Variant report

Variant	nsv1008175
Chromosome Location	chr2:184731272-184794825
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	ATF2	chr2:184777412-184777774	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:184762457-184762540	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:184790001-184790396	K562	blood:	n/a	chr2:184790196-184790207
4	CEBPB	chr2:184784763-184785131	A549	lung:	n/a	chr2:184784940-184784951
5	CEBPB	chr2:184790019-184790389	HepG2	liver:	n/a	chr2:184790196-184790207
6	CEBPB	chr2:184790011-184790441	H1-hESC	embryonic stem cell:	n/a	chr2:184790196-184790207
7	CEBPB	chr2:184772067-184772091	HepG2	liver:	n/a	chr2:184772069-184772080
8	CEBPB	chr2:184790013-184790392	IMR90	lung:	n/a	chr2:184790196-184790207
9	CEBPB	chr2:184790019-184790366	A549	lung:	n/a	chr2:184790196-184790207
10	CEBPB	chr2:184790037-184790383	Hela-S3	cervix:	n/a	chr2:184790196-184790207
11	CEBPB	chr2:184790013-184790337	ECC-1	luminal epithelium:	n/a	chr2:184790196-184790207
12	CEBPB	chr2:184790114-184790353	A549	lung:	n/a	chr2:184790196-184790207
13	CEBPB	chr2:184776053-184776246	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:184789918-184790471	HCT-116	colon:	n/a	chr2:184790196-184790207
15	CEBPB	chr2:184790019-184790403	MCF-7	breast:	n/a	chr2:184790196-184790207
16	CEBPB	chr2:184784763-184785138	HepG2	liver:	n/a	chr2:184784940-184784951
17	CEBPB	chr2:184789961-184790387	MCF-7	breast:	n/a	chr2:184790196-184790207
18	CEBPB	chr2:184784761-184785099	IMR90	lung:	n/a	chr2:184784940-184784951
19	CEBPB	chr2:184790011-184790389	A549	lung:	n/a	chr2:184790196-184790207
20	CEBPB	chr2:184790018-184790389	ECC-1	luminal epithelium:	n/a	chr2:184790196-184790207
21	CTCF	chr2:184792339-184792432	GM13976	blood:	n/a	n/a
22	CTCF	chr2:184789085-184789143	GM20000	blood:	n/a	n/a
23	CTCF	chr2:184762660-184762810	HepG2	liver:	n/a	n/a
24	CTCF	chr2:184743632-184743695	GM13977	blood:	n/a	n/a
25	EP300	chr2:184732765-184734003	SK-N-SH	brain:	n/a	chr2:184733342-184733356 chr2:184733574-184733583
26	EP300	chr2:184732814-184733313	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr2:184791081-184792077	SK-N-SH	brain:	n/a	n/a
28	EP300	chr2:184733358-184733861	SK-N-SH_RA	brain:	n/a	chr2:184733574-184733583
29	EP300	chr2:184732875-184733340	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr2:184733402-184733772	SK-N-SH_RA	brain:	n/a	chr2:184733574-184733583
31	EP300	chr2:184769034-184769415	SK-N-SH_RA	brain:	n/a	n/a
32	FAM48A	chr2:184733503-184733686	GM12878	blood:	n/a	n/a
33	FOS	chr2:184731426-184731738	MCF10A-Er-Src	breast:	n/a	chr2:184731588-184731596 chr2:184731586-184731598 chr2:184731586-184731593
34	FOS	chr2:184763457-184763657	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:184792761-184793072	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr2:184733388-184733875	MCF10A-Er-Src	breast:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
37	FOS	chr2:184763445-184763577	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr2:184731507-184731746	MCF10A-Er-Src	breast:	n/a	chr2:184731588-184731596 chr2:184731586-184731598 chr2:184731586-184731593
39	FOS	chr2:184733392-184733834	MCF10A-Er-Src	breast:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
40	FOS	chr2:184763520-184763692	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr2:184731509-184731743	MCF10A-Er-Src	breast:	n/a	chr2:184731588-184731596 chr2:184731586-184731598 chr2:184731586-184731593
42	FOS	chr2:184792774-184793066	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:184792679-184793072	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:184733139-184733922	MCF10A-Er-Src	breast:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
45	FOS	chr2:184792731-184793072	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:184733319-184733908	MCF10A-Er-Src	breast:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
47	FOSL1	chr2:184733451-184733820	HCT-116	colon:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
48	FOSL2	chr2:184733322-184733878	SK-N-SH	brain:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
49	FOSL2	chr2:184733437-184733755	SK-N-SH	brain:	n/a	chr2:184733574-184733584 chr2:184733571-184733582 chr2:184733575-184733584 chr2:184733574-184733584
50	FOSL2	chr2:184792669-184793046	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:184740122..184742239-chr2:184746474..184748177,2	K562	blood:
2	chr2:184738935..184741579-chr2:185018317..185019872,2	K562	blood:
3	chr2:184604146..184606537-chr2:184783796..184786201,2	MCF-7	breast:
4	chr2:184730422..184731934-chr2:184734584..184736681,2	MCF-7	breast:
5	chr2:184771072..184772688-chr2:184772823..184774927,2	MCF-7	breast:
6	chr2:184740122..184742239-chr2:184746474..184748177,2	K562	blood:
7	chr2:184771072..184772688-chr2:184772823..184774927,2	MCF-7	breast:
8	chr2:184730422..184731934-chr2:184734584..184736681,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-2	chr2:184769256-184769358	XLOC_001779
2	lnc-ZNF804A-2	chr2:184769255-184769358	NONHSAT075946

Variant related genes	Relation type
ENSG00000234172	TF binding region

Extended variants
information (count: 508 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:508 , 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	rs75195977	chr2:184731301-184731302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137999750	chr2:184731329-184731330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76573103	chr2:184731343-184731344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574581188	chr2:184731362-184731363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544668439	chr2:184731464-184731465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192218557	chr2:184731496-184731497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533424814	chr2:184731542-184731543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78558481	chr2:184731607-184731608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs826168	chr2:184731634-184731635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529369879	chr2:184731638-184731639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549413283	chr2:184731640-184731641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149487507	chr2:184731657-184731658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs826169	chr2:184731666-184731667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs5836890	chr2:184731688-184731689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199768599	chr2:184731689-184731690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397694085	chr2:184731691-184731692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114203809	chr2:184731708-184731709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184241651	chr2:184731840-184731841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76518492	chr2:184731851-184731852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529436725	chr2:184731876-184731877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187818666	chr2:184731929-184731930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143933320	chr2:184731942-184731943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs826170	chr2:184731952-184731953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542753241	chr2:184731971-184731972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553071583	chr2:184732036-184732037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572847941	chr2:184732040-184732041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192346862	chr2:184732057-184732058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184498763	chr2:184732064-184732065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563794321	chr2:184732082-184732083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543681121	chr2:184732146-184732147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75001951	chr2:184732174-184732175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs826171	chr2:184732178-184732179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549304563	chr2:184732197-184732198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189367789	chr2:184732250-184732251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531155906	chr2:184732259-184732260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573435627	chr2:184732332-184732333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551764644	chr2:184732390-184732391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571597537	chr2:184732411-184732412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571639174	chr2:184732462-184732463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115953949	chr2:184732523-184732524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180849559	chr2:184732531-184732532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140507600	chr2:184732551-184732552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562217322	chr2:184732583-184732584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs826172	chr2:184732591-184732592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552870149	chr2:184732607-184732608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116845012	chr2:184732635-184732636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150708448	chr2:184732707-184732708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184904835	chr2:184732709-184732710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558546893	chr2:184732727-184732728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188580818	chr2:184732730-184732731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184731200-184734600	Enhancers	NHEK	skin
2	chr2:184731400-184731600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:184731800-184733000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:184732800-184733400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:184732800-184733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:184732800-184733400	Enhancers	Hela-S3	cervix
7	chr2:184732800-184733800	Enhancers	HMEC	breast
8	chr2:184733000-184733400	Enhancers	NH-A	brain
9	chr2:184733000-184734200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:184733400-184734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:184733800-184734200	Weak transcription	HMEC	breast
12	chr2:184734200-184734600	Enhancers	HMEC	breast
13	chr2:184734400-184734600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:184756800-184757800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:184762400-184762800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:184763200-184763600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:184763400-184763800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:184763400-184763800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:184766600-184767000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:184766600-184767000	Enhancers	Gastric	stomach
21	chr2:184784800-184788000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:184791400-184791600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:184791400-184793200	Enhancers	Adipose Nuclei	Adipose
24	chr2:184791600-184791800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:184791800-184792200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:184791800-184793000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:184792400-184792800	Enhancers	NH-A	brain
28	chr2:184792400-184793600	Enhancers	Fetal Lung	lung
29	chr2:184792600-184793000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:184792800-184793000	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:184794400-184795000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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