-N-SH	brain:	n/a
4	chr2:34902113-34902163	NH-A	brain:	n/a
5	chr2:34852273-34852323	GM12878	blood:	n/a
6	chr2:34902113-34902163	AG04450	lung:	fetal
7	chr2:34852273-34852323	ovcar-3	ovarian:	n/a
8	chr2:34852273-34852323	HCPEpiC	choroid plexus:	n/a
9	chr2:34902113-34902163	ovcar-3	ovarian:	n/a
10	chr2:34852273-34852323	BE2_C	brain:	n/a
11	chr2:34852273-34852323	HL-60	blood:	n/a
12	chr2:34852273-34852323	ProgFib	skin:	n/a
13	chr2:34902113-34902163	HEK293	kidney:	embryo
14	chr2:34902113-34902163	HRPEpiC	eye:	n/a
15	chr2:34902113-34902163	U87	brain:	n/a
16	chr2:34852273-34852323	GM12892	blood:	n/a
17	chr2:34902113-34902163	GM12891	blood:	n/a
18	chr2:34902113-34902163	AoSMC	blood vessel:	n/a
19	chr2:34852273-34852323	Hela-S3	cervix:	n/a
20	chr2:34852273-34852323	NHBE	bronchial:	n/a
21	chr2:34852273-34852323	AG04450	lung:	fetal
22	chr2:34852273-34852323	AG09319	gingival:	n/a
23	chr2:34902113-34902163	Caco-2	colon:	n/a
24	chr2:34902113-34902163	MCF-7	breast:	n/a
25	chr2:34902113-34902163	HL-60	blood:	n/a
26	chr2:34902113-34902163	H1-hESC	embryonic stem cell:	embryo
27	chr2:34902113-34902163	HIPEpiC	eye:	n/a
28	chr2:34852273-34852323	U87	brain:	n/a
29	chr2:34902113-34902163	HAEpiC	amniotic membrane:	n/a
30	chr2:34852273-34852323	H1-hESC	embryonic stem cell:	embryo
31	chr2:34852273-34852323	A549	lung:	n/a
32	chr2:34902113-34902163	GM06990	blood:	n/a
33	chr2:34902113-34902163	HRE	kidney:	n/a
34	chr2:34852273-34852323	PFSK-1	brain:	n/a
35	chr2:34852273-34852323	NB4	blood:	n/a
36	chr2:34902113-34902163	AG04449	skin:	fetal
37	chr2:34902113-34902163	SKMC	muscle:	n/a
38	chr2:34852273-34852323	HepG2	liver:	n/a
39	chr2:34852273-34852323	HRCEpiC	kidney:	n/a
40	chr2:34902113-34902163	HRCEpiC	kidney:	n/a
41	chr2:34902113-34902163	HEEpiC	esophagus:	n/a
42	chr2:34902113-34902163	Hela-S3	cervix:	n/a
43	chr2:34852273-34852323	PrEC	prostate:	n/a
44	chr2:34902113-34902163	CMK	blood:	n/a
45	chr2:34852273-34852323	ECC-1	luminal epithelium:	n/a
46	chr2:34902113-34902163	BJ	skin:	n/a
47	chr2:34852273-34852323	AoSMC	blood vessel:	n/a
48	chr2:34852273-34852323	GM06990	blood:	n/a
49	chr2:34852273-34852323	K562	blood:	n/a
50	chr2:34852273-34852323	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
2	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
3	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
2	lnc-RASGRP3-4	chr2:34902711-34902994	NONHSAT070044
3	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
4	lnc-FAM98A-8	chr2:34917357-34917552	ENSG00000272027.1
5	lnc-FAM98A-8	chr2:34919267-34919365	ENSG00000272027.1
6	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
7	lnc-RASGRP3-15	chr2:34909934-34910063	NONHSAT070041
8	lnc-RASGRP3-14	chr2:34815937-34816109	l_1807_chr2:34789043-34803561_liver
9	lnc-RASGRP3-15	chr2:34878421-34878470	NONHSAT070041
10	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785

No data

Variant related genes	Relation type
ENSG00000272027	TF binding region
ENSG00000228262	TF binding region
ENSG00000272027	CpG island
ENSG00000228262	CpG island
ENSG00000228262	chromatin interactions

Extended variants
information (count: 1629 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112047010	chr2:34815896-34815897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs573721505	chr2:34815897-34815898	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs549592309	chr2:34815920-34815921	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs571270892	chr2:34815921-34815922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186535637	chr2:34815927-34815928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs190079353	chr2:34815943-34815944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548164345	chr2:34815968-34815969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs148489176	chr2:34815980-34815981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564734424	chr2:34816009-34816010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533338953	chr2:34816034-34816035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs182386732	chr2:34816060-34816061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs187364949	chr2:34816137-34816138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529255694	chr2:34816212-34816213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs548940394	chr2:34816231-34816232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs144082672	chr2:34816235-34816236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551562980	chr2:34816254-34816255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs190382292	chr2:34816335-34816336	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs573455199	chr2:34816351-34816352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533739144	chr2:34816357-34816358	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs146490679	chr2:34816371-34816372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531346614	chr2:34816396-34816397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374681768	chr2:34816403-34816404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs140575006	chr2:34816405-34816406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs145697042	chr2:34816409-34816410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs556161426	chr2:34816415-34816416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs570165383	chr2:34816432-34816433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs151076176	chr2:34816439-34816440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs545113432	chr2:34816474-34816475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs564824273	chr2:34816489-34816490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs578153181	chr2:34816496-34816497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201040564	chr2:34816497-34816498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs377598254	chr2:34816499-34816500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs397869890	chr2:34816501-34816502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs36035073	chr2:34816506-34816507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs540382643	chr2:34816545-34816546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs574920793	chr2:34816559-34816560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs369768932	chr2:34816590-34816591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs529513337	chr2:34816619-34816620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs140932242	chr2:34816624-34816625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs150202824	chr2:34816643-34816644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs368113752	chr2:34816658-34816659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs183937042	chr2:34816663-34816664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs372748096	chr2:34816698-34816699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551893547	chr2:34816703-34816704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs113323240	chr2:34816705-34816706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs538249486	chr2:34816744-34816745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs368919914	chr2:34816752-34816753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567581436	chr2:34816768-34816769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs575726031	chr2:34816796-34816797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs556473229	chr2:34816797-34816798	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34829200-34829600	Enhancers	Brain Germinal Matrix	brain
2	chr2:34829400-34829600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34842200-34842800	Enhancers	Fetal Lung	lung
4	chr2:34860400-34861000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:34875600-34875800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:34881800-34882600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:34884400-34890200	Weak transcription	Right Atrium	heart
8	chr2:34885200-34885600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:34885800-34886200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:34885800-34886200	Enhancers	Fetal Lung	lung
11	chr2:34889000-34890600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:34890600-34892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:34891600-34892400	Enhancers	Brain Germinal Matrix	brain
14	chr2:34892000-34892200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:34892200-34892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:34892600-34893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:34895400-34895600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34901600-34902400	Enhancers	Liver	Liver
19	chr2:34902400-34902600	Flanking Active TSS	Liver	Liver
20	chr2:34902600-34903000	Enhancers	Pancreas	Pancrea
21	chr2:34902600-34903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:34902600-34904400	Active TSS	Liver	Liver
23	chr2:34903000-34904200	Active TSS	Fetal Kidney	kidney
24	chr2:34908800-34909400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:34919400-34919600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:34919600-34926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:34926000-34926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:34926000-34926400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:34926200-34926600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:34926400-34927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:34926600-34927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:34927800-34928200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:34927800-34928200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:34927800-34928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:34927800-34928400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:34927800-34928400	Enhancers	Pancreas	Pancrea
38	chr2:34928000-34928800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:34928200-34929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:34928200-34929400	Enhancers	Liver	Liver
41	chr2:34929200-34931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:34929400-34930400	Weak transcription	Liver	Liver
43	chr2:34930400-34930800	Active TSS	Liver	Liver
44	chr2:34930800-34931400	Flanking Active TSS	Liver	Liver
45	chr2:34931000-34931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:34931400-34931800	Enhancers	Liver	Liver
47	chr2:34931800-34932200	Weak transcription	Liver	Liver

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