Variant report

Variant	esv3440402
Chromosome Location	chr2:49142113-49145161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:49142476-49142668	MCF-7	breast:	n/a	n/a
2	CTCF	chr2:49142483-49142681	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:49142458-49142659	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:49142500-49142650	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:49142468-49142641	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:49142543-49142628	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:49142501-49142613	A549	lung:	n/a	n/a
8	CTCF	chr2:49142476-49142646	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:49142648-49142736	Spleen_OC	spleen:	n/a	n/a
10	MXI1	chr2:49143370-49143379	HepG2	liver:	n/a	n/a
11	MYC	chr2:49143172-49143309	MCF-7	breast:	n/a	n/a
12	MYC	chr2:49143309-49143325	MCF-7	breast:	n/a	n/a
13	MYC	chr2:49142464-49142611	MCF-7	breast:	n/a	n/a
14	MYC	chr2:49143327-49143411	MCF-7	breast:	n/a	n/a
15	MYC	chr2:49142466-49142598	MCF-7	breast:	n/a	n/a
16	POLR2A	chr2:49143353-49143375	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:49143413-49143425	A549	lung:	n/a	n/a
18	POLR2A	chr2:49143443-49143450	A549	lung:	n/a	n/a
19	POLR2A	chr2:49143348-49143383	A549	lung:	n/a	n/a
20	POLR2A	chr2:49143531-49143569	A549	lung:	n/a	n/a
21	POLR2A	chr2:49143153-49143688	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:49143227-49143349	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:49143623-49143662	A549	lung:	n/a	n/a
24	ZNF143	chr2:49142513-49142581	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF263	chr2:49142321-49142823	HEK293-T-REx	kidney:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:49143534-49143584	GM06990	blood:	n/a
2	chr2:49143534-49143584	GM06990	blood:	n/a
3	chr2:49143238-49143288	HEK293	kidney:	embryo
4	chr2:49143238-49143288	HCT-116	colon:	n/a
5	chr2:49143334-49143384	HepG2	liver:	n/a
6	chr2:49143534-49143584	ovcar-3	ovarian:	n/a
7	chr2:49143238-49143288	HRE	kidney:	n/a
8	chr2:49143334-49143384	Caco-2	colon:	n/a
9	chr2:49143534-49143584	RPTEC	kidney:	n/a
10	chr2:49143334-49143384	GM12892	blood:	n/a
11	chr2:49143534-49143584	BE2_C	brain:	n/a
12	chr2:49143238-49143288	PFSK-1	brain:	n/a
13	chr2:49143334-49143384	CMK	blood:	n/a
14	chr2:49143534-49143584	SK-N-SH	brain:	n/a
15	chr2:49143334-49143384	AG04450	lung:	fetal
16	chr2:49143238-49143288	AG09319	gingival:	n/a
17	chr2:49143534-49143584	HAEpiC	amniotic membrane:	n/a
18	chr2:49143334-49143384	NHDF-neo	bronchial:	n/a
19	chr2:49143534-49143584	HRE	kidney:	n/a
20	chr2:49143334-49143384	HNPCEpiC	eye:	n/a
21	chr2:49143534-49143584	SKMC	muscle:	n/a
22	chr2:49143534-49143584	MCF-7	breast:	n/a
23	chr2:49143534-49143584	AG04450	lung:	fetal
24	chr2:49143534-49143584	HNPCEpiC	eye:	n/a
25	chr2:49143238-49143288	K562	blood:	n/a
26	chr2:49143534-49143584	PFSK-1	brain:	n/a
27	chr2:49143334-49143384	SK-N-MC	brain:	n/a
28	chr2:49143238-49143288	GM12892	blood:	n/a
29	chr2:49143238-49143288	HNPCEpiC	eye:	n/a
30	chr2:49143334-49143384	MCF10A-Er-Src	breast:	n/a
31	chr2:49143334-49143384	AG09319	gingival:	n/a
32	chr2:49143534-49143584	HEEpiC	esophagus:	n/a
33	chr2:49143238-49143288	ovcar-3	ovarian:	n/a
34	chr2:49143238-49143288	BE2_C	brain:	n/a
35	chr2:49143238-49143288	HCPEpiC	choroid plexus:	n/a
36	chr2:49143534-49143584	Hepatocyte	liver:	n/a
37	chr2:49143334-49143384	SK-N-SH	brain:	n/a
38	chr2:49143238-49143288	HRPEpiC	eye:	n/a
39	chr2:49143534-49143584	HRPEpiC	eye:	n/a
40	chr2:49143334-49143384	AG10803	skin:	n/a
41	chr2:49143534-49143584	AG09309	skin:	n/a
42	chr2:49143334-49143384	HL-60	blood:	n/a
43	chr2:49143334-49143384	NH-A	brain:	n/a
44	chr2:49143534-49143584	AG09319	gingival:	n/a
45	chr2:49143238-49143288	T-47D	breast:	n/a
46	chr2:49143534-49143584	HCPEpiC	choroid plexus:	n/a
47	chr2:49143334-49143384	PrEC	prostate:	n/a
48	chr2:49143334-49143384	HEK293	kidney:	embryo
49	chr2:49143334-49143384	GM06990	blood:	n/a
50	chr2:49143238-49143288	GM19239	blood:	n/a

No data

Variant related genes	Relation type
CTBP2P5	TF binding region
CTBP2P5	CpG island

Extended variants
information (count: 174 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs141457496	chr2:49142116-49142117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569752257	chr2:49142129-49142130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537115991	chr2:49142148-49142149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558373144	chr2:49142151-49142152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530481893	chr2:49142157-49142158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181551721	chr2:49142164-49142165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561866672	chr2:49142167-49142168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553628901	chr2:49142172-49142173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574823516	chr2:49142183-49142184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6714102	chr2:49142199-49142200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532681504	chr2:49142211-49142212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140074953	chr2:49142220-49142221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201144760	chr2:49142246-49142247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531029034	chr2:49142252-49142253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147289173	chr2:49142264-49142265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398104277	chr2:49142266-49142267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546230201	chr2:49142320-49142321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374769587	chr2:49142350-49142351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184650115	chr2:49142355-49142356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189168791	chr2:49142389-49142390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17038437	chr2:49142398-49142399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs367997896	chr2:49142401-49142402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559725572	chr2:49142403-49142404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1922480	chr2:49142407-49142408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144043469	chr2:49142419-49142420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569819358	chr2:49142434-49142435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537252384	chr2:49142448-49142449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182261955	chr2:49142456-49142457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187208943	chr2:49142458-49142459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534586854	chr2:49142462-49142463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552725314	chr2:49142485-49142486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574108241	chr2:49142486-49142487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376228951	chr2:49142496-49142497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79228437	chr2:49142504-49142505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368713055	chr2:49142507-49142508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546122234	chr2:49142518-49142519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564603239	chr2:49142523-49142524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528607367	chr2:49142529-49142530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35775361	chr2:49142542-49142543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79335804	chr2:49142563-49142564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147314773	chr2:49142571-49142572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535081266	chr2:49143200-49143201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550190657	chr2:49143211-49143212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529116817	chr2:49143222-49143223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539711039	chr2:49143235-49143236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574583988	chr2:49143255-49143256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17037835	chr2:49143267-49143268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190237783	chr2:49143279-49143280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534444273	chr2:49143294-49143295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373512516	chr2:49143339-49143340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49141800-49142600	Enhancers	GM12878-XiMat	blood
2	chr2:49143200-49148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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