Variant report

Variant	nsv997441
Chromosome Location	chr2:185241644-185264965
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	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
2	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
3	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
4	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
5	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
6	CTCF	chr2:185264260-185264410	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr2:185264326-185264371	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr2:185264260-185264410	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr2:185264107-185264466	HCT-116	colon:	n/a	n/a
10	CTCF	chr2:185264290-185264447	K562	blood:	n/a	n/a
11	CTCF	chr2:185264221-185264400	GM12878	blood:	n/a	n/a
12	CTCF	chr2:185258955-185259023	MCF-7	breast:	n/a	n/a
13	E2F4	chr2:185244653-185244732	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr2:185246862-185247233	MCF-7	breast:	n/a	n/a
15	GATA3	chr2:185246895-185247021	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr2:185263615-185263807	HepG2	liver:	n/a	n/a
17	JUN	chr2:185259154-185259338	K562	blood:	n/a	n/a
18	JUND	chr2:185263639-185263924	HepG2	liver:	n/a	n/a
19	MAFF	chr2:185244158-185244419	HepG2	liver:	n/a	chr2:185244246-185244264
20	MAFF	chr2:185244824-185244838	HepG2	liver:	n/a	n/a
21	MAFF	chr2:185250231-185250397	HepG2	liver:	n/a	chr2:185250250-185250268
22	MAFK	chr2:185244237-185244335	IMR90	lung:	n/a	n/a
23	MAFK	chr2:185250217-185250365	HepG2	liver:	n/a	n/a
24	MAFK	chr2:185250315-185250339	HepG2	liver:	n/a	n/a
25	MAFK	chr2:185244141-185244435	HepG2	liver:	n/a	n/a
26	MAFK	chr2:185244350-185244394	Hela-S3	cervix:	n/a	n/a
27	MYC	chr2:185243051-185243233	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:185242033-185242168	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr2:185261096-185261139	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:185245122-185245135	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:185260058-185260144	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr2:185252650-185252807	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:185260139-185260183	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr2:185264124-185264579	HCT-116	colon:	n/a	n/a
35	RAD21	chr2:185264215-185264404	SK-N-SH_RA	brain:	n/a	n/a
36	RFX5	chr2:185248218-185248328	K562	blood:	n/a	n/a
37	SRF	chr2:185259491-185260052	ECC-1	luminal epithelium:	n/a	chr2:185259680-185259693 chr2:185259677-185259695 chr2:185259679-185259694 chr2:185259677-185259691 chr2:185259682-185259691 chr2:185259681-185259692 chr2:185259678-185259695 chr2:185259675-185259692 chr2:185259680-185259693 chr2:185259682-185259693 chr2:185259681-185259695
38	STAT3	chr2:185256841-185257041	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr2:185259554-185259793	MCF10A-Er-Src	breast:	n/a	chr2:185259755-185259766
40	STAT3	chr2:185263452-185263599	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr2:185243480-185243680	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr2:185242790-185242811	MCF10A-Er-Src	breast:	n/a	n/a
43	TCF7L2	chr2:185248541-185248813	HepG2	liver:	n/a	chr2:185248714-185248730 chr2:185248714-185248730 chr2:185248717-185248726
44	TEAD4	chr2:185246959-185247354	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-3	chr2:185244856-185245013	NONHSAT075951
2	lnc-ZNF804A-3	chr2:185246875-185247280	NONHSAT075951

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ae	chr2:185243744-185243764	MIMAT0018954

Variant related genes	Relation type
MIR548AE1	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112605036	chr2:185242037-185242038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370556582	chr2:185242050-185242051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs10193703	chr2:185242099-185242100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562104559	chr2:185242100-185242101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368470633	chr2:185242120-185242121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374373531	chr2:185242797-185242798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182725847	chr2:185243065-185243066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374509700	chr2:185243098-185243099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187847057	chr2:185243131-185243132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138416105	chr2:185243132-185243133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537227372	chr2:185243157-185243158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192361225	chr2:185243173-185243174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs577114730	chr2:185243188-185243189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576393068	chr2:185243505-185243506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73035493	chr2:185243509-185243510	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547721690	chr2:185243525-185243526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566031589	chr2:185243527-185243528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555888607	chr2:185243537-185243538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs376082871	chr2:185243564-185243565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192303110	chr2:185243570-185243571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548592507	chr2:185243588-185243589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs570037089	chr2:185243648-185243649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139251966	chr2:185244889-185244890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs149390917	chr2:185244995-185244996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs530830981	chr2:185245000-185245001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552179828	chr2:185245003-185245004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs73035497	chr2:185246887-185246888	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528113469	chr2:185246891-185246892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546311419	chr2:185246913-185246914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs568135007	chr2:185246924-185246925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs535242257	chr2:185246932-185246933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs73035500	chr2:185247017-185247018	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182943234	chr2:185247056-185247057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs539313281	chr2:185247075-185247076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs557653019	chr2:185247078-185247079	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs573081936	chr2:185247125-185247126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs531710970	chr2:185247175-185247176	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs549374715	chr2:185247205-185247206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs36012782	chr2:185247257-185247258	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35492302	chr2:185251639-185251640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35515524	chr2:185251641-185251642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552353464	chr2:185251645-185251646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368031056	chr2:185251674-185251675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571031986	chr2:185251704-185251705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528743345	chr2:185251722-185251723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370580686	chr2:185251724-185251725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547292123	chr2:185251742-185251743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35943580	chr2:185251751-185251752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536236412	chr2:185251761-185251762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554645346	chr2:185251763-185251764	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185251600-185252200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:185259400-185260000	Enhancers	Liver	Liver

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