Variant report

Variant	nsv584032
Chromosome Location	chr2:188083217-188150228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:122)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:188128538-188128835	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr2:188092264-188092475	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:188089782-188090028	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:188092236-188092364	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:188128072-188128355	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:188092236-188092435	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:188128014-188128379	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr2:188107016-188107020	IMR90	lung:	n/a	n/a
9	CHD2	chr2:188089735-188090140	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr2:188089728-188090143	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:188136720-188136870	HMEC	breast:	n/a	n/a
12	CTCF	chr2:188136727-188136805	GM12878	blood:	n/a	n/a
13	CTCF	chr2:188125400-188125509	LNCaP	prostate:	n/a	n/a
14	CTCF	chr2:188136660-188136810	GM12875	blood:	n/a	n/a
15	CTCF	chr2:188136640-188136790	GM12873	blood:	n/a	n/a
16	CTCF	chr2:188136680-188136830	GM12864	blood:	n/a	n/a
17	CTCF	chr2:188143820-188143970	GM12870	blood:	n/a	n/a
18	CTCF	chr2:188136640-188136790	Caco-2	colon:	n/a	n/a
19	CTCF	chr2:188136755-188136832	HepG2	liver:	n/a	n/a
20	CTCF	chr2:188132300-188132450	GM12869	blood:	n/a	n/a
21	CTCF	chr2:188148900-188149050	K562	blood:	n/a	n/a
22	CTCF	chr2:188136700-188136850	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr2:188136750-188136786	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr2:188136740-188136890	GM06990	blood:	n/a	n/a
25	CTCF	chr2:188136680-188136830	HMEC	breast:	n/a	n/a
26	CTCF	chr2:188120802-188120876	Fibrobl	skin:	n/a	n/a
27	CTCF	chr2:188136620-188136770	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr2:188125440-188125474	Lung_OC	lung:	n/a	n/a
29	CTCF	chr2:188136657-188136930	GM12878	blood:	n/a	n/a
30	CTCF	chr2:188125483-188125545	GM10248	blood:	n/a	n/a
31	CTCF	chr2:188136723-188136797	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:188148880-188149030	GM06990	blood:	n/a	n/a
33	CTCF	chr2:188148633-188148730	GM20000	blood:	n/a	n/a
34	E2F4	chr2:188139370-188139418	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr2:188119679-188119976	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr2:188098696-188098771	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F6	chr2:188128942-188129586	H1-hESC	embryonic stem cell:	n/a	n/a
38	EBF1	chr2:188092304-188092401	GM12878	blood:	n/a	n/a
39	EP300	chr2:188094552-188095750	SK-N-SH	brain:	n/a	n/a
40	EP300	chr2:188095260-188095371	K562	blood:	n/a	n/a
41	EP300	chr2:188105862-188106132	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr2:188097549-188097900	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr2:188089651-188090070	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr2:188097512-188097801	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr2:188094841-188095487	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr2:188094787-188095483	SK-N-SH_RA	brain:	n/a	n/a
47	FAM48A	chr2:188107343-188107487	GM12878	blood:	n/a	n/a
48	FOS	chr2:188098590-188098882	HUVEC	blood vessel:	n/a	chr2:188098715-188098726
49	FOS	chr2:188098581-188098896	MCF10A-Er-Src	breast:	n/a	chr2:188098715-188098726
50	FOS	chr2:188098547-188098897	MCF10A-Er-Src	breast:	n/a	chr2:188098555-188098563 chr2:188098715-188098726

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:188093537-188093587	AG04449	skin:	fetal
2	chr2:188128809-188128859	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:188128809-188128859	AG09319	gingival:	n/a
4	chr2:188093537-188093587	NHDF-neo	bronchial:	n/a
5	chr2:188128809-188128859	AG09309	skin:	n/a
6	chr2:188128809-188128859	SK-N-SH	brain:	n/a
7	chr2:188093537-188093587	HCPEpiC	choroid plexus:	n/a
8	chr2:188128809-188128859	AoSMC	blood vessel:	n/a
9	chr2:188093537-188093587	Caco-2	colon:	n/a
10	chr2:188093537-188093587	A549	lung:	n/a
11	chr2:188128809-188128859	AG04450	lung:	fetal
12	chr2:188093537-188093587	SAEC	small airway:	n/a
13	chr2:188128809-188128859	PrEC	prostate:	n/a
14	chr2:188093537-188093587	HL-60	blood:	n/a
15	chr2:188093537-188093587	HEK293	kidney:	embryo
16	chr2:188093537-188093587	HIPEpiC	eye:	n/a
17	chr2:188093537-188093587	BJ	skin:	n/a
18	chr2:188128809-188128859	HRE	kidney:	n/a
19	chr2:188128809-188128859	ProgFib	skin:	n/a
20	chr2:188128809-188128859	Hepatocyte	liver:	n/a
21	chr2:188093537-188093587	Hepatocyte	liver:	n/a
22	chr2:188093537-188093587	ECC-1	luminal epithelium:	n/a
23	chr2:188128809-188128859	HRCEpiC	kidney:	n/a
24	chr2:188093537-188093587	SKMC	muscle:	n/a
25	chr2:188093537-188093587	HNPCEpiC	eye:	n/a
26	chr2:188128809-188128859	HRPEpiC	eye:	n/a
27	chr2:188093537-188093587	U87	brain:	n/a
28	chr2:188128809-188128859	BJ	skin:	n/a
29	chr2:188128809-188128859	HMEC	breast:	n/a
30	chr2:188128809-188128859	HL-60	blood:	n/a
31	chr2:188093537-188093587	HMEC	breast:	n/a
32	chr2:188093537-188093587	GM12891	blood:	n/a
33	chr2:188128809-188128859	AG10803	skin:	n/a
34	chr2:188128809-188128859	NHBE	bronchial:	n/a
35	chr2:188128809-188128859	HNPCEpiC	eye:	n/a
36	chr2:188128809-188128859	T-47D	breast:	n/a
37	chr2:188093537-188093587	GM12878	blood:	n/a
38	chr2:188128809-188128859	GM12878	blood:	n/a
39	chr2:188128809-188128859	HepG2	liver:	n/a
40	chr2:188093537-188093587	RPTEC	kidney:	n/a
41	chr2:188093537-188093587	CMK	blood:	n/a
42	chr2:188128809-188128859	HCPEpiC	choroid plexus:	n/a
43	chr2:188093537-188093587	GM12892	blood:	n/a
44	chr2:188093537-188093587	HAEpiC	amniotic membrane:	n/a
45	chr2:188093537-188093587	PANC-1	pancreas:	n/a
46	chr2:188093537-188093587	NB4	blood:	n/a
47	chr2:188128809-188128859	GM06990	blood:	n/a
48	chr2:188093537-188093587	ProgFib	skin:	n/a
49	chr2:188093537-188093587	HepG2	liver:	n/a
50	chr2:188093537-188093587	AG09309	skin:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188110055..188111838-chr2:188114697..188116780,2	K562	blood:
2	chr2:188082290..188085324-chr2:188088101..188090494,3	K562	blood:
3	chr2:188115424..188118005-chr2:188119188..188121188,2	MCF-7	breast:
4	chr2:188108987..188110844-chr2:188112727..188114579,2	K562	blood:
5	chr2:188081497..188084400-chr2:188085542..188087074,2	K562	blood:
6	chr2:188108987..188110844-chr2:188112727..188114579,2	K562	blood:
7	chr2:188088219..188089827-chr2:188091606..188093417,2	K562	blood:
8	chr2:188118124..188120319-chr2:188121977..188123485,2	MCF-7	breast:
9	chr2:188081497..188084400-chr2:188085542..188087074,2	K562	blood:
10	chr2:188110055..188111838-chr2:188114697..188116780,2	K562	blood:
11	chr2:188115424..188118005-chr2:188119188..188121188,2	MCF-7	breast:
12	chr2:188088219..188089827-chr2:188091606..188093417,2	K562	blood:
13	chr2:188082290..188085324-chr2:188088101..188090494,3	K562	blood:
14	chr2:188118124..188120319-chr2:188121977..188123485,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-989P	TF binding region
RNU6-989P	CpG island

Extended variants
information (count: 1035 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13411406	chr2:188083217-188083218	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540748664	chr2:188083271-188083272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562037403	chr2:188083287-188083288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538744952	chr2:188083292-188083293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7593799	chr2:188083300-188083301	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548452980	chr2:188083309-188083310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs56747411	chr2:188086017-188086018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550302464	chr2:188086028-188086029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571756820	chr2:188086034-188086035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532435208	chr2:188086046-188086047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547505487	chr2:188086096-188086097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115881357	chr2:188086118-188086119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182393878	chr2:188086119-188086120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563382570	chr2:188086154-188086155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202089928	chr2:188086155-188086156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534524808	chr2:188086165-188086166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555372008	chr2:188086179-188086180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6756991	chr2:188086244-188086245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565701270	chr2:188086278-188086279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368388929	chr2:188086280-188086281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561700383	chr2:188086303-188086304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72910633	chr2:188086333-188086334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150467288	chr2:188086336-188086337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186406794	chr2:188086339-188086340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190921309	chr2:188086370-188086371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138449963	chr2:188086393-188086394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201210261	chr2:188086437-188086438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542652182	chr2:188086465-188086466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560721799	chr2:188086491-188086492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531990875	chr2:188086506-188086507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543774135	chr2:188086507-188086508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565107264	chr2:188086524-188086525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549498386	chr2:188086568-188086569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575248772	chr2:188086593-188086594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547478541	chr2:188086615-188086616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565883041	chr2:188086625-188086626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12997447	chr2:188086705-188086706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11890941	chr2:188086730-188086731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182484946	chr2:188086740-188086741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569969692	chr2:188086775-188086776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538118239	chr2:188086780-188086781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372271967	chr2:188086785-188086786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75721146	chr2:188087202-188087203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547571222	chr2:188087213-188087214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75780715	chr2:188087232-188087233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78327090	chr2:188087256-188087257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554394260	chr2:188087259-188087260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556841256	chr2:188087282-188087283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116560719	chr2:188087349-188087350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560762503	chr2:188087405-188087406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188083200-188083400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:188086000-188086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:188087200-188089800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr2:188087600-188088800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr2:188088000-188091400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr2:188088200-188089000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr2:188088200-188092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:188088400-188091800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr2:188088800-188092200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:188089000-188092400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:188089200-188089800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:188089400-188090800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:188089600-188090800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:188090600-188092000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr2:188091200-188092200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:188091400-188092200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:188092000-188093800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:188092200-188092400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:188092200-188092400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:188092200-188092400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:188092200-188092600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:188092200-188092600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:188092400-188093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:188092400-188094000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:188092600-188093600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:188092600-188093800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:188093600-188094200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:188093800-188094000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:188093800-188094200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:188093800-188094600	Enhancers	HSMMtube	muscle
31	chr2:188094000-188094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:188094000-188094200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:188094200-188094600	Enhancers	HSMM	muscle
34	chr2:188095000-188095400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:188096000-188096600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:188097600-188099000	Enhancers	HUVEC	blood vessel
37	chr2:188098400-188099000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:188108000-188108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:188108400-188110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:188110000-188111000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:188112800-188113400	Enhancers	HUVEC	blood vessel
42	chr2:188120600-188121000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:188122800-188123600	Enhancers	HUVEC	blood vessel
44	chr2:188123600-188127800	Weak transcription	HUVEC	blood vessel
45	chr2:188126200-188126400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:188126200-188126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:188126400-188127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:188126600-188127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:188127200-188128000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:188127200-188128600	Enhancers	HUES6 Cell Line	embryonic stem cell

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