Variant report

Variant	nsv581374
Chromosome Location	chr2:34902177-34942918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:34902925-34903229	GM12878	blood:	n/a	n/a
2	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
3	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
7	CEBPB	chr2:34931219-34931422	HepG2	liver:	n/a	chr2:34931302-34931313
8	CEBPB	chr2:34907939-34908176	A549	lung:	n/a	chr2:34908035-34908046
9	CEBPB	chr2:34907924-34908188	HepG2	liver:	n/a	chr2:34908035-34908046
10	CHD1	chr2:34913646-34913857	GM12878	blood:	n/a	n/a
11	CHD1	chr2:34902538-34902913	GM12878	blood:	n/a	n/a
12	CHD1	chr2:34904395-34904596	GM12878	blood:	n/a	n/a
13	CHD1	chr2:34908873-34909006	GM12878	blood:	n/a	n/a
14	CHD1	chr2:34903650-34903710	GM12878	blood:	n/a	n/a
15	CHD2	chr2:34902278-34902563	GM12878	blood:	n/a	n/a
16	CHD2	chr2:34902764-34902800	GM12878	blood:	n/a	n/a
17	CHD2	chr2:34914407-34914412	GM12878	blood:	n/a	n/a
18	CTCF	chr2:34930620-34930770	RPTEC	kidney:	n/a	n/a
19	CTCF	chr2:34913726-34913926	GM12878	blood:	n/a	n/a
20	CTCF	chr2:34933260-34933330	GM10266	blood:	n/a	n/a
21	CTCF	chr2:34930700-34930850	Hela-S3	cervix:	n/a	n/a
22	CUX1	chr2:34930516-34930874	GM12878	blood:	n/a	chr2:34930744-34930758
23	CUX1	chr2:34902439-34902593	GM12878	blood:	n/a	n/a
24	CUX1	chr2:34910823-34910857	GM12878	blood:	n/a	n/a
25	CUX1	chr2:34904482-34904543	GM12878	blood:	n/a	n/a
26	E2F4	chr2:34913168-34913330	MCF10A-Er-Src	breast:	n/a	n/a
27	EBF1	chr2:34931253-34931453	GM12878	blood:	n/a	chr2:34931362-34931373 chr2:34931364-34931373
28	EBF1	chr2:34902849-34903229	GM12878	blood:	n/a	n/a
29	EBF1	chr2:34907924-34907990	GM12878	blood:	n/a	n/a
30	EBF1	chr2:34902218-34902596	GM12878	blood:	n/a	n/a
31	EBF1	chr2:34902926-34903216	GM12878	blood:	n/a	n/a
32	EP300	chr2:34902166-34902728	GM12878	blood:	n/a	n/a
33	EP300	chr2:34905033-34905209	GM12878	blood:	n/a	n/a
34	EP300	chr2:34931146-34931164	GM12878	blood:	n/a	n/a
35	EP300	chr2:34902231-34902712	GM12878	blood:	n/a	n/a
36	EP300	chr2:34931146-34931192	GM12878	blood:	n/a	n/a
37	EP300	chr2:34902200-34902707	GM12878	blood:	n/a	n/a
38	EP300	chr2:34905075-34905108	GM12878	blood:	n/a	n/a
39	EP300	chr2:34930796-34930939	GM12878	blood:	n/a	n/a
40	EP300	chr2:34930730-34930913	GM12878	blood:	n/a	n/a
41	GATA3	chr2:34908950-34909193	SH-SY5Y	brain:	n/a	n/a
42	HEY1	chr2:34902834-34903060	HepG2	liver:	n/a	n/a
43	IRF4	chr2:34902848-34903243	GM12878	blood:	n/a	n/a
44	IRF4	chr2:34902809-34903238	GM12878	blood:	n/a	n/a
45	MAX	chr2:34914560-34914658	NB4	blood:	n/a	n/a
46	MAX	chr2:34902523-34902709	GM12878	blood:	n/a	n/a
47	MAX	chr2:34924385-34924462	NB4	blood:	n/a	chr2:34924443-34924453
48	MAX	chr2:34931167-34931205	GM12878	blood:	n/a	n/a
49	MXI1	chr2:34913666-34914039	GM12878	blood:	n/a	chr2:34913841-34913850
50	MXI1	chr2:34902255-34902883	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
2	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
2	lnc-RASGRP3-4	chr2:34935519-34935580	ENSG00000228262.4
3	lnc-RASGRP3-4	chr2:34902711-34902994	NONHSAT070044
4	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
5	lnc-RASGRP3-4	chr2:34935519-34935571	NONHSAT070044
6	lnc-FAM98A-8	chr2:34919267-34919365	ENSG00000272027.1
7	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
8	lnc-RASGRP3-15	chr2:34909934-34910063	NONHSAT070041
9	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262.4
10	lnc-RASGRP3-4	chr2:34935518-34935580	NONHSAT070045
11	lnc-RASGRP3-4	chr2:34938646-34938840	NONHSAT070045
12	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
13	lnc-FAM98A-8	chr2:34917357-34917552	ENSG00000272027.1

No data

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

Extended variants
information (count: 1440 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1440 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7575839	chr2:34902177-34902178	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111352817	chr2:34902183-34902184	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527940222	chr2:34902205-34902206	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552146517	chr2:34902218-34902219	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547817911	chr2:34902243-34902244	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182209862	chr2:34902299-34902300	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530261852	chr2:34902306-34902307	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187754985	chr2:34902310-34902311	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs71449527	chr2:34902320-34902321	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373408390	chr2:34902324-34902325	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569777085	chr2:34902325-34902326	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs369698032	chr2:34902359-34902360	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538847255	chr2:34902381-34902382	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558430692	chr2:34902396-34902397	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565972042	chr2:34902430-34902431	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562498189	chr2:34902438-34902439	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570715731	chr2:34902439-34902440	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554190247	chr2:34902449-34902450	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12468850	chr2:34902453-34902454	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs142583982	chr2:34902504-34902505	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552989286	chr2:34902515-34902516	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557041285	chr2:34902520-34902521	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200859145	chr2:34902523-34902524	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs192738219	chr2:34902530-34902531	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576831378	chr2:34902590-34902591	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545593871	chr2:34902622-34902623	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565291982	chr2:34902636-34902637	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111675561	chr2:34902641-34902642	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573167834	chr2:34902652-34902653	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371162729	chr2:34902664-34902665	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561303361	chr2:34902675-34902676	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150108465	chr2:34902714-34902715	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112422516	chr2:34902718-34902719	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563818761	chr2:34902744-34902745	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs532458865	chr2:34902747-34902748	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs375052415	chr2:34902748-34902749	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552350724	chr2:34902749-34902750	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs565732693	chr2:34902754-34902755	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557593335	chr2:34902777-34902778	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs548058394	chr2:34902821-34902822	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs567986657	chr2:34902822-34902823	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs7603264	chr2:34902885-34902886	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs149235657	chr2:34902889-34902890	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184828363	chr2:34902894-34902895	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs368389539	chr2:34902898-34902899	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540511768	chr2:34902899-34902900	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560621059	chr2:34902908-34902909	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs541776617	chr2:34902911-34902912	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs386644713	chr2:34902924-34902925	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs6755320	chr2:34902925-34902926	Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34901600-34902400	Enhancers	Liver	Liver
2	chr2:34902400-34902600	Flanking Active TSS	Liver	Liver
3	chr2:34902600-34903000	Enhancers	Pancreas	Pancrea
4	chr2:34902600-34903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:34902600-34904400	Active TSS	Liver	Liver
6	chr2:34903000-34904200	Active TSS	Fetal Kidney	kidney
7	chr2:34908800-34909400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:34919400-34919600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:34919600-34926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:34926000-34926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:34926000-34926400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:34926200-34926600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:34926400-34927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:34926600-34927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:34927800-34928200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:34927800-34928200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:34927800-34928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:34927800-34928400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:34927800-34928400	Enhancers	Pancreas	Pancrea
21	chr2:34928000-34928800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:34928200-34929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:34928200-34929400	Enhancers	Liver	Liver
24	chr2:34929200-34931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:34929400-34930400	Weak transcription	Liver	Liver
26	chr2:34930400-34930800	Active TSS	Liver	Liver
27	chr2:34930800-34931400	Flanking Active TSS	Liver	Liver
28	chr2:34931000-34931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:34931400-34931800	Enhancers	Liver	Liver
30	chr2:34931800-34932200	Weak transcription	Liver	Liver
31	chr2:34932200-34932400	Enhancers	Liver	Liver
32	chr2:34932400-34939000	Weak transcription	Liver	Liver
33	chr2:34939000-34939800	Strong transcription	Liver	Liver
34	chr2:34939800-34952800	Weak transcription	Liver	Liver
35	chr2:34941000-34942400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:34942400-34945400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:34942600-34944400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:34942800-34943600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:34942800-34944400	Enhancers	HUES48 Cell Line	embryonic stem cell

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