Variant report

Variant	esv2760746
Chromosome Location	chr3:75119190-75140739
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	FOXA1	chr3:75139029-75139244	T-47D	breast:	n/a	chr3:75139156-75139171
2	GATA3	chr3:75130203-75130322	SH-SY5Y	brain:	n/a	n/a
3	MAFF	chr3:75132043-75132364	HepG2	liver:	n/a	n/a
4	MAFF	chr3:75127476-75127776	HepG2	liver:	n/a	chr3:75127639-75127657
5	MAFF	chr3:75124438-75124651	K562	blood:	n/a	chr3:75124497-75124515
6	MAFF	chr3:75124380-75124670	HepG2	liver:	n/a	chr3:75124497-75124515
7	MAFK	chr3:75124336-75124687	IMR90	lung:	n/a	chr3:75124499-75124514
8	MAFK	chr3:75124429-75124661	H1-hESC	embryonic stem cell:	n/a	chr3:75124499-75124514
9	MAFK	chr3:75127466-75127809	HepG2	liver:	n/a	n/a
10	MAFK	chr3:75124409-75124608	K562	blood:	n/a	chr3:75124499-75124514
11	MAFK	chr3:75127501-75127795	HepG2	liver:	n/a	n/a
12	MAFK	chr3:75122701-75122774	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFK	chr3:75132105-75132301	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr3:75124362-75124656	HepG2	liver:	n/a	chr3:75124499-75124514
15	MAFK	chr3:75132016-75132353	IMR90	lung:	n/a	n/a
16	MAFK	chr3:75124346-75124689	HepG2	liver:	n/a	chr3:75124499-75124514
17	MAFK	chr3:75132016-75132374	HepG2	liver:	n/a	n/a
18	MAFK	chr3:75132016-75132358	HepG2	liver:	n/a	n/a
19	MAFK	chr3:75127505-75127783	IMR90	lung:	n/a	n/a
20	POLR2A	chr3:75122368-75122458	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:75139388-75139526	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr3:75125690-75125765	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr3:75128424-75128429	IMR90	lung:	n/a	n/a
24	STAT3	chr3:75135547-75135745	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr3:75130723-75130876	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr3:75134867-75134994	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr3:75124424-75124624	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr3:75130519-75130565	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr3:75133146-75133344	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:75126105..75128308-chr3:75131870..75133560,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRG2C-13	chr3:75133306-75134388	NONHSAT090497

Variant related genes	Relation type
NIPA2P2	TF binding region
ENSG00000241022	chromatin interactions

Extended variants
information (count: 250 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146794484	chr3:75126109-75126110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545092776	chr3:75126132-75126133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554172748	chr3:75126154-75126155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs80343465	chr3:75126176-75126177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185216437	chr3:75126236-75126237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190419367	chr3:75126248-75126249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182646480	chr3:75126257-75126258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576750038	chr3:75126277-75126278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372520069	chr3:75126303-75126304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114693524	chr3:75126306-75126307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564857279	chr3:75126316-75126317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561741724	chr3:75126321-75126322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544870207	chr3:75126350-75126351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373882760	chr3:75126352-75126353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76194256	chr3:75126358-75126359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558877057	chr3:75126375-75126376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186791965	chr3:75126389-75126390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148937187	chr3:75126420-75126421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569600974	chr3:75126432-75126433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536879489	chr3:75126465-75126466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552318085	chr3:75126520-75126521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12054432	chr3:75126522-75126523	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563921486	chr3:75126555-75126556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533678892	chr3:75126569-75126570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191637267	chr3:75126571-75126572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554209489	chr3:75126577-75126578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572518796	chr3:75126579-75126580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183964609	chr3:75126617-75126618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552962561	chr3:75126622-75126623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs151233645	chr3:75126627-75126628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115750949	chr3:75126628-75126629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543671658	chr3:75126651-75126652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565437911	chr3:75126694-75126695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576869206	chr3:75126727-75126728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146985805	chr3:75126729-75126730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572802259	chr3:75126832-75126833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111984796	chr3:75126862-75126863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11720527	chr3:75126867-75126868	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11705696	chr3:75126880-75126881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143547589	chr3:75126898-75126899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530797484	chr3:75126933-75126934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549144417	chr3:75127101-75127102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11914370	chr3:75127126-75127127	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550724153	chr3:75127145-75127146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11925039	chr3:75127164-75127165	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547951823	chr3:75127173-75127174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145896490	chr3:75127201-75127202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11925044	chr3:75127211-75127212	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554973204	chr3:75127216-75127217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576673891	chr3:75127234-75127235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75133400-75134000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:75133600-75134000	Enhancers	HMEC	breast
3	chr3:75137000-75139200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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