Variant report

Variant	nsv3139
Chromosome Location	chr2:209915318-209964719
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	chr2:209954270-209954587	K562	blood:	n/a	n/a
2	CEBPB	chr2:209935544-209935609	HepG2	liver:	n/a	chr2:209935580-209935591
3	CEBPB	chr2:209925435-209925658	A549	lung:	n/a	chr2:209925520-209925531 chr2:209925518-209925529
4	CEBPB	chr2:209955124-209955199	A549	lung:	n/a	chr2:209955162-209955175 chr2:209955162-209955173
5	CEBPB	chr2:209925339-209925581	HepG2	liver:	n/a	chr2:209925520-209925531 chr2:209925518-209925529
6	CTCF	chr2:209961998-209962181	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:209962004-209962171	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:209962016-209962180	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:209961920-209962070	GM12878	blood:	n/a	n/a
10	CTCF	chr2:209947512-209947571	GM20000	blood:	n/a	n/a
11	CTCF	chr2:209962022-209962206	K562	blood:	n/a	n/a
12	CTCF	chr2:209961993-209962181	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:209961910-209962165	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr2:209962008-209962196	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:209948063-209948098	GM20000	blood:	n/a	n/a
16	CTCF	chr2:209961354-209961432	GM13976	blood:	n/a	n/a
17	CTCF	chr2:209962080-209962230	BE2_C	brain:	n/a	n/a
18	CTCF	chr2:209962040-209962190	Caco-2	colon:	n/a	n/a
19	CTCF	chr2:209961973-209962135	GM12878	blood:	n/a	n/a
20	CTCF	chr2:209962014-209962167	MCF-7	breast:	n/a	n/a
21	CUX1	chr2:209949277-209949285	GM12878	blood:	n/a	n/a
22	CUX1	chr2:209934323-209934372	GM12878	blood:	n/a	n/a
23	E2F4	chr2:209954923-209955079	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr2:209927336-209927393	MCF10A-Er-Src	breast:	n/a	n/a
25	FAM48A	chr2:209963386-209963518	GM12878	blood:	n/a	n/a
26	FOS	chr2:209937121-209937185	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr2:209938923-209939225	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:209938977-209939102	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA2	chr2:209947965-209948384	A549	lung:	n/a	n/a
30	GATA3	chr2:209928492-209928815	SH-SY5Y	brain:	n/a	n/a
31	JUN	chr2:209941794-209942091	HepG2	liver:	n/a	chr2:209941939-209941952
32	JUN	chr2:209941082-209941103	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUN	chr2:209949952-209950123	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr2:209941858-209942047	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr2:209941010-209941155	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr2:209934693-209934760	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr2:209941789-209942124	HepG2	liver:	n/a	n/a
38	MAFF	chr2:209960569-209960782	HepG2	liver:	n/a	chr2:209960661-209960679
39	MAFF	chr2:209925102-209925330	HepG2	liver:	n/a	n/a
40	MAFK	chr2:209960574-209960817	HepG2	liver:	n/a	chr2:209960666-209960677 chr2:209960667-209960678 chr2:209960662-209960678 chr2:209960667-209960678 chr2:209960662-209960677 chr2:209960665-209960679
41	MAFK	chr2:209938821-209938962	HepG2	liver:	n/a	chr2:209938910-209938921 chr2:209938909-209938920 chr2:209938910-209938921
42	MAFK	chr2:209925097-209925318	HepG2	liver:	n/a	n/a
43	MAFK	chr2:209953491-209953738	HepG2	liver:	n/a	chr2:209953590-209953606
44	MAFK	chr2:209954303-209954533	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAFK	chr2:209960608-209960793	HepG2	liver:	n/a	chr2:209960666-209960677 chr2:209960667-209960678 chr2:209960662-209960678 chr2:209960667-209960678 chr2:209960662-209960677 chr2:209960665-209960679
46	MYC	chr2:209964300-209964323	GM12878	blood:	n/a	n/a
47	MYC	chr2:209964339-209964350	GM12878	blood:	n/a	n/a
48	MYC	chr2:209927188-209927213	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr2:209929603-209929765	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:209949763-209949767	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209911421..209913579-chr2:209913671..209915928,2	MCF-7	breast:
2	chr2:209923719..209926042-chr2:209927287..209929588,2	K562	blood:
3	chr2:209962059..209962630-chr8:88609274..88609836,2	MCF-7	breast:
4	chr2:209331311..209331890-chr2:209961645..209962198,2	MCF-7	breast:
5	chr2:209684682..209685324-chr2:209961529..209962479,2	MCF-7	breast:
6	chr2:209923719..209926042-chr2:209927287..209929588,2	K562	blood:

Variant related genes	Relation type
HSPA8P6	TF binding region
ENSG00000227430	chromatin interactions

Extended variants
information (count: 889 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377630036	chr2:209915355-209915356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572219078	chr2:209915419-209915420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569524533	chr2:209915429-209915430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12615431	chr2:209915484-209915485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575233906	chr2:209915550-209915551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190721749	chr2:209915558-209915559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565745878	chr2:209915585-209915586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183236791	chr2:209915600-209915601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534355015	chr2:209915660-209915661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139211374	chr2:209915677-209915678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72990779	chr2:209915712-209915713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537750466	chr2:209915741-209915742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77383484	chr2:209915814-209915815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72990781	chr2:209915842-209915843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543224621	chr2:209915868-209915869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141665149	chr2:209915905-209915906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58459072	chr2:209915975-209915976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76492859	chr2:209915997-209915998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565282893	chr2:209916043-209916044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546277274	chr2:209916060-209916061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530770740	chr2:209916110-209916111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543750703	chr2:209916111-209916112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139558033	chr2:209916183-209916184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111443700	chr2:209916198-209916199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529080368	chr2:209916234-209916235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192930062	chr2:209916261-209916262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35731403	chr2:209916336-209916337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565677820	chr2:209916404-209916405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184828556	chr2:209916423-209916424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551151078	chr2:209916431-209916432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571280369	chr2:209916513-209916514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537016429	chr2:209916517-209916518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571873483	chr2:209916534-209916535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574132375	chr2:209916557-209916558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564484883	chr2:209928657-209928658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533335531	chr2:209928674-209928675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192230891	chr2:209928687-209928688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544377268	chr2:209928694-209928695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569117279	chr2:209928746-209928747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372822359	chr2:209928763-209928764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548362250	chr2:209928864-209928865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568115894	chr2:209928868-209928869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13004488	chr2:209928875-209928876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533656886	chr2:209928923-209928924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183896646	chr2:209928980-209928981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188734958	chr2:209929008-209929009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376079377	chr2:209929087-209929088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539032028	chr2:209929108-209929109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180812350	chr2:209929125-209929126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562700351	chr2:209929143-209929144	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209912800-209916200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:209916200-209916600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:209928600-209929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:209929000-209929200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:209929400-209932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:209932200-209932400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:209932400-209932800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:209932400-209933000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:209932400-209933200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:209934600-209934800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:209941600-209942600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:209941800-209942400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:209942200-209942400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:209943200-209943600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:209944800-209945000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:209945200-209945400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:209945400-209949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:209945400-209949200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:209947800-209949200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:209949000-209950000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:209949200-209949600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:209949200-209950000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:209949200-209950200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:209950000-209951400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:209950000-209955600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:209950200-209955800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:209951000-209952000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:209951400-209951800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:209951400-209952200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:209951600-209952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:209952400-209953400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:209955600-209956200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:209955600-209956600	Enhancers	NHEK	skin
34	chr2:209955800-209956200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:209955800-209956200	Enhancers	Fetal Brain Female	brain
36	chr2:209958800-209959200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:209958800-209959200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:209958800-209959200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:209958800-209959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:209959000-209959200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:209959200-209962000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:209959200-209962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:209962000-209962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:209962000-209962200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:209962200-209962400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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