Variant report

Variant	nsv1021060
Chromosome Location	chr5:177386344-177539867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2113)
CpG islands
(count:3788)
Chromatin interactive
region (count:145)
LncRNA
region (count:71)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2113 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:177509018-177509109	K562	blood:	n/a	n/a
2	ARID3A	chr5:177505686-177505861	K562	blood:	n/a	n/a
3	ARID3A	chr5:177489031-177489330	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:177502919-177503479	K562	blood:	n/a	n/a
5	ARID3A	chr5:177501535-177501770	K562	blood:	n/a	n/a
6	ATF1	chr5:177397729-177397797	K562	blood:	n/a	n/a
7	ATF1	chr5:177501599-177501878	K562	blood:	n/a	n/a
8	ATF1	chr5:177488127-177488326	K562	blood:	n/a	n/a
9	ATF2	chr5:177502996-177503467	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:177488983-177489303	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:177517794-177518167	GM12878	blood:	n/a	n/a
12	ATF3	chr5:177539555-177539837	K562	blood:	n/a	n/a
13	BACH1	chr5:177513286-177513425	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr5:177533518-177533949	GM12878	blood:	n/a	n/a
15	BATF	chr5:177517974-177518200	GM12878	blood:	n/a	chr5:177518104-177518115
16	BATF	chr5:177388724-177389177	GM12878	blood:	n/a	n/a
17	BATF	chr5:177533534-177533878	GM12878	blood:	n/a	n/a
18	BATF	chr5:177517917-177518240	GM12878	blood:	n/a	chr5:177518104-177518115
19	BCL11A	chr5:177388404-177388659	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:177388361-177389261	GM12878	blood:	n/a	n/a
21	BCL3	chr5:177407457-177407839	GM12878	blood:	n/a	n/a
22	BHLHE40	chr5:177473797-177474152	GM12878	blood:	n/a	n/a
23	BHLHE40	chr5:177508640-177508713	K562	blood:	n/a	n/a
24	BHLHE40	chr5:177505465-177505754	K562	blood:	n/a	n/a
25	BHLHE40	chr5:177501652-177502161	K562	blood:	n/a	n/a
26	BHLHE40	chr5:177496888-177497258	K562	blood:	n/a	n/a
27	BHLHE40	chr5:177495509-177495817	GM12878	blood:	n/a	n/a
28	BHLHE40	chr5:177502860-177503445	K562	blood:	n/a	n/a
29	BHLHE40	chr5:177409159-177409407	K562	blood:	n/a	n/a
30	BHLHE40	chr5:177473936-177474136	K562	blood:	n/a	n/a
31	BHLHE40	chr5:177508946-177509146	K562	blood:	n/a	n/a
32	BHLHE40	chr5:177500008-177500022	K562	blood:	n/a	n/a
33	BHLHE40	chr5:177424317-177424636	K562	blood:	n/a	n/a
34	BHLHE40	chr5:177533564-177533871	GM12878	blood:	n/a	n/a
35	BHLHE40	chr5:177507767-177508135	K562	blood:	n/a	n/a
36	BHLHE40	chr5:177513313-177513502	K562	blood:	n/a	n/a
37	BHLHE40	chr5:177507227-177507564	K562	blood:	n/a	chr5:177507405-177507418
38	BRCA1	chr5:177411778-177411808	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr5:177409151-177409466	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr5:177505151-177505154	GM12878	blood:	n/a	n/a
41	BRCA1	chr5:177503161-177503448	HepG2	liver:	n/a	n/a
42	BRCA1	chr5:177505132-177505950	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr5:177502880-177503511	K562	blood:	n/a	n/a
44	CBX3	chr5:177433930-177434263	K562	blood:	n/a	n/a
45	CBX3	chr5:177433880-177434330	K562	blood:	n/a	n/a
46	CBX3	chr5:177539528-177540793	K562	blood:	n/a	n/a
47	CBX3	chr5:177405853-177406665	K562	blood:	n/a	n/a
48	CBX3	chr5:177501501-177501934	K562	blood:	n/a	n/a
49	CBX3	chr5:177539543-177539918	K562	blood:	n/a	n/a
50	CEBPB	chr5:177423938-177424282	H1-hESC	embryonic stem cell:	n/a	chr5:177424111-177424122

(count:3788 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177399722-177399772	HNPCEpiC	eye:	n/a
2	chr5:177424291-177424341	T-47D	breast:	n/a
3	chr5:177482829-177482879	HEEpiC	esophagus:	n/a
4	chr5:177432811-177432861	GM12891	blood:	n/a
5	chr5:177387597-177387647	SK-N-MC	brain:	n/a
6	chr5:177503040-177503090	AG09309	skin:	n/a
7	chr5:177399722-177399772	HNPCEpiC	eye:	n/a
8	chr5:177424291-177424341	T-47D	breast:	n/a
9	chr5:177482829-177482879	HEEpiC	esophagus:	n/a
10	chr5:177432811-177432861	GM12891	blood:	n/a
11	chr5:177387597-177387647	SK-N-MC	brain:	n/a
12	chr5:177503040-177503090	AG09309	skin:	n/a
13	chr5:177481396-177481446	A549	lung:	n/a
14	chr5:177474496-177474546	ECC-1	luminal epithelium:	n/a
15	chr5:177413021-177413071	GM06990	blood:	n/a
16	chr5:177503123-177503173	Jurkat	blood:	n/a
17	chr5:177503187-177503237	A549	lung:	n/a
18	chr5:177387796-177387846	HCF	heart:	n/a
19	chr5:177432811-177432861	LNCaP	prostate:	n/a
20	chr5:177399722-177399772	HL-60	blood:	n/a
21	chr5:177423379-177423429	HNPCEpiC	eye:	n/a
22	chr5:177413021-177413071	Hepatocyte	liver:	n/a
23	chr5:177411380-177411430	H1-hESC	embryonic stem cell:	embryo
24	chr5:177423236-177423286	NB4	blood:	n/a
25	chr5:177471165-177471215	ovcar-3	ovarian:	n/a
26	chr5:177399722-177399772	SK-N-SH_RA	brain:	n/a
27	chr5:177486005-177486055	H1-hESC	embryonic stem cell:	embryo
28	chr5:177482458-177482508	NHBE	bronchial:	n/a
29	chr5:177423340-177423390	NHBE	bronchial:	n/a
30	chr5:177412718-177412768	A549	lung:	n/a
31	chr5:177482829-177482879	HIPEpiC	eye:	n/a
32	chr5:177412636-177412686	SKMC	muscle:	n/a
33	chr5:177391178-177391228	Hela-S3	cervix:	n/a
34	chr5:177535066-177535116	NHBE	bronchial:	n/a
35	chr5:177396838-177396888	HUVEC	blood vessel:	n/a
36	chr5:177482700-177482750	HRCEpiC	kidney:	n/a
37	chr5:177503187-177503237	AG04450	lung:	fetal
38	chr5:177399722-177399772	HEEpiC	esophagus:	n/a
39	chr5:177412688-177412738	HCF	heart:	n/a
40	chr5:177412688-177412738	NB4	blood:	n/a
41	chr5:177412688-177412738	AG04450	lung:	fetal
42	chr5:177419382-177419432	GM19239	blood:	n/a
43	chr5:177513369-177513419	HAEpiC	amniotic membrane:	n/a
44	chr5:177412718-177412768	NB4	blood:	n/a
45	chr5:177423236-177423286	GM06990	blood:	n/a
46	chr5:177413628-177413678	NT2-D1	testis:	n/a
47	chr5:177523007-177523057	NHDF-neo	bronchial:	n/a
48	chr5:177503187-177503237	Hepatocyte	liver:	n/a
49	chr5:177387597-177387647	GM12891	blood:	n/a
50	chr5:177503040-177503090	PFSK-1	brain:	n/a

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:177498029..177499805-chr5:177505607..177508300,2	MCF-7	breast:
2	chr5:177504236..177505735-chr5:177572544..177573847,8	MCF-7	breast:
3	chr5:177502804..177503762-chr5:177548006..177548509,2	K562	blood:
4	chr5:177410800..177413779-chr5:177425270..177427060,2	MCF-7	breast:
5	chr5:177502843..177503766-chr5:177572297..177573943,6	K562	blood:
6	chr5:177511118..177513387-chr5:177528062..177529998,2	MCF-7	breast:
7	chr5:177488710..177490564-chr5:177502838..177503761,5	MCF-7	breast:
8	chr5:177507320..177507847-chr5:177540649..177541511,2	MCF-7	breast:
9	chr5:177409168..177409692-chr5:177488717..177489218,2	K562	blood:
10	chr5:177488805..177489605-chr5:177502659..177503703,3	MCF-7	breast:
11	chr5:177503347..177505646-chr5:177641521..177643362,2	MCF-7	breast:
12	chr5:177508355..177509265-chr5:177543128..177544079,3	MCF-7	breast:
13	chr5:177408911..177409847-chr5:177488224..177489587,7	MCF-7	breast:
14	chr5:177408911..177409847-chr5:177488224..177489587,7	MCF-7	breast:
15	chr5:177502876..177503458-chr5:177569954..177570712,2	MCF-7	breast:
16	chr5:177407733..177409330-chr5:177502018..177504540,2	MCF-7	breast:
17	chr5:177484315..177487121-chr5:177489310..177491677,2	MCF-7	breast:
18	chr5:177511880..177515342-chr5:177630419..177634812,5	MCF-7	breast:
19	chr5:177505071..177505996-chr5:177517634..177518134,2	MCF-7	breast:
20	chr5:177519806..177521961-chr5:177524247..177526841,2	K562	blood:
21	chr5:177503473..177505021-chr5:177651822..177653658,2	K562	blood:
22	chr5:177503005..177503788-chr5:177550635..177551295,2	MCF-7	breast:
23	chr5:177502598..177505012-chr5:177659376..177662202,2	K562	blood:
24	chr5:177497126..177498944-chr5:177499213..177500969,2	K562	blood:
25	chr5:177494028..177495637-chr5:177496085..177498186,2	MCF-7	breast:
26	chr5:177507498..177508323-chr5:177543092..177543988,3	MCF-7	breast:
27	chr5:177518051..177521986-chr5:177526387..177530024,4	MCF-7	breast:
28	chr5:177410800..177413779-chr5:177425270..177427060,2	MCF-7	breast:
29	chr4:99062354..99064819-chr5:177533143..177535952,2	MCF-7	breast:
30	chr5:177502576..177503826-chr5:177590817..177591871,19	K562	blood:
31	chr5:177507358..177510677-chr5:177511682..177513475,3	K562	blood:
32	chr5:177502685..177509813-chr5:177536412..177543158,8	K562	blood:
33	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
34	chr5:177419524..177421391-chr5:177640388..177643109,2	K562	blood:
35	chr5:177496504..177497535-chr5:177590873..177591843,5	MCF-7	breast:
36	chr5:177515847..177518425-chr5:177518686..177521487,4	MCF-7	breast:
37	chr5:177502803..177503440-chr5:177540096..177540958,3	MCF-7	breast:
38	chr5:177502585..177503464-chr5:177537369..177538257,2	MCF-7	breast:
39	chr5:177501438..177504089-chr5:177638746..177641033,2	K562	blood:
40	chr5:177508355..177509065-chr5:177543131..177544079,2	MCF-7	breast:
41	chr5:177409168..177409692-chr5:177488717..177489218,2	K562	blood:
42	chr5:177516313..177518533-chr5:177518658..177522708,4	MCF-7	breast:
43	chr20:52556271..52557065-chr5:177502856..177503639,2	MCF-7	breast:
44	chr5:177502561..177503526-chr5:177548549..177549317,2	MCF-7	breast:
45	chr5:177488786..177489310-chr8:41888731..41889231,2	MCF-7	breast:
46	chr5:177415478..177418787-chr5:177421385..177423708,4	MCF-7	breast:
47	chr5:177502635..177503209-chr5:177592228..177592998,2	MCF-7	breast:
48	chr5:177526479..177529448-chr5:177545070..177546800,2	K562	blood:
49	chr5:177501697..177504213-chr5:177591453..177593229,2	K562	blood:
50	chr5:177493834..177495806-chr5:177498870..177500516,2	K562	blood:

(count:71 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROP1-3	chr5:177479413-177479692	XLOC_005101
2	lnc-FAM153C-1	chr5:177436327-177436382	NR_038353
3	lnc-FAM153C-1	chr5:177485726-177485981	XLOC_004671
4	lnc-FAM153C-1	chr5:177480841-177480974	NONHSAT105506
5	lnc-FAM153C-1	chr5:177433991-177434061	NONHSAT105499
6	lnc-FAM153C-1	chr5:177473415-177473452	NR_038353
7	lnc-FAM153C-1	chr5:177481739-177481780	NONHSAT105509
8	lnc-FAM153C-1	chr5:177437114-177437275	NONHSAT105499
9	lnc-FAM153C-1	chr5:177468694-177468764	NR_038353
10	lnc-FAM153C-1	chr5:177475777-177476322	NONHSAT105503
11	lnc-FAM153C-1	chr5:177480841-177480974	NONHSAT105509
12	lnc-FAM153C-1	chr5:177480841-177480974	NONHSAT105505
13	lnc-FAM153C-1	chr5:177479804-177479990	NONHSAT105509
14	lnc-FAM153C-1	chr5:177479627-177479688	NONHSAT105510
15	lnc-FAM153C-1	chr5:177494016-177494063	NONHSAT105507
16	lnc-FAM153C-1	chr5:177479534-177479688	NONHSAT105504
17	lnc-FAM153C-1	chr5:177462097-177462155	NR_038353
18	lnc-FAM153C-1	chr5:177476266-177476322	NONHSAT105504
19	lnc-FAM153C-1	chr5:177485553-177486069	NONHSAT105513
20	lnc-FAM153C-4	chr5:177390828-177390961	ENSG00000249684.1
21	lnc-FAM153C-1	chr5:177473873-177473940	NR_038353
22	lnc-PROP1-2	chr5:177388755-177388871	XLOC_005099
23	lnc-FAM153C-1	chr5:177463013-177463037	NR_038353
24	lnc-FAM153C-1	chr5:177480841-177480974	NONHSAT105507
25	lnc-FAM153C-1	chr5:177490173-177490591	XLOC_004671
26	lnc-FAM153C-1	chr5:177480841-177480974	NONHSAT105510
27	lnc-FAM153C-1	chr5:177482370-177482560	NONHSAT105510
28	lnc-FAM153C-1	chr5:177435154-177435253	NONHSAT105500
29	lnc-FAM153C-1	chr5:177436327-177436382	NONHSAT105500
30	lnc-FAM153C-7	chr5:177425135-177425904	NONHSAT105495
31	lnc-PROP1-2	chr5:177388524-177388667	XLOC_005099
32	lnc-FAM153C-1	chr5:177437114-177437330	NONHSAT105500
33	lnc-FAM153C-1	chr5:177474029-177474134	NR_038353
34	lnc-FAM153C-1	chr5:177480841-177480974	NONHSAT105504
35	lnc-FAM153C-2	chr5:177389362-177389432	XLOC_004670
36	lnc-FAM153C-1	chr5:177479804-177479990	NONHSAT105507
37	lnc-FAM153C-1	chr5:177479534-177479688	NONHSAT105507
38	lnc-FAM153C-1	chr5:177479534-177479688	NONHSAT105505
39	lnc-FAM153C-1	chr5:177481739-177481808	NONHSAT105510
40	lnc-FAM153C-1	chr5:177490173-177490712	NONHSAT105506
41	lnc-PROP1-3	chr5:177479808-177479818	XLOC_005101
42	lnc-FAM153C-1	chr5:177433967-177434061	NR_038353
43	lnc-FAM153C-4	chr5:177386720-177387150	ENSG00000249684.1
44	lnc-FAM153C-1	chr5:177479804-177479990	NONHSAT105504
45	lnc-FAM153C-1	chr5:177479534-177479688	NONHSAT105506
46	lnc-FAM153C-1	chr5:177494016-177494063	NONHSAT105505
47	lnc-FAM153C-1	chr5:177479804-177479990	NONHSAT105503
48	lnc-FAM153C-1	chr5:177482370-177482560	NONHSAT105511
49	lnc-FAM153C-1	chr5:177489916-177490738	NONHSAT105513
50	lnc-FAM153C-1	chr5:177476298-177476322	NONHSAT105506

No data

Variant related genes	Relation type
PROP1	TF binding region
SUDS3P1	TF binding region
ENSG00000218227	TF binding region
FAM153C	TF binding region
N4BP3	TF binding region
PROP1	CpG island
SUDS3P1	CpG island
ENSG00000218227	CpG island
FAM153C	CpG island
N4BP3	CpG island
ENSG00000196923	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000145911	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000163116	chromatin interactions
ENSG00000175325	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000145916	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000251211	chromatin interactions

Extended variants
information (count: 4984 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4984 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555958187	chr5:177386355-177386356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199931937	chr5:177386377-177386378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139660851	chr5:177386389-177386390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549588972	chr5:177386434-177386435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369822012	chr5:177386459-177386460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527486112	chr5:177386473-177386474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115293382	chr5:177386515-177386516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546894470	chr5:177386529-177386530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571570236	chr5:177386541-177386542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73339885	chr5:177386546-177386547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28605160	chr5:177386573-177386574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79462957	chr5:177386576-177386577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80059282	chr5:177386604-177386605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573076114	chr5:177386614-177386615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533932588	chr5:177386615-177386616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111568825	chr5:177386630-177386631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76516236	chr5:177386633-177386634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114896917	chr5:177386634-177386635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563517137	chr5:177386652-177386653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575560714	chr5:177386653-177386654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200945482	chr5:177386657-177386658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386695407	chr5:177386659-177386660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67990299	chr5:177386661-177386662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371666078	chr5:177386664-177386665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542735675	chr5:177386680-177386681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550183123	chr5:177386689-177386690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13177315	chr5:177386706-177386707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546782448	chr5:177386707-177386708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570244709	chr5:177386719-177386720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111980599	chr5:177386741-177386742	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs551219038	chr5:177386755-177386756	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs529641343	chr5:177386763-177386764	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs549418805	chr5:177386806-177386807	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs200163217	chr5:177386807-177386808	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs75340578	chr5:177386823-177386824	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs62398869	chr5:177386826-177386827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568779713	chr5:177386849-177386850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs191950031	chr5:177386866-177386867	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566225781	chr5:177386889-177386890	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs376382571	chr5:177386893-177386894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs548314073	chr5:177386904-177386905	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs566562780	chr5:177386907-177386908	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs17052390	chr5:177386951-177386952	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs142928070	chr5:177386962-177386963	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs558763046	chr5:177386967-177386968	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs1133729	chr5:177386971-177386972	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs1133728	chr5:177386990-177386991	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs151157469	chr5:177387006-177387007	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572435134	chr5:177387014-177387015	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs556396434	chr5:177387054-177387055	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1117 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177368200-177396400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:177371000-177393000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:177371600-177389600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:177371800-177387400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:177371800-177387600	Weak transcription	Pancreas	Pancrea
6	chr5:177371800-177387800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:177371800-177388200	Weak transcription	Gastric	stomach
8	chr5:177371800-177390200	Weak transcription	Primary T cells from cord blood	blood
9	chr5:177371800-177390800	Weak transcription	Ovary	ovary
10	chr5:177371800-177392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:177371800-177394200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:177371800-177394200	Weak transcription	Right Ventricle	heart
13	chr5:177372200-177390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:177372600-177388200	Weak transcription	Esophagus	oesophagus
15	chr5:177375200-177387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:177378000-177388400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:177378600-177387600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:177379200-177387600	Weak transcription	NHLF	lung
19	chr5:177379200-177392400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:177383800-177393600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:177384400-177386800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:177385000-177389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:177385200-177386400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:177385200-177386400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:177385200-177386400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:177385200-177386600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:177385200-177386800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:177385200-177386800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:177385200-177386800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:177385400-177386400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:177385400-177386400	Enhancers	Fetal Muscle Leg	muscle
32	chr5:177385400-177386400	Enhancers	HSMMtube	muscle
33	chr5:177385600-177386400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:177385600-177386800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:177385600-177386800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:177386200-177386600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:177386400-177387800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:177386400-177393600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:177386400-177394400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:177386600-177386800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:177386600-177395600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:177386800-177387800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:177386800-177388000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:177386800-177388000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:177386800-177388200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:177386800-177388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:177386800-177389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:177386800-177395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:177387600-177387800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:177387600-177388200	Strong transcription	Pancreas	Pancrea

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