Variant report

Variant	esv3412809
Chromosome Location	chr2:209769495-209791584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:209784118-209784314	K562	blood:	n/a	n/a
2	CEBPB	chr2:209780898-209781061	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:209780201-209780442	HepG2	liver:	n/a	chr2:209780302-209780313
4	CEBPB	chr2:209780940-209781055	A549	lung:	n/a	n/a
5	CTCF	chr2:209771700-209771793	GM19239	blood:	n/a	n/a
6	CTCF	chr2:209771500-209771650	GM12873	blood:	n/a	n/a
7	CTCF	chr2:209777689-209777747	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:209771762-209771763	HepG2	liver:	n/a	n/a
9	CTCF	chr2:209771695-209771751	GM19240	blood:	n/a	n/a
10	CTCF	chr2:209771700-209771787	GM12892	blood:	n/a	n/a
11	CTCF	chr2:209771719-209771760	GM19238	blood:	n/a	n/a
12	CTCF	chr2:209771620-209771770	GM12875	blood:	n/a	n/a
13	CTCF	chr2:209772960-209773032	GM20000	blood:	n/a	n/a
14	CTCF	chr2:209771721-209771777	GM12878	blood:	n/a	n/a
15	E2F4	chr2:209772456-209772540	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr2:209775704-209775819	K562	blood:	n/a	n/a
17	JUN	chr2:209782589-209782615	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:209780776-209780863	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:209787386-209787455	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr2:209771480-209771916	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr2:209775810-209775859	K562	blood:	n/a	n/a
22	STAT3	chr2:209780422-209780569	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr2:209773791-209773970	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr2:209783929-209784129	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF12	chr2:209775744-209775923	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF12	chr2:209775740-209776063	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF7L2	chr2:209782865-209783230	HepG2	liver:	n/a	n/a
28	TEAD4	chr2:209771012-209771442	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr2:209769804-209770015	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr2:209770966-209771508	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr2:209775640-209775931	K562	blood:	n/a	n/a
32	YY1	chr2:209775833-209776081	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr2:209775862-209776100	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF384	chr2:209783788-209783873	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209735243..209737583-chr2:209791318..209793308,2	MCF-7	breast:
2	chr2:209788994..209791751-chr2:209794523..209798556,3	K562	blood:
3	chr2:209781804..209784623-chr2:209788415..209790919,2	K562	blood:
4	chr2:209781804..209784623-chr2:209788415..209790919,2	K562	blood:
5	chr2:209742377..209744690-chr2:209780738..209782515,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP117	TF binding region

Extended variants
information (count: 173 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4279066	chr2:209769512-209769513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192695112	chr2:209769515-209769516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561499302	chr2:209769517-209769518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528004373	chr2:209769573-209769574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184302152	chr2:209769578-209769579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138635531	chr2:209769589-209769590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373065545	chr2:209769590-209769591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189829152	chr2:209769615-209769616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375004679	chr2:209769623-209769624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369960243	chr2:209769629-209769630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4298021	chr2:209769639-209769640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4501077	chr2:209769654-209769655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181966572	chr2:209769662-209769663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555745150	chr2:209769674-209769675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565892873	chr2:209769688-209769689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184644565	chr2:209769691-209769692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189916492	chr2:209769720-209769721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7425375	chr2:209769745-209769746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541339203	chr2:209769847-209769848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560500964	chr2:209769890-209769891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546005735	chr2:209769894-209769895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141407244	chr2:209769906-209769907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370744661	chr2:209769917-209769918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77765010	chr2:209769943-209769944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180818873	chr2:209769982-209769983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541526136	chr2:209769995-209769996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150859316	chr2:209770002-209770003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373212284	chr2:209770012-209770013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375925667	chr2:209770070-209770071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112085795	chr2:209770116-209770117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185418419	chr2:209770165-209770166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113499820	chr2:209770184-209770185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541365436	chr2:209770229-209770230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191016899	chr2:209770243-209770244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372402529	chr2:209770264-209770265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564423341	chr2:209770265-209770266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533375470	chr2:209770309-209770310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549982394	chr2:209770314-209770315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569877593	chr2:209770320-209770321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529395009	chr2:209770369-209770370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569828056	chr2:209770389-209770390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549165324	chr2:209770412-209770413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536681718	chr2:209770421-209770422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139305119	chr2:209770477-209770478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12624051	chr2:209770561-209770562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182044833	chr2:209770594-209770595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369324928	chr2:209770600-209770601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145600333	chr2:209770616-209770617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79486087	chr2:209770630-209770631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373699542	chr2:209770644-209770645	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209767600-209770200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:209770000-209770800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:209770000-209772000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:209770000-209772200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:209770200-209772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:209770800-209771000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:209770800-209771600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:209770800-209771600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:209770800-209772400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:209771000-209771200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:209771000-209771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:209771000-209772000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:209771200-209771400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:209771200-209772200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:209771400-209772000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:209772200-209772600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:209772200-209773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:209772400-209772800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:209772600-209773000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:209772800-209773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:209773200-209773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:209778400-209779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:209778600-209779000	Enhancers	H9 Cell Line	embryonic stem cell

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