Variant report

Variant	nsv1002788
Chromosome Location	chr2:209913805-209950811
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	CEBPB	chr2:209925435-209925658	A549	lung:	n/a	chr2:209925520-209925531 chr2:209925518-209925529
2	CEBPB	chr2:209925339-209925581	HepG2	liver:	n/a	chr2:209925520-209925531 chr2:209925518-209925529
3	CEBPB	chr2:209935544-209935609	HepG2	liver:	n/a	chr2:209935580-209935591
4	CTCF	chr2:209948063-209948098	GM20000	blood:	n/a	n/a
5	CTCF	chr2:209914500-209914650	HMEC	breast:	n/a	n/a
6	CTCF	chr2:209914500-209914650	NHEK	skin:	n/a	n/a
7	CTCF	chr2:209914480-209914630	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr2:209914560-209914710	NHEK	skin:	n/a	n/a
9	CTCF	chr2:209914440-209914590	BE2_C	brain:	n/a	n/a
10	CTCF	chr2:209947512-209947571	GM20000	blood:	n/a	n/a
11	CUX1	chr2:209934323-209934372	GM12878	blood:	n/a	n/a
12	CUX1	chr2:209949277-209949285	GM12878	blood:	n/a	n/a
13	E2F4	chr2:209927336-209927393	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:209938977-209939102	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:209938923-209939225	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:209937121-209937185	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA2	chr2:209947965-209948384	A549	lung:	n/a	n/a
18	GATA3	chr2:209928492-209928815	SH-SY5Y	brain:	n/a	n/a
19	JUN	chr2:209941794-209942091	HepG2	liver:	n/a	chr2:209941939-209941952
20	JUN	chr2:209941082-209941103	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUN	chr2:209949952-209950123	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr2:209941858-209942047	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr2:209934693-209934760	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr2:209941789-209942124	HepG2	liver:	n/a	n/a
25	JUND	chr2:209941010-209941155	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFF	chr2:209914494-209914662	HepG2	liver:	n/a	chr2:209914545-209914563 chr2:209914551-209914565
27	MAFF	chr2:209925102-209925330	HepG2	liver:	n/a	n/a
28	MAFK	chr2:209938821-209938962	HepG2	liver:	n/a	chr2:209938910-209938921 chr2:209938909-209938920 chr2:209938910-209938921
29	MAFK	chr2:209925097-209925318	HepG2	liver:	n/a	n/a
30	MAFK	chr2:209914399-209914923	HepG2	liver:	n/a	chr2:209914547-209914562 chr2:209914548-209914568 chr2:209914551-209914565 chr2:209914844-209914864 chr2:209914552-209914561
31	MAFK	chr2:209914451-209914665	H1-hESC	embryonic stem cell:	n/a	chr2:209914547-209914562 chr2:209914548-209914568 chr2:209914551-209914565 chr2:209914552-209914561
32	MAFK	chr2:209914428-209914662	HepG2	liver:	n/a	chr2:209914547-209914562 chr2:209914548-209914568 chr2:209914551-209914565 chr2:209914552-209914561
33	MYC	chr2:209929603-209929765	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr2:209927188-209927213	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:209921092-209921151	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:209914579-209914697	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:209939879-209940138	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:209926878-209927439	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr2:209926974-209927360	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr2:209948923-209949115	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:209936342-209936504	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:209920039-209920239	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr2:209920830-209921063	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:209935325-209935684	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr2:209950051-209950251	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:209942689-209942911	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:209949763-209949767	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:209934217-209934417	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:209950756-209950828	MCF10A-Er-Src	breast:	n/a	n/a
50	RAD21	chr2:209914430-209914714	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209923719..209926042-chr2:209927287..209929588,2	K562	blood:
2	chr2:209911421..209913579-chr2:209913671..209915928,2	MCF-7	breast:
3	chr2:209923719..209926042-chr2:209927287..209929588,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDH1-4	chr2:209914528-209914662	NONHSAT076653

Variant related genes	Relation type
HSPA8P6	TF binding region

Extended variants
information (count: 593 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77550474	chr2:209913809-209913810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200182660	chr2:209913831-209913832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79128135	chr2:209913832-209913833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370307906	chr2:209913853-209913854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551377322	chr2:209913868-209913869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541370576	chr2:209913939-209913940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57854859	chr2:209913944-209913945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578124923	chr2:209914006-209914007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544008339	chr2:209914117-209914118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536949605	chr2:209914217-209914218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181181430	chr2:209914247-209914248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549453883	chr2:209914277-209914278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559500774	chr2:209914302-209914303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10175863	chr2:209914305-209914306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377159119	chr2:209914361-209914362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73986695	chr2:209914371-209914372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186409307	chr2:209914496-209914497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372792963	chr2:209914509-209914510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143381198	chr2:209914535-209914536	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549554770	chr2:209914595-209914596	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569458664	chr2:209914598-209914599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs76744714	chr2:209914639-209914640	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555002838	chr2:209914645-209914646	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs190939710	chr2:209914684-209914685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374606788	chr2:209914725-209914726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113838334	chr2:209914824-209914825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369891526	chr2:209914835-209914836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558193685	chr2:209914842-209914843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16842313	chr2:209914850-209914851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111795483	chr2:209914866-209914867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557812432	chr2:209914878-209914879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563878092	chr2:209914886-209914887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539192834	chr2:209914967-209914968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66945314	chr2:209914968-209914969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536689580	chr2:209914981-209914982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182755750	chr2:209914984-209914985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146169945	chr2:209915097-209915098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74939678	chr2:209915132-209915133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187728069	chr2:209915159-209915160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552808098	chr2:209915189-209915190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551737826	chr2:209915265-209915266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116540142	chr2:209915281-209915282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377630036	chr2:209915355-209915356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572219078	chr2:209915419-209915420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569524533	chr2:209915429-209915430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12615431	chr2:209915484-209915485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575233906	chr2:209915550-209915551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190721749	chr2:209915558-209915559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565745878	chr2:209915585-209915586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183236791	chr2:209915600-209915601	Weak transcription	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:26 , 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

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