Variant report

Variant	nsv875783
Chromosome Location	chr2:212530466-212564895
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	CBX3	chr2:212547269-212547727	HCT-116	colon:	n/a	n/a
2	CBX3	chr2:212549476-212549903	HCT-116	colon:	n/a	n/a
3	CEBPB	chr2:212530539-212530781	HepG2	liver:	n/a	chr2:212530643-212530654
4	CEBPB	chr2:212535291-212535822	HepG2	liver:	n/a	n/a
5	CTCF	chr2:212553127-212553176	Lung_OC	lung:	n/a	n/a
6	E2F4	chr2:212538454-212538737	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr2:212549394-212549594	HepG2	liver:	n/a	n/a
8	JUND	chr2:212549357-212549666	HepG2	liver:	n/a	chr2:212549499-212549510
9	KAP1	chr2:212549463-212549907	HEK293	kidney:	n/a	n/a
10	KAP1	chr2:212531266-212531475	K562	blood:	n/a	n/a
11	MAFF	chr2:212553787-212554014	HepG2	liver:	n/a	chr2:212553905-212553923
12	MAFF	chr2:212536745-212537040	K562	blood:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
13	MAFF	chr2:212536721-212537082	HepG2	liver:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
14	MAFK	chr2:212536719-212537087	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
15	MAFK	chr2:212536743-212537023	H1-hESC	embryonic stem cell:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
16	MAFK	chr2:212536795-212537011	K562	blood:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
17	MAFK	chr2:212536614-212537084	IMR90	lung:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
18	MAFK	chr2:212553764-212554027	HepG2	liver:	n/a	chr2:212553911-212553922 chr2:212553906-212553922 chr2:212553910-212553921 chr2:212553911-212553922 chr2:212553906-212553921
19	MAFK	chr2:212536822-212537072	Hela-S3	cervix:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
20	MAFK	chr2:212536725-212537042	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
21	MAFK	chr2:212553817-212554014	HepG2	liver:	n/a	chr2:212553911-212553922 chr2:212553906-212553922 chr2:212553910-212553921 chr2:212553911-212553922 chr2:212553906-212553921
22	POLR2A	chr2:212541157-212541167	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:212540219-212540273	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:212563849-212563996	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr2:212544767-212544967	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:212540164-212540249	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:212557313-212557875	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:212551759-212551865	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:212564715-212564943	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:212537194-212537300	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr2:212545730-212545930	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr2:212557393-212557851	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr2:212540053-212540076	MCF10A-Er-Src	breast:	n/a	n/a
34	SETDB1	chr2:212547252-212547745	U2OS	brain:	n/a	n/a
35	SETDB1	chr2:212549497-212549924	U2OS	brain:	n/a	n/a
36	SRF	chr2:212558799-212558898	HepG2	liver:	n/a	chr2:212558850-212558868
37	STAT3	chr2:212535357-212535430	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr2:212550963-212551056	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr2:212541150-212541450	HepG2	liver:	n/a	n/a
40	ZNF143	chr2:212547460-212547649	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ERBB4	TF binding region

Extended variants
information (count: 1453 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6725181	chr2:212530466-212530467	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541605571	chr2:212530512-212530513	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs72945020	chr2:212530514-212530515	Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540654758	chr2:212530546-212530547	Strong transcription Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78442800	chr2:212530607-212530608	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190130636	chr2:212530608-212530609	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561067851	chr2:212530635-212530636	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs532529160	chr2:212530645-212530646	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs546371151	chr2:212530655-212530656	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs11901111	chr2:212530681-212530682	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs182681140	chr2:212530706-212530707	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548427038	chr2:212530719-212530720	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568429807	chr2:212530835-212530836	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527707320	chr2:212530875-212530876	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72945021	chr2:212530898-212530899	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570765694	chr2:212530983-212530984	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111279171	chr2:212530993-212530994	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528323431	chr2:212531016-212531017	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567606133	chr2:212531060-212531061	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556318886	chr2:212531098-212531099	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77519074	chr2:212531128-212531129	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540456005	chr2:212531150-212531151	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536542875	chr2:212531175-212531176	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535500981	chr2:212531220-212531221	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372360383	chr2:212531241-212531242	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4672622	chr2:212531288-212531289	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs73988632	chr2:212531293-212531294	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs192126000	chr2:212531297-212531298	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555888347	chr2:212531299-212531300	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs565058651	chr2:212531320-212531321	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184067281	chr2:212531336-212531337	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs13424871	chr2:212531352-212531353	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563081944	chr2:212531357-212531358	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531826628	chr2:212531358-212531359	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188620710	chr2:212531362-212531363	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs76196820	chr2:212531370-212531371	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs141680455	chr2:212531417-212531418	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs547800144	chr2:212531527-212531528	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558199457	chr2:212531559-212531560	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529761526	chr2:212531579-212531580	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113147221	chr2:212531582-212531583	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549825543	chr2:212531588-212531589	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17413784	chr2:212531592-212531593	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535296122	chr2:212531623-212531624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192167410	chr2:212531679-212531680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149653576	chr2:212531684-212531685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146188358	chr2:212531701-212531702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182793856	chr2:212531707-212531708	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549291742	chr2:212531732-212531733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577600049	chr2:212531757-212531758	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
2	chr2:212521200-212540400	Weak transcription	Fetal Heart	heart
3	chr2:212521400-212540800	Weak transcription	Fetal Kidney	kidney
4	chr2:212522800-212537800	Weak transcription	Pancreas	Pancrea
5	chr2:212528800-212545200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:212529600-212533800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:212530000-212530600	Flanking Active TSS	Dnd41	blood
8	chr2:212530200-212546800	Weak transcription	Left Ventricle	heart
9	chr2:212530600-212531600	Enhancers	Dnd41	blood
10	chr2:212533800-212534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:212534600-212534800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:212534800-212535000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212535000-212535400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:212535000-212536600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:212536600-212537800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:212537600-212538000	Enhancers	HUVEC	blood vessel
17	chr2:212537800-212538000	ZNF genes & repeats	Pancreas	Pancrea
18	chr2:212537800-212538200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:212538000-212546800	Weak transcription	Pancreas	Pancrea
20	chr2:212538200-212543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:212538400-212538600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:212539000-212539400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:212540200-212541000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:212540800-212541000	ZNF genes & repeats	Fetal Kidney	kidney
25	chr2:212541000-212546800	Weak transcription	Fetal Kidney	kidney
26	chr2:212543400-212543800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:212543600-212544200	Enhancers	HUVEC	blood vessel
28	chr2:212543800-212544000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:212543800-212544200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:212544200-212545800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:212546200-212546600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:212546800-212547000	ZNF genes & repeats	Pancreas	Pancrea
33	chr2:212546800-212547200	ZNF genes & repeats	Aorta	Aorta
34	chr2:212546800-212547200	ZNF genes & repeats	Fetal Kidney	kidney
35	chr2:212546800-212547200	ZNF genes & repeats	Left Ventricle	heart
36	chr2:212547200-212568600	Weak transcription	Fetal Kidney	kidney
37	chr2:212549400-212549600	ZNF genes & repeats	Aorta	Aorta
38	chr2:212550000-212550400	Active TSS	Fetal Heart	heart
39	chr2:212550400-212569000	Weak transcription	Fetal Heart	heart
40	chr2:212552000-212552400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:212552400-212558400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:212553000-212553200	Enhancers	Gastric	stomach
43	chr2:212553000-212553400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:212555200-212575400	Weak transcription	Aorta	Aorta
45	chr2:212558400-212558600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:212558600-212558800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:212558800-212564000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:212564000-212564200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:212564200-212565400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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