Variant report

Variant	esv33749
Chromosome Location	chr3:177383470-177389857
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	chr3:177389350-177389402	K562	blood:	n/a	n/a
2	CUX1	chr3:177389419-177389511	K562	blood:	n/a	n/a
3	FOXA2	chr3:177384439-177384822	A549	lung:	n/a	n/a
4	FOXA2	chr3:177384352-177384668	A549	lung:	n/a	n/a
5	GATA1	chr3:177389437-177390921	K562	blood:	n/a	chr3:177390451-177390464 chr3:177390233-177390240 chr3:177390647-177390658 chr3:177390231-177390241 chr3:177390231-177390240 chr3:177390233-177390240 chr3:177390233-177390240 chr3:177389511-177389521 chr3:177390226-177390247
6	GATA2	chr3:177389406-177389508	SH-SY5Y	brain:	n/a	n/a
7	MAX	chr3:177389228-177389693	K562	blood:	n/a	n/a
8	POLR2A	chr3:177386787-177386994	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:177386673-177387279	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:177386760-177386991	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:177383556-177383772	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:177383573-177383708	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:177388684-177388844	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:177386788-177387028	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:177383550-177383822	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr3:177383591-177383805	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:177383447-177383935	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:177381786..177384467-chr3:177540432..177542269,2	MCF-7	breast:

Variant related genes	Relation type
LINC00578	TF binding region

Extended variants
information (count: 408 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534460011	chr3:177383470-177383471	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551643139	chr3:177383564-177383565	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539487728	chr3:177383569-177383570	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147647449	chr3:177383570-177383571	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35105354	chr3:177383607-177383608	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374096594	chr3:177383609-177383610	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567315088	chr3:177383629-177383630	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114166527	chr3:177383630-177383631	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142121013	chr3:177383634-177383635	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576011327	chr3:177383701-177383702	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535536232	chr3:177383725-177383726	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555110683	chr3:177383726-177383727	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144421441	chr3:177383727-177383728	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376151105	chr3:177383734-177383735	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183278354	chr3:177383769-177383770	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147834554	chr3:177383778-177383779	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185927043	chr3:177383808-177383809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545839414	chr3:177383820-177383821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562903954	chr3:177383824-177383825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191226026	chr3:177383825-177383826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548715475	chr3:177383841-177383842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562251988	chr3:177383843-177383844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368053588	chr3:177383854-177383855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148849632	chr3:177383884-177383885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571097013	chr3:177383896-177383897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533684696	chr3:177383913-177383914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200251117	chr3:177383914-177383915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201397615	chr3:177383917-177383918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199741075	chr3:177383918-177383919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77172691	chr3:177383921-177383922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200879063	chr3:177383922-177383923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143511997	chr3:177383950-177383951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569651589	chr3:177383965-177383966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535165238	chr3:177384015-177384016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183789525	chr3:177384024-177384025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565537493	chr3:177384067-177384068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187900816	chr3:177384077-177384078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112038735	chr3:177384121-177384122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577813383	chr3:177384194-177384195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192568025	chr3:177384209-177384210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182787993	chr3:177384210-177384211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576418044	chr3:177384213-177384214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140721785	chr3:177384310-177384311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187383925	chr3:177384331-177384332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145963181	chr3:177384337-177384338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541596077	chr3:177384390-177384391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564702602	chr3:177384412-177384413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192562265	chr3:177384425-177384426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138479842	chr3:177384442-177384443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371791845	chr3:177384490-177384491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Cancer	20164920	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177382400-177385800	Weak transcription	Esophagus	oesophagus
2	chr3:177383000-177383600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:177383000-177383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:177383000-177383800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr3:177383000-177383800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:177383800-177391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:177383800-177397800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:177385800-177386200	Enhancers	Hela-S3	cervix
9	chr3:177386000-177386200	Enhancers	Esophagus	oesophagus
10	chr3:177388400-177388800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:177389000-177392400	Enhancers	K562	blood
12	chr3:177389400-177389600	Enhancers	Right Atrium	heart
13	chr3:177389600-177390400	Weak transcription	Right Atrium	heart
14	chr3:177389800-177391800	Enhancers	Fetal Intestine Large	intestine

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