Variant report

Variant	nsv875228
Chromosome Location	chr2:141841920-141949292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:141867325-141867574	HepG2	liver:	n/a	n/a
2	ATF1	chr2:141894777-141895021	K562	blood:	n/a	n/a
3	CCNT2	chr2:141936066-141936266	K562	blood:	n/a	n/a
4	CEBPB	chr2:141851230-141851505	IMR90	lung:	n/a	chr2:141851339-141851350
5	CEBPB	chr2:141891176-141891426	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:141890457-141890532	K562	blood:	n/a	chr2:141890493-141890504
7	CEBPB	chr2:141867253-141867671	MCF-7	breast:	n/a	n/a
8	CEBPB	chr2:141898974-141899241	IMR90	lung:	n/a	chr2:141899122-141899133
9	CEBPB	chr2:141899009-141899309	HepG2	liver:	n/a	chr2:141899122-141899133
10	CEBPB	chr2:141851177-141851503	H1-hESC	embryonic stem cell:	n/a	chr2:141851339-141851350
11	CEBPB	chr2:141867275-141867610	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr2:141851303-141851461	A549	lung:	n/a	chr2:141851339-141851350
13	CEBPB	chr2:141874398-141874541	HepG2	liver:	n/a	chr2:141874494-141874505 chr2:141874413-141874425
14	CEBPB	chr2:141851225-141851396	K562	blood:	n/a	chr2:141851339-141851350
15	CEBPB	chr2:141851246-141851503	HepG2	liver:	n/a	chr2:141851339-141851350
16	CEBPB	chr2:141851293-141851482	Hela-S3	cervix:	n/a	chr2:141851339-141851350
17	CHD2	chr2:141939978-141940002	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:141867254-141867459	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr2:141867280-141867430	HPF	lung:	n/a	n/a
20	CTCF	chr2:141867303-141867432	LNCaP	prostate:	n/a	n/a
21	CTCF	chr2:141902309-141902340	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr2:141867300-141867450	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr2:141867200-141867350	GM12872	blood:	n/a	n/a
24	CTCF	chr2:141867343-141867382	ProgFib	skin:	n/a	n/a
25	CTCF	chr2:141867280-141867430	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr2:141867300-141867450	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr2:141867260-141867410	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr2:141867320-141867470	HCM	heart:	n/a	n/a
29	CTCF	chr2:141867280-141867430	HVMF	connective:	n/a	n/a
30	CTCF	chr2:141867240-141867390	Caco-2	colon:	n/a	n/a
31	CTCF	chr2:141867140-141867290	HCM	heart:	n/a	n/a
32	CTCF	chr2:141867220-141867370	Caco-2	colon:	n/a	n/a
33	CTCF	chr2:141867300-141867450	HMEC	breast:	n/a	n/a
34	CTCF	chr2:141920037-141920078	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:141867260-141867410	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr2:141867300-141867450	GM12878	blood:	n/a	n/a
37	CTCF	chr2:141867240-141867390	HCT-116	colon:	n/a	n/a
38	CTCF	chr2:141867220-141867370	GM12873	blood:	n/a	n/a
39	CTCF	chr2:141867280-141867430	GM12865	blood:	n/a	n/a
40	CTCF	chr2:141867320-141867470	AG09309	skin:	n/a	n/a
41	CTCF	chr2:141867280-141867430	BE2_C	brain:	n/a	n/a
42	CTCF	chr2:141867140-141867290	GM12871	blood:	n/a	n/a
43	CTCF	chr2:141867291-141867434	HepG2	liver:	n/a	n/a
44	CTCF	chr2:141867340-141867490	HRE	kidney:	n/a	n/a
45	CTCF	chr2:141867300-141867450	NHLF	lung:	n/a	n/a
46	CTCF	chr2:141867240-141867390	SAEC	small airway:	n/a	n/a
47	CTCF	chr2:141917521-141917570	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr2:141867300-141867450	HMF	breast:	n/a	n/a
49	CTCF	chr2:141867040-141867190	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr2:141867175-141867517	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:141868029-141868079	PANC-1	pancreas:	n/a
2	chr2:141868029-141868079	GM06990	blood:	n/a
3	chr2:141868029-141868079	HEK293	kidney:	embryo
4	chr2:141868029-141868079	GM12878	blood:	n/a
5	chr2:141868029-141868079	HCT-116	colon:	n/a
6	chr2:141868029-141868079	ovcar-3	ovarian:	n/a
7	chr2:141868029-141868079	NT2-D1	testis:	n/a
8	chr2:141868029-141868079	AG10803	skin:	n/a
9	chr2:141868029-141868079	GM12891	blood:	n/a
10	chr2:141868029-141868079	NHBE	bronchial:	n/a
11	chr2:141868029-141868079	IMR90	lung:	fetal
12	chr2:141868029-141868079	Jurkat	blood:	n/a
13	chr2:141868029-141868079	AG09319	gingival:	n/a
14	chr2:141868029-141868079	NH-A	brain:	n/a
15	chr2:141868029-141868079	BE2_C	brain:	n/a
16	chr2:141868029-141868079	RPTEC	kidney:	n/a
17	chr2:141868029-141868079	HRCEpiC	kidney:	n/a
18	chr2:141868029-141868079	PrEC	prostate:	n/a
19	chr2:141868029-141868079	Caco-2	colon:	n/a
20	chr2:141868029-141868079	HAEpiC	amniotic membrane:	n/a
21	chr2:141868029-141868079	NB4	blood:	n/a
22	chr2:141868029-141868079	PFSK-1	brain:	n/a
23	chr2:141868029-141868079	U87	brain:	n/a
24	chr2:141868029-141868079	GM12892	blood:	n/a
25	chr2:141868029-141868079	MCF10A-Er-Src	breast:	n/a
26	chr2:141868029-141868079	HEEpiC	esophagus:	n/a
27	chr2:141868029-141868079	HUVEC	blood vessel:	n/a
28	chr2:141868029-141868079	SKMC	muscle:	n/a
29	chr2:141868029-141868079	Hepatocyte	liver:	n/a
30	chr2:141868029-141868079	HCM	heart:	n/a
31	chr2:141868029-141868079	MCF-7	breast:	n/a
32	chr2:141868029-141868079	HCF	heart:	n/a
33	chr2:141868029-141868079	A549	lung:	n/a
34	chr2:141868029-141868079	AG09309	skin:	n/a
35	chr2:141868029-141868079	GM19239	blood:	n/a
36	chr2:141868029-141868079	AoSMC	blood vessel:	n/a
37	chr2:141868029-141868079	H1-hESC	embryonic stem cell:	embryo
38	chr2:141868029-141868079	AG04450	lung:	fetal
39	chr2:141868029-141868079	HMEC	breast:	n/a
40	chr2:141868029-141868079	SAEC	small airway:	n/a
41	chr2:141868029-141868079	LNCaP	prostate:	n/a
42	chr2:141868029-141868079	ProgFib	skin:	n/a
43	chr2:141868029-141868079	ECC-1	luminal epithelium:	n/a
44	chr2:141868029-141868079	Hela-S3	cervix:	n/a
45	chr2:141868029-141868079	HIPEpiC	eye:	n/a
46	chr2:141868029-141868079	HL-60	blood:	n/a
47	chr2:141868029-141868079	HepG2	liver:	n/a
48	chr2:141868029-141868079	SK-N-SH	brain:	n/a
49	chr2:141868029-141868079	K562	blood:	n/a
50	chr2:141868029-141868079	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:
2	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:
3	chr2:141929279..141931781-chr2:141938961..141941885,2	MCF-7	breast:
4	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:
5	chr2:141929279..141931781-chr2:141938961..141941885,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-904P	TF binding region
RNU6-904P	CpG island

Extended variants
information (count: 1595 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1595 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183769310	chr2:141849011-141849012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555722501	chr2:141849016-141849017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573907413	chr2:141849022-141849023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188663723	chr2:141849027-141849028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145407357	chr2:141849062-141849063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531301455	chr2:141849080-141849081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575346125	chr2:141849108-141849109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564645906	chr2:141849134-141849135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533323206	chr2:141849182-141849183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546820993	chr2:141849194-141849195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531707399	chr2:141850003-141850004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183482890	chr2:141850060-141850061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571751280	chr2:141850136-141850137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538238911	chr2:141850147-141850148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188162891	chr2:141850250-141850251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191446459	chr2:141850282-141850283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183923500	chr2:141850303-141850304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558559069	chr2:141850319-141850320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373461063	chr2:141850320-141850321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189959712	chr2:141850333-141850334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540116995	chr2:141850346-141850347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376735782	chr2:141850369-141850370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1922691	chr2:141850373-141850374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76551603	chr2:141850432-141850433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138306215	chr2:141850474-141850475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558171018	chr2:141850497-141850498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181565315	chr2:141850506-141850507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78728929	chr2:141850541-141850542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560831686	chr2:141850579-141850580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115447688	chr2:141850592-141850593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539350026	chr2:141852402-141852403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555256523	chr2:141852420-141852421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1882628	chr2:141852424-141852425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1882629	chr2:141852429-141852430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563421797	chr2:141852467-141852468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532501904	chr2:141852472-141852473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535515825	chr2:141852481-141852482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146481912	chr2:141852499-141852500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1882630	chr2:141852515-141852516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548145324	chr2:141852516-141852517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141039575	chr2:141852529-141852530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368406312	chr2:141852566-141852567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530489823	chr2:141852594-141852595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550621966	chr2:141852640-141852641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80221749	chr2:141852661-141852662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539590001	chr2:141852707-141852708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187898824	chr2:141852709-141852710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77634433	chr2:141852714-141852715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13012940	chr2:141852724-141852725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114230388	chr2:141860828-141860829	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141849000-141849200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:141849000-141849200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:141850000-141850600	Enhancers	Dnd41	blood
4	chr2:141852400-141852800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:141860800-141861200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:141860800-141861800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:141861000-141861200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:141862800-141864000	Enhancers	Dnd41	blood
9	chr2:141862800-141864200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:141862800-141864400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:141863000-141863200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:141863000-141863600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:141863000-141864400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:141863000-141864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:141863000-141864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:141863200-141866400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:141863400-141864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:141863600-141864000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:141864000-141864200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:141864000-141866800	Weak transcription	Dnd41	blood
21	chr2:141864200-141867000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:141864200-141867000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:141864400-141866800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:141864400-141871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:141864600-141867400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:141864600-141870800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:141866400-141868200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:141866800-141868600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:141866800-141869000	Enhancers	Dnd41	blood
30	chr2:141867000-141868400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:141867000-141868600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:141867200-141867400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:141867400-141867600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:141867400-141867600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:141867400-141868400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:141867600-141868000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:141867600-141871600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:141868000-141868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:141868200-141868400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:141868200-141871600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:141868400-141869800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:141868400-141870200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:141868400-141870600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:141868600-141869800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:141868600-141869800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:141868600-141869800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:141869000-141869400	ZNF genes & repeats	Dnd41	blood
48	chr2:141869800-141870000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:141869800-141870400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:141869800-141871000	Enhancers	HUES48 Cell Line	embryonic stem cell

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