Variant report

Variant	esv2762249
Chromosome Location	chr2:34891028-34932839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 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	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
3	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:34891473-34891834	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
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	CEBPB	chr2:34931219-34931422	HepG2	liver:	n/a	chr2:34931302-34931313
11	CHD1	chr2:34903650-34903710	GM12878	blood:	n/a	n/a
12	CHD1	chr2:34904395-34904596	GM12878	blood:	n/a	n/a
13	CHD1	chr2:34913646-34913857	GM12878	blood:	n/a	n/a
14	CHD1	chr2:34908873-34909006	GM12878	blood:	n/a	n/a
15	CHD1	chr2:34902538-34902913	GM12878	blood:	n/a	n/a
16	CHD2	chr2:34914407-34914412	GM12878	blood:	n/a	n/a
17	CHD2	chr2:34902278-34902563	GM12878	blood:	n/a	n/a
18	CHD2	chr2:34902764-34902800	GM12878	blood:	n/a	n/a
19	CTCF	chr2:34930620-34930770	RPTEC	kidney:	n/a	n/a
20	CTCF	chr2:34930700-34930850	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:34913726-34913926	GM12878	blood:	n/a	n/a
22	CUX1	chr2:34930516-34930874	GM12878	blood:	n/a	chr2:34930744-34930758
23	CUX1	chr2:34910823-34910857	GM12878	blood:	n/a	n/a
24	CUX1	chr2:34902439-34902593	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	chr2:34907924-34907990	GM12878	blood:	n/a	n/a
28	EBF1	chr2:34931253-34931453	GM12878	blood:	n/a	chr2:34931362-34931373 chr2:34931364-34931373
29	EBF1	chr2:34902218-34902596	GM12878	blood:	n/a	n/a
30	EBF1	chr2:34902926-34903216	GM12878	blood:	n/a	n/a
31	EBF1	chr2:34902849-34903229	GM12878	blood:	n/a	n/a
32	EP300	chr2:34930730-34930913	GM12878	blood:	n/a	n/a
33	EP300	chr2:34931146-34931164	GM12878	blood:	n/a	n/a
34	EP300	chr2:34905033-34905209	GM12878	blood:	n/a	n/a
35	EP300	chr2:34905075-34905108	GM12878	blood:	n/a	n/a
36	EP300	chr2:34930796-34930939	GM12878	blood:	n/a	n/a
37	EP300	chr2:34902231-34902712	GM12878	blood:	n/a	n/a
38	EP300	chr2:34931146-34931192	GM12878	blood:	n/a	n/a
39	EP300	chr2:34902200-34902707	GM12878	blood:	n/a	n/a
40	EP300	chr2:34902166-34902728	GM12878	blood:	n/a	n/a
41	FOXP2	chr2:34893412-34893619	SK-N-MC	brain:	n/a	chr2:34893433-34893445
42	GATA3	chr2:34908950-34909193	SH-SY5Y	brain:	n/a	n/a
43	HEY1	chr2:34902834-34903060	HepG2	liver:	n/a	n/a
44	IRF4	chr2:34902848-34903243	GM12878	blood:	n/a	n/a
45	IRF4	chr2:34902809-34903238	GM12878	blood:	n/a	n/a
46	JUND	chr2:34896797-34897059	HepG2	liver:	n/a	n/a
47	MAX	chr2:34924385-34924462	NB4	blood:	n/a	chr2:34924443-34924453
48	MAX	chr2:34902523-34902709	GM12878	blood:	n/a	n/a
49	MAX	chr2:34914560-34914658	NB4	blood:	n/a	n/a
50	MAX	chr2:34931167-34931205	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34902113-34902163	NHBE	bronchial:	n/a
2	chr2:34902113-34902163	SK-N-SH_RA	brain:	n/a
3	chr2:34902113-34902163	AoSMC	blood vessel:	n/a
4	chr2:34902113-34902163	Hepatocyte	liver:	n/a
5	chr2:34902113-34902163	PrEC	prostate:	n/a
6	chr2:34902113-34902163	GM06990	blood:	n/a
7	chr2:34902113-34902163	AG09309	skin:	n/a
8	chr2:34902113-34902163	HEEpiC	esophagus:	n/a
9	chr2:34902113-34902163	H1-hESC	embryonic stem cell:	embryo
10	chr2:34902113-34902163	AG10803	skin:	n/a
11	chr2:34902113-34902163	T-47D	breast:	n/a
12	chr2:34902113-34902163	CMK	blood:	n/a
13	chr2:34902113-34902163	AG09319	gingival:	n/a
14	chr2:34902113-34902163	HRE	kidney:	n/a
15	chr2:34902113-34902163	AG04450	lung:	fetal
16	chr2:34902113-34902163	NH-A	brain:	n/a
17	chr2:34902113-34902163	HL-60	blood:	n/a
18	chr2:34902113-34902163	ovcar-3	ovarian:	n/a
19	chr2:34902113-34902163	MCF10A-Er-Src	breast:	n/a
20	chr2:34902113-34902163	SK-N-MC	brain:	n/a
21	chr2:34902113-34902163	HepG2	liver:	n/a
22	chr2:34902113-34902163	HNPCEpiC	eye:	n/a
23	chr2:34902113-34902163	Jurkat	blood:	n/a
24	chr2:34902113-34902163	HPAEpiC	pulmonary alveolar:	n/a
25	chr2:34902113-34902163	ECC-1	luminal epithelium:	n/a
26	chr2:34902113-34902163	Caco-2	colon:	n/a
27	chr2:34902113-34902163	HMEC	breast:	n/a
28	chr2:34902113-34902163	NHDF-neo	bronchial:	n/a
29	chr2:34902113-34902163	K562	blood:	n/a
30	chr2:34902113-34902163	HRPEpiC	eye:	n/a
31	chr2:34902113-34902163	BE2_C	brain:	n/a
32	chr2:34902113-34902163	MCF-7	breast:	n/a
33	chr2:34902113-34902163	GM19239	blood:	n/a
34	chr2:34902113-34902163	HCF	heart:	n/a
35	chr2:34902113-34902163	SAEC	small airway:	n/a
36	chr2:34902113-34902163	HUVEC	blood vessel:	n/a
37	chr2:34902113-34902163	PFSK-1	brain:	n/a
38	chr2:34902113-34902163	HAEpiC	amniotic membrane:	n/a
39	chr2:34902113-34902163	IMR90	lung:	fetal
40	chr2:34902113-34902163	HCT-116	colon:	n/a
41	chr2:34902113-34902163	HEK293	kidney:	embryo
42	chr2:34902113-34902163	LNCaP	prostate:	n/a
43	chr2:34902113-34902163	SKMC	muscle:	n/a
44	chr2:34902113-34902163	A549	lung:	n/a
45	chr2:34902113-34902163	BJ	skin:	n/a
46	chr2:34902113-34902163	HIPEpiC	eye:	n/a
47	chr2:34902113-34902163	Hela-S3	cervix:	n/a
48	chr2:34902113-34902163	NB4	blood:	n/a
49	chr2:34902113-34902163	HRCEpiC	kidney:	n/a
50	chr2:34902113-34902163	U87	brain:	n/a

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

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

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
2	lnc-FAM98A-8	chr2:34919267-34919365	ENSG00000272027.1
3	lnc-RASGRP3-15	chr2:34909934-34910063	NONHSAT070041
4	lnc-RASGRP3-4	chr2:34902711-34902994	NONHSAT070044
5	lnc-FAM98A-8	chr2:34917357-34917552	ENSG00000272027.1

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: 1138 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549604586	chr2:34891054-34891055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569473520	chr2:34891066-34891067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185496497	chr2:34891074-34891075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538031417	chr2:34891083-34891084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558056340	chr2:34891108-34891109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558824873	chr2:34891134-34891135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377322990	chr2:34891140-34891141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111375388	chr2:34891144-34891145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79863613	chr2:34891162-34891163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559661900	chr2:34891222-34891223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571458884	chr2:34891253-34891254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145065540	chr2:34891265-34891266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530292250	chr2:34891287-34891288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76178834	chr2:34891296-34891297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543148786	chr2:34891306-34891307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556366725	chr2:34891307-34891308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375975995	chr2:34891321-34891322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189580655	chr2:34891326-34891327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545247121	chr2:34891332-34891333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565037210	chr2:34891341-34891342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527591796	chr2:34891389-34891390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541280241	chr2:34891419-34891420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560985799	chr2:34891431-34891432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148695901	chr2:34891434-34891435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73928799	chr2:34891438-34891439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs180854797	chr2:34891444-34891445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532046800	chr2:34891499-34891500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560429814	chr2:34891534-34891535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151197345	chr2:34891580-34891581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11694845	chr2:34891646-34891647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1358358	chr2:34891689-34891690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs554160940	chr2:34891774-34891775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567686324	chr2:34891792-34891793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536231565	chr2:34891799-34891800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556494723	chr2:34891800-34891801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561889147	chr2:34891825-34891826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35405682	chr2:34891828-34891829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545476682	chr2:34891878-34891879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558787629	chr2:34891908-34891909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185054762	chr2:34891976-34891977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541375192	chr2:34892037-34892038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368510864	chr2:34892053-34892054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79330584	chr2:34892056-34892057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80277654	chr2:34892058-34892059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529404267	chr2:34892067-34892068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529718877	chr2:34892090-34892091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115221764	chr2:34892122-34892123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11690237	chr2:34892149-34892150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140339609	chr2:34892161-34892162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551855795	chr2:34892164-34892165	Enhancers	n/a	n/a	Overlapped CNVs	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34890600-34892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:34891600-34892400	Enhancers	Brain Germinal Matrix	brain
3	chr2:34892000-34892200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34892200-34892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:34892600-34893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:34895400-34895600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:34901600-34902400	Enhancers	Liver	Liver
8	chr2:34902400-34902600	Flanking Active TSS	Liver	Liver
9	chr2:34902600-34903000	Enhancers	Pancreas	Pancrea
10	chr2:34902600-34903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:34902600-34904400	Active TSS	Liver	Liver
12	chr2:34903000-34904200	Active TSS	Fetal Kidney	kidney
13	chr2:34908800-34909400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:34919400-34919600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:34919600-34926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:34926000-34926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:34926000-34926400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:34926200-34926600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:34926400-34927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:34926600-34927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:34927800-34928200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:34927800-34928200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:34927800-34928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:34927800-34928400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:34927800-34928400	Enhancers	Pancreas	Pancrea
27	chr2:34928000-34928800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:34928200-34929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:34928200-34929400	Enhancers	Liver	Liver
30	chr2:34929200-34931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:34929400-34930400	Weak transcription	Liver	Liver
32	chr2:34930400-34930800	Active TSS	Liver	Liver
33	chr2:34930800-34931400	Flanking Active TSS	Liver	Liver
34	chr2:34931000-34931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:34931400-34931800	Enhancers	Liver	Liver
36	chr2:34931800-34932200	Weak transcription	Liver	Liver
37	chr2:34932200-34932400	Enhancers	Liver	Liver
38	chr2:34932400-34939000	Weak transcription	Liver	Liver

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