Variant report

Variant	nsv522927
Chromosome Location	chr3:23023574-23026888
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	CEBPB	chr3:23024920-23024940	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr3:23024804-23025046	HepG2	liver:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
3	CEBPB	chr3:23024753-23025053	A549	lung:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
4	CEBPB	chr3:23024638-23025170	MCF-7	breast:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
5	CEBPB	chr3:23024688-23025160	Hela-S3	cervix:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
6	CEBPB	chr3:23024741-23025112	MCF-7	breast:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
7	E2F4	chr3:23023488-23023590	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr3:23024720-23025105	Hela-S3	cervix:	n/a	n/a
9	FOS	chr3:23024793-23024963	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr3:23024831-23025038	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA3	chr3:23024836-23024936	SH-SY5Y	brain:	n/a	chr3:23024874-23024890
12	GATA3	chr3:23024558-23025061	MCF-7	breast:	n/a	chr3:23024874-23024890
13	GATA3	chr3:23024584-23025079	SK-N-SH	brain:	n/a	chr3:23024874-23024890
14	GATA3	chr3:23024538-23025048	MCF-7	breast:	n/a	chr3:23024874-23024890
15	GATA3	chr3:23024733-23025078	MCF-7	breast:	n/a	chr3:23024874-23024890
16	GATA3	chr3:23024549-23025098	T-47D	breast:	n/a	chr3:23024874-23024890
17	GATA3	chr3:23024512-23025327	MCF-7	breast:	n/a	chr3:23024874-23024890
18	GATA3	chr3:23024593-23025036	T-47D	breast:	n/a	chr3:23024874-23024890
19	GATA3	chr3:23024697-23025113	SK-N-SH	brain:	n/a	chr3:23024874-23024890
20	GTF2F1	chr3:23024703-23025019	Hela-S3	cervix:	n/a	n/a
21	MAFK	chr3:23024701-23025044	Hela-S3	cervix:	n/a	n/a
22	MAX	chr3:23024691-23025089	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr3:23024770-23025104	Hela-S3	cervix:	n/a	n/a
24	MYC	chr3:23024582-23024625	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr3:23024631-23024661	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFYA	chr3:23025673-23025828	GM12878	blood:	n/a	n/a
27	RCOR1	chr3:23024686-23025060	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr3:23025610-23025638	K562	blood:	n/a	n/a
29	RFX5	chr3:23024765-23025100	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr3:23024550-23025280	MCF-7	breast:	n/a	n/a
31	SMC3	chr3:23024708-23025014	Hela-S3	cervix:	n/a	n/a
32	STAT3	chr3:23024730-23025062	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr3:23024786-23024986	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr3:23026207-23026345	MCF10A-Er-Src	breast:	n/a	n/a
35	TCF7L2	chr3:23024670-23024858	MCF-7	breast:	n/a	n/a
36	TCF7L2	chr3:23024575-23025014	Hela-S3	cervix:	n/a	n/a
37	TEAD4	chr3:23024621-23025078	MCF-7	breast:	n/a	n/a
38	USF2	chr3:23024717-23024997	Hela-S3	cervix:	n/a	n/a
39	ZNF217	chr3:23024752-23025078	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23025721..23027928-chr3:23045824..23048588,2	MCF-7	breast:

Variant related genes	Relation type
SALL4P5	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs475050	chr3:23023574-23023575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547003041	chr3:23023633-23023634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548298384	chr3:23023652-23023653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567223328	chr3:23023655-23023656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528437488	chr3:23023712-23023713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145475467	chr3:23023762-23023763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367989410	chr3:23023775-23023776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568745890	chr3:23023877-23023878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190752063	chr3:23023879-23023880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148819162	chr3:23023898-23023899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142570542	chr3:23023910-23023911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150949378	chr3:23023913-23023914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111396739	chr3:23023914-23023915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572909322	chr3:23023933-23023934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561066450	chr3:23024006-23024007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182132084	chr3:23024046-23024047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554972716	chr3:23024058-23024059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187189136	chr3:23024110-23024111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144550055	chr3:23024167-23024168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535689	chr3:23024216-23024217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs539218844	chr3:23024243-23024244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562342969	chr3:23024307-23024308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150908006	chr3:23024349-23024350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145914127	chr3:23024374-23024375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559318754	chr3:23024399-23024400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537864844	chr3:23024486-23024487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564393443	chr3:23024585-23024586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577075235	chr3:23024600-23024601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138820557	chr3:23024628-23024629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574544057	chr3:23024658-23024659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568505513	chr3:23024661-23024662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529608084	chr3:23024665-23024666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551248701	chr3:23024733-23024734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569579659	chr3:23024751-23024752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190139248	chr3:23024764-23024765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183089005	chr3:23024808-23024809	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188317710	chr3:23024809-23024810	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533923358	chr3:23024831-23024832	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539762254	chr3:23024989-23024990	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141491924	chr3:23025001-23025002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573350161	chr3:23025017-23025018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150371169	chr3:23025039-23025040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556001733	chr3:23025046-23025047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555025982	chr3:23025047-23025048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369798882	chr3:23025061-23025062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111880513	chr3:23025071-23025072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543564154	chr3:23025209-23025210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61327212	chr3:23025235-23025236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560326963	chr3:23025236-23025237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193299206	chr3:23025258-23025259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23019200-23024800	Enhancers	Fetal Heart	heart
2	chr3:23021800-23023800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:23022000-23023600	Weak transcription	Hela-S3	cervix
4	chr3:23022000-23024400	Weak transcription	Brain Germinal Matrix	brain
5	chr3:23022200-23024400	Weak transcription	Placenta	Placenta
6	chr3:23022200-23024600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:23022600-23023600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:23022800-23025000	Enhancers	HSMMtube	muscle
9	chr3:23023200-23024600	Weak transcription	Fetal Lung	lung
10	chr3:23023600-23023800	Enhancers	Hela-S3	cervix
11	chr3:23023800-23024200	Weak transcription	Hela-S3	cervix
12	chr3:23024200-23025800	Enhancers	Hela-S3	cervix
13	chr3:23024400-23024800	Enhancers	Brain Germinal Matrix	brain
14	chr3:23024400-23024800	Enhancers	Placenta	Placenta
15	chr3:23024600-23025200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:23024600-23026200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:23024800-23025000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr3:23024800-23025000	Enhancers	Fetal Lung	lung
19	chr3:23024800-23029800	Weak transcription	Fetal Heart	heart

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