Variant report

Variant	nsv460058
Chromosome Location	chr2:209755059-209866395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:344)
CpG islands
(count:62)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:209850333-209850752	K562	blood:	n/a	n/a
2	ARID3A	chr2:209794158-209795186	K562	blood:	n/a	n/a
3	ATF1	chr2:209794131-209794489	K562	blood:	n/a	n/a
4	ATF1	chr2:209850478-209850694	K562	blood:	n/a	n/a
5	ATF3	chr2:209794080-209794482	K562	blood:	n/a	n/a
6	BHLHE40	chr2:209794062-209794557	K562	blood:	n/a	n/a
7	CBX3	chr2:209794120-209794443	K562	blood:	n/a	n/a
8	CCNT2	chr2:209794180-209794575	K562	blood:	n/a	n/a
9	CCNT2	chr2:209784118-209784314	K562	blood:	n/a	n/a
10	CEBPB	chr2:209801456-209801658	HepG2	liver:	n/a	chr2:209801535-209801546 chr2:209801535-209801548 chr2:209801535-209801548
11	CEBPB	chr2:209819295-209819471	A549	lung:	n/a	n/a
12	CEBPB	chr2:209780940-209781055	A549	lung:	n/a	n/a
13	CEBPB	chr2:209840198-209840398	HepG2	liver:	n/a	chr2:209840308-209840319
14	CEBPB	chr2:209794128-209794619	MCF-7	breast:	n/a	n/a
15	CEBPB	chr2:209848087-209848667	MCF-7	breast:	n/a	n/a
16	CEBPB	chr2:209794090-209794533	HCT-116	colon:	n/a	n/a
17	CEBPB	chr2:209864598-209865094	MCF-7	breast:	n/a	chr2:209864704-209864715 chr2:209864704-209864715
18	CEBPB	chr2:209793962-209794584	HCT-116	colon:	n/a	n/a
19	CEBPB	chr2:209848245-209848598	MCF-7	breast:	n/a	n/a
20	CEBPB	chr2:209794078-209794516	MCF-7	breast:	n/a	n/a
21	CEBPB	chr2:209851799-209851995	HepG2	liver:	n/a	chr2:209851907-209851918
22	CEBPB	chr2:209794118-209794467	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:209794140-209794400	K562	blood:	n/a	n/a
24	CEBPB	chr2:209794129-209794505	K562	blood:	n/a	n/a
25	CEBPB	chr2:209794077-209794522	K562	blood:	n/a	n/a
26	CEBPB	chr2:209780201-209780442	HepG2	liver:	n/a	chr2:209780302-209780313
27	CEBPB	chr2:209864574-209864995	MCF-7	breast:	n/a	chr2:209864704-209864715 chr2:209864704-209864715
28	CEBPB	chr2:209780898-209781061	HepG2	liver:	n/a	n/a
29	CEBPD	chr2:209850457-209850711	K562	blood:	n/a	n/a
30	CEBPD	chr2:209794118-209794484	K562	blood:	n/a	n/a
31	CTCF	chr2:209768459-209768551	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:209766623-209766657	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr2:209771762-209771763	HepG2	liver:	n/a	n/a
34	CTCF	chr2:209771695-209771751	GM19240	blood:	n/a	n/a
35	CTCF	chr2:209771620-209771770	GM12875	blood:	n/a	n/a
36	CTCF	chr2:209771700-209771793	GM19239	blood:	n/a	n/a
37	CTCF	chr2:209771500-209771650	GM12873	blood:	n/a	n/a
38	CTCF	chr2:209771721-209771777	GM12878	blood:	n/a	n/a
39	CTCF	chr2:209771719-209771760	GM19238	blood:	n/a	n/a
40	CTCF	chr2:209840752-209840811	GM20000	blood:	n/a	n/a
41	CTCF	chr2:209771700-209771787	GM12892	blood:	n/a	n/a
42	CTCF	chr2:209772960-209773032	GM20000	blood:	n/a	n/a
43	CTCF	chr2:209828689-209828801	ProgFib	skin:	n/a	n/a
44	CTCF	chr2:209777689-209777747	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr2:209811640-209811790	HepG2	liver:	n/a	n/a
46	CTCF	chr2:209853540-209853690	GM12869	blood:	n/a	n/a
47	CTCF	chr2:209830240-209830390	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr2:209764691-209764756	HepG2	liver:	n/a	n/a
49	CUX1	chr2:209816166-209816206	GM12878	blood:	n/a	n/a
50	CUX1	chr2:209850481-209850812	K562	blood:	n/a	chr2:209850701-209850715

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:209854267-209854317	HEK293	kidney:	embryo
2	chr2:209854267-209854317	HEK293	kidney:	embryo
3	chr2:209854267-209854317	HCT-116	colon:	n/a
4	chr2:209854267-209854317	GM06990	blood:	n/a
5	chr2:209854267-209854317	AG09319	gingival:	n/a
6	chr2:209854267-209854317	NH-A	brain:	n/a
7	chr2:209854267-209854317	HAEpiC	amniotic membrane:	n/a
8	chr2:209854267-209854317	GM12878	blood:	n/a
9	chr2:209854267-209854317	HepG2	liver:	n/a
10	chr2:209854267-209854317	SK-N-SH	brain:	n/a
11	chr2:209854267-209854317	AG10803	skin:	n/a
12	chr2:209854267-209854317	K562	blood:	n/a
13	chr2:209854267-209854317	GM19239	blood:	n/a
14	chr2:209854267-209854317	LNCaP	prostate:	n/a
15	chr2:209854267-209854317	HNPCEpiC	eye:	n/a
16	chr2:209854267-209854317	A549	lung:	n/a
17	chr2:209854267-209854317	T-47D	breast:	n/a
18	chr2:209854267-209854317	AG09309	skin:	n/a
19	chr2:209854267-209854317	HCM	heart:	n/a
20	chr2:209854267-209854317	U87	brain:	n/a
21	chr2:209854267-209854317	Caco-2	colon:	n/a
22	chr2:209854267-209854317	ProgFib	skin:	n/a
23	chr2:209854267-209854317	ECC-1	luminal epithelium:	n/a
24	chr2:209854267-209854317	H1-hESC	embryonic stem cell:	embryo
25	chr2:209854267-209854317	CMK	blood:	n/a
26	chr2:209854267-209854317	SK-N-MC	brain:	n/a
27	chr2:209854267-209854317	PrEC	prostate:	n/a
28	chr2:209854267-209854317	HIPEpiC	eye:	n/a
29	chr2:209854267-209854317	HL-60	blood:	n/a
30	chr2:209854267-209854317	ovcar-3	ovarian:	n/a
31	chr2:209854267-209854317	HEEpiC	esophagus:	n/a
32	chr2:209854267-209854317	HUVEC	blood vessel:	n/a
33	chr2:209854267-209854317	AG04450	lung:	fetal
34	chr2:209854267-209854317	HCF	heart:	n/a
35	chr2:209854267-209854317	MCF10A-Er-Src	breast:	n/a
36	chr2:209854267-209854317	HRCEpiC	kidney:	n/a
37	chr2:209854267-209854317	HRPEpiC	eye:	n/a
38	chr2:209854267-209854317	SK-N-SH_RA	brain:	n/a
39	chr2:209854267-209854317	Hela-S3	cervix:	n/a
40	chr2:209854267-209854317	SAEC	small airway:	n/a
41	chr2:209854267-209854317	IMR90	lung:	fetal
42	chr2:209854267-209854317	BE2_C	brain:	n/a
43	chr2:209854267-209854317	NT2-D1	testis:	n/a
44	chr2:209854267-209854317	GM12892	blood:	n/a
45	chr2:209854267-209854317	GM12891	blood:	n/a
46	chr2:209854267-209854317	MCF-7	breast:	n/a
47	chr2:209854267-209854317	BJ	skin:	n/a
48	chr2:209854267-209854317	HCPEpiC	choroid plexus:	n/a
49	chr2:209854267-209854317	RPTEC	kidney:	n/a
50	chr2:209854267-209854317	NHBE	bronchial:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209781804..209784623-chr2:209788415..209790919,2	K562	blood:
2	chr2:209788994..209791751-chr2:209794523..209798556,3	K562	blood:
3	chr2:209788994..209791751-chr2:209794523..209798556,3	K562	blood:
4	chr2:209795500..209797235-chr2:209799096..209800805,2	K562	blood:
5	chr2:209812335..209815569-chr2:209817541..209819939,3	K562	blood:
6	chr2:209852263..209854117-chr2:209855293..209858192,2	K562	blood:
7	chr2:209742377..209744690-chr2:209780738..209782515,2	MCF-7	breast:
8	chr14:35871895..35874514-chr2:209813053..209815849,2	MCF-7	breast:
9	chr2:209801606..209803853-chr2:209820902..209823533,2	MCF-7	breast:
10	chr2:209812335..209815569-chr2:209817541..209819939,3	K562	blood:
11	chr2:209781804..209784623-chr2:209788415..209790919,2	K562	blood:
12	chr2:209852263..209854117-chr2:209855293..209858192,2	K562	blood:
13	chr2:209795500..209797235-chr2:209799096..209800805,2	K562	blood:
14	chr2:209735243..209737583-chr2:209791318..209793308,2	MCF-7	breast:
15	chr2:209801606..209803853-chr2:209820902..209823533,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP117	TF binding region
RNA5SP117	CpG island
ENSG00000100906	chromatin interactions

Extended variants
information (count: 1848 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1848 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2895422	chr2:209755059-209755060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2399518	chr2:209755090-209755091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570561220	chr2:209755139-209755140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550597392	chr2:209755142-209755143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116610239	chr2:209755166-209755167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562346865	chr2:209755172-209755173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529672363	chr2:209755182-209755183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10451581	chr2:209755258-209755259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566552695	chr2:209755312-209755313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185433300	chr2:209755320-209755321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555990907	chr2:209755360-209755361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145265223	chr2:209755378-209755379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534842202	chr2:209755433-209755434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557874216	chr2:209755441-209755442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147195895	chr2:209755458-209755459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535267087	chr2:209755474-209755475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543832483	chr2:209755477-209755478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546869666	chr2:209755487-209755488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557049534	chr2:209755500-209755501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573946099	chr2:209755523-209755524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541768998	chr2:209755532-209755533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561920510	chr2:209755542-209755543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527532720	chr2:209755546-209755547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191034966	chr2:209755570-209755571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554305400	chr2:209755595-209755596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549289331	chr2:209755661-209755662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182054468	chr2:209755697-209755698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2886146	chr2:209755703-209755704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371549610	chr2:209755730-209755731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533039676	chr2:209755737-209755738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549820253	chr2:209755761-209755762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111850901	chr2:209755765-209755766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373060651	chr2:209755793-209755794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556208181	chr2:209755798-209755799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377340051	chr2:209755820-209755821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538969575	chr2:209755892-209755893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569564717	chr2:209755909-209755910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528838573	chr2:209755910-209755911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368656339	chr2:209755927-209755928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554082096	chr2:209755948-209755949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549414858	chr2:209755953-209755954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2364692	chr2:209755970-209755971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549186518	chr2:209756025-209756026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534925400	chr2:209756089-209756090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557912836	chr2:209756139-209756140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571434715	chr2:209756163-209756164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537168423	chr2:209756182-209756183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79156509	chr2:209756203-209756204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573956589	chr2:209756209-209756210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536650606	chr2:209756219-209756220	Weak transcription	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209754000-209756800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:209756400-209757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:209756800-209757000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:209756800-209757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:209756800-209757600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:209756800-209757600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:209757200-209758200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:209758200-209758600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:209758200-209758600	Enhancers	Fetal Heart	heart
10	chr2:209767400-209767600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:209767600-209770200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:209770000-209770800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:209770000-209772000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:209770000-209772200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:209770200-209772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:209770800-209771000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:209770800-209771600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:209770800-209771600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:209770800-209772400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:209771000-209771200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:209771000-209771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:209771000-209772000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:209771200-209771400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:209771200-209772200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:209771400-209772000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:209772200-209772600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:209772200-209773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:209772400-209772800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:209772600-209773000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:209772800-209773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:209773200-209773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:209778400-209779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:209778600-209779000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:209792400-209793600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:209793200-209793600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:209794000-209795200	Enhancers	K562	blood
37	chr2:209796600-209810800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:209804600-209805200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:209809200-209809400	Enhancers	Colon Smooth Muscle	Colon
40	chr2:209810800-209811200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:209810800-209811200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:209810800-209811200	Enhancers	NHEK	skin
43	chr2:209811000-209811600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:209811600-209818400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:209815000-209816000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:209842800-209843000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:209843000-209853600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:209843800-209844200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:209843800-209844200	Enhancers	NHEK	skin
50	chr2:209844200-209847000	Weak transcription	NHEK	skin

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