Variant report

Variant	esv3415791
Chromosome Location	chr2:63462580-63479116
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	ATF1	chr2:63476384-63476655	K562	blood:	n/a	n/a
2	BRCA1	chr2:63469953-63470130	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:63474401-63474477	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:63465520-63465658	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:63473896-63474078	A549	lung:	n/a	n/a
6	CREB1	chr2:63476353-63476600	GM12878	blood:	n/a	n/a
7	CTCF	chr2:63469654-63469739	MCF-7	breast:	n/a	n/a
8	GATA3	chr2:63464147-63464662	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr2:63469837-63470345	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr2:63464196-63464719	SK-N-SH	brain:	n/a	n/a
11	IRF1	chr2:63469576-63469579	K562	blood:	n/a	n/a
12	PBX3	chr2:63470262-63470465	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:63470802-63470859	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr2:63475513-63475708	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr2:63473184-63473251	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:63477532-63477568	MCF10A-Er-Src	breast:	n/a	n/a
17	POU2F2	chr2:63470306-63470580	GM12878	blood:	n/a	n/a
18	RFX5	chr2:63476297-63476692	H1-hESC	embryonic stem cell:	n/a	chr2:63476487-63476502 chr2:63476486-63476500 chr2:63476490-63476499 chr2:63476485-63476501 chr2:63476488-63476502 chr2:63476493-63476501
19	RFX5	chr2:63476261-63476723	Hela-S3	cervix:	n/a	chr2:63476487-63476502 chr2:63476486-63476500 chr2:63476490-63476499 chr2:63476485-63476501 chr2:63476488-63476502 chr2:63476493-63476501
20	RFX5	chr2:63476338-63476671	HepG2	liver:	n/a	chr2:63476487-63476502 chr2:63476486-63476500 chr2:63476490-63476499 chr2:63476485-63476501 chr2:63476488-63476502 chr2:63476493-63476501
21	RFX5	chr2:63476389-63476640	GM12878	blood:	n/a	chr2:63476487-63476502 chr2:63476486-63476500 chr2:63476490-63476499 chr2:63476485-63476501 chr2:63476488-63476502 chr2:63476493-63476501
22	RFX5	chr2:63476335-63476652	K562	blood:	n/a	chr2:63476487-63476502 chr2:63476486-63476500 chr2:63476490-63476499 chr2:63476485-63476501 chr2:63476488-63476502 chr2:63476493-63476501

No.	Distal block	Cell Line	Cell type
1	chr2:63468117..63470900-chr2:63472693..63474612,2	K562	blood:
2	chr2:63468117..63470900-chr2:63472693..63474612,2	K562	blood:
3	chr2:63473407..63475999-chr2:63481728..63484302,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233716	TF binding region

Extended variants
information (count: 501 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34384487	chr2:63463608-63463609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185775553	chr2:63463620-63463621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140894654	chr2:63463642-63463643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370939346	chr2:63463657-63463658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551334243	chr2:63463703-63463704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569452452	chr2:63463721-63463722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143319649	chr2:63463733-63463734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146659264	chr2:63463734-63463735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370450670	chr2:63463742-63463743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190190135	chr2:63463743-63463744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140254140	chr2:63463754-63463755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534775105	chr2:63463778-63463779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546591605	chr2:63463807-63463808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150474297	chr2:63463950-63463951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145420101	chr2:63463962-63463963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557028136	chr2:63463973-63463974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575305080	chr2:63463992-63463993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182826892	chr2:63464043-63464044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77682959	chr2:63464070-63464071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79559226	chr2:63464118-63464119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557482760	chr2:63464148-63464149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571195261	chr2:63464180-63464181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541580653	chr2:63464240-63464241	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559642734	chr2:63464248-63464249	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533670968	chr2:63464341-63464342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs149179870	chr2:63464348-63464349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545281428	chr2:63464471-63464472	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563389474	chr2:63464522-63464523	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530766612	chr2:63464531-63464532	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549218503	chr2:63464593-63464594	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561397693	chr2:63464611-63464612	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528295197	chr2:63464612-63464613	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546799359	chr2:63464643-63464644	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571449226	chr2:63464709-63464710	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs35801352	chr2:63464728-63464729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550894512	chr2:63464744-63464745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143348325	chr2:63464798-63464799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61271282	chr2:63464803-63464804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554383947	chr2:63464836-63464837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566535371	chr2:63464840-63464841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1829526	chr2:63464879-63464880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569468998	chr2:63464899-63464900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187904292	chr2:63464910-63464911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542412356	chr2:63464914-63464915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190597103	chr2:63464940-63464941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1850984	chr2:63464942-63464943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575563950	chr2:63464949-63464950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576269083	chr2:63464983-63464984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182844343	chr2:63465039-63465040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561102166	chr2:63465048-63465049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63463600-63476200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:63463600-63487800	Weak transcription	Left Ventricle	heart
3	chr2:63464400-63464800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:63464800-63485400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:63465800-63466200	Enhancers	HepG2	liver
6	chr2:63467800-63476400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:63468000-63474200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:63469800-63470000	Enhancers	Brain Hippocampus Middle	brain
9	chr2:63469800-63470200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:63469800-63470400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:63469800-63470600	Enhancers	Fetal Heart	heart
12	chr2:63470400-63474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:63471800-63472200	Weak transcription	Aorta	Aorta
14	chr2:63472400-63473200	Weak transcription	Aorta	Aorta
15	chr2:63473400-63474000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:63473600-63474000	ZNF genes & repeats	Aorta	Aorta
17	chr2:63474000-63474600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:63474200-63475000	Strong transcription	Primary T cells from cord blood	blood
19	chr2:63474800-63475200	Enhancers	HUVEC	blood vessel
20	chr2:63475000-63477000	Weak transcription	Primary T cells from cord blood	blood
21	chr2:63476200-63476600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr2:63476200-63477000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:63476400-63477200	Strong transcription	Adipose Nuclei	Adipose
24	chr2:63476600-63496000	Weak transcription	Primary B cells from cord blood	blood
25	chr2:63477000-63477400	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr2:63477200-63484400	Weak transcription	Adipose Nuclei	Adipose
27	chr2:63477400-63485000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:63477600-63485000	Weak transcription	Primary hematopoietic stem cells	blood

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