Variant report

Variant	nsv470066
Chromosome Location	chr7:12543794-12618764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:12564537-12564891	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:12564528-12564920	K562	blood:	n/a	n/a
3	ATF2	chr7:12596882-12597248	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr7:12618536-12619019	GM12878	blood:	n/a	n/a
5	ATF3	chr7:12584213-12584565	K562	blood:	n/a	n/a
6	ATF3	chr7:12588711-12589060	K562	blood:	n/a	chr7:12588914-12588927 chr7:12588917-12588925
7	BACH1	chr7:12609596-12609730	K562	blood:	n/a	n/a
8	BACH1	chr7:12609643-12611073	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr7:12618549-12618872	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:12610315-12610515	K562	blood:	n/a	n/a
11	BHLHE40	chr7:12564605-12564755	K562	blood:	n/a	n/a
12	BRCA1	chr7:12564544-12564786	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr7:12557088-12557431	K562	blood:	n/a	n/a
14	CBX3	chr7:12558748-12559243	HCT-116	colon:	n/a	n/a
15	CBX3	chr7:12557129-12557384	K562	blood:	n/a	n/a
16	CEBPB	chr7:12594509-12594840	HepG2	liver:	n/a	chr7:12594667-12594678 chr7:12594667-12594680 chr7:12594667-12594680
17	CEBPB	chr7:12604689-12605034	IMR90	lung:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
18	CEBPB	chr7:12604746-12605077	MCF-7	breast:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
19	CEBPB	chr7:12584232-12584625	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr7:12592993-12593441	K562	blood:	n/a	chr7:12593267-12593278 chr7:12593138-12593149 chr7:12593140-12593149 chr7:12593140-12593149 chr7:12593266-12593277 chr7:12593268-12593277 chr7:12593138-12593151 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593266-12593279 chr7:12593140-12593149 chr7:12593268-12593277 chr7:12593140-12593149
21	CEBPB	chr7:12594499-12594830	A549	lung:	n/a	chr7:12594667-12594678 chr7:12594667-12594680 chr7:12594667-12594680
22	CEBPB	chr7:12604597-12605138	A549	lung:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
23	CEBPB	chr7:12594532-12594842	H1-hESC	embryonic stem cell:	n/a	chr7:12594667-12594678 chr7:12594667-12594680 chr7:12594667-12594680
24	CEBPB	chr7:12587237-12587422	A549	lung:	n/a	chr7:12587310-12587321 chr7:12587308-12587319 chr7:12587308-12587321 chr7:12587404-12587417
25	CEBPB	chr7:12604715-12604973	H1-hESC	embryonic stem cell:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
26	CEBPB	chr7:12604582-12605404	Hela-S3	cervix:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
27	CEBPB	chr7:12593098-12593395	HepG2	liver:	n/a	chr7:12593267-12593278 chr7:12593138-12593149 chr7:12593140-12593149 chr7:12593140-12593149 chr7:12593266-12593277 chr7:12593268-12593277 chr7:12593138-12593151 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593266-12593279 chr7:12593140-12593149 chr7:12593268-12593277 chr7:12593140-12593149
28	CEBPB	chr7:12594485-12594838	K562	blood:	n/a	chr7:12594667-12594678 chr7:12594667-12594680 chr7:12594667-12594680
29	CEBPB	chr7:12564497-12564744	HepG2	liver:	n/a	chr7:12564596-12564607
30	CEBPB	chr7:12587176-12587372	HepG2	liver:	n/a	chr7:12587310-12587321 chr7:12587308-12587319 chr7:12587308-12587321
31	CEBPB	chr7:12593029-12593472	K562	blood:	n/a	chr7:12593267-12593278 chr7:12593138-12593149 chr7:12593140-12593149 chr7:12593140-12593149 chr7:12593266-12593277 chr7:12593268-12593277 chr7:12593138-12593151 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593266-12593279 chr7:12593140-12593149 chr7:12593268-12593277 chr7:12593140-12593149
32	CEBPB	chr7:12609606-12610156	MCF-7	breast:	n/a	chr7:12609886-12609897
33	CEBPB	chr7:12609551-12610065	A549	lung:	n/a	chr7:12609886-12609897
34	CEBPB	chr7:12612628-12612821	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr7:12609674-12609918	K562	blood:	n/a	chr7:12609886-12609897
36	CEBPB	chr7:12604742-12605040	HepG2	liver:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
37	CEBPB	chr7:12564535-12564715	K562	blood:	n/a	chr7:12564596-12564607
38	CEBPB	chr7:12588729-12589042	K562	blood:	n/a	n/a
39	CEBPB	chr7:12593126-12593403	IMR90	lung:	n/a	chr7:12593267-12593278 chr7:12593138-12593149 chr7:12593140-12593149 chr7:12593140-12593149 chr7:12593266-12593277 chr7:12593268-12593277 chr7:12593138-12593151 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593266-12593279 chr7:12593140-12593149 chr7:12593268-12593277 chr7:12593140-12593149
40	CEBPB	chr7:12594503-12594850	IMR90	lung:	n/a	chr7:12594667-12594678 chr7:12594667-12594680 chr7:12594667-12594680
41	CEBPB	chr7:12593171-12593324	H1-hESC	embryonic stem cell:	n/a	chr7:12593267-12593278 chr7:12593266-12593277 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593266-12593279 chr7:12593268-12593277
42	CEBPB	chr7:12609663-12610165	MCF-7	breast:	n/a	chr7:12609886-12609897
43	CEBPB	chr7:12609535-12609983	H1-hESC	embryonic stem cell:	n/a	chr7:12609886-12609897
44	CEBPB	chr7:12584208-12584702	MCF-7	breast:	n/a	n/a
45	CEBPB	chr7:12609650-12610133	Hela-S3	cervix:	n/a	chr7:12609886-12609897
46	CEBPB	chr7:12593100-12593372	Hela-S3	cervix:	n/a	chr7:12593267-12593278 chr7:12593138-12593149 chr7:12593140-12593149 chr7:12593140-12593149 chr7:12593266-12593277 chr7:12593268-12593277 chr7:12593138-12593151 chr7:12593268-12593277 chr7:12593268-12593277 chr7:12593266-12593279 chr7:12593140-12593149 chr7:12593268-12593277 chr7:12593140-12593149
47	CEBPB	chr7:12604722-12605231	K562	blood:	n/a	chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604875 chr7:12604866-12604877 chr7:12604866-12604875 chr7:12604861-12604878 chr7:12604864-12604875
48	CEBPB	chr7:12608445-12608573	K562	blood:	n/a	n/a
49	CEBPB	chr7:12587237-12587361	K562	blood:	n/a	chr7:12587310-12587321 chr7:12587308-12587319 chr7:12587308-12587321
50	CEBPB	chr7:12564468-12564752	Hela-S3	cervix:	n/a	chr7:12564596-12564607

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12610124-12610174	BJ	skin:	n/a
2	chr7:12609460-12609510	NHDF-neo	bronchial:	n/a
3	chr7:12610124-12610174	BJ	skin:	n/a
4	chr7:12609460-12609510	NHDF-neo	bronchial:	n/a
5	chr7:12610384-12610434	K562	blood:	n/a
6	chr7:12610166-12610216	SAEC	small airway:	n/a
7	chr7:12610169-12610219	NT2-D1	testis:	n/a
8	chr7:12609934-12609984	HIPEpiC	eye:	n/a
9	chr7:12607228-12607278	NHBE	bronchial:	n/a
10	chr7:12610166-12610216	PANC-1	pancreas:	n/a
11	chr7:12613522-12613572	ovcar-3	ovarian:	n/a
12	chr7:12613522-12613572	HL-60	blood:	n/a
13	chr7:12610124-12610174	MCF-7	breast:	n/a
14	chr7:12607228-12607278	CMK	blood:	n/a
15	chr7:12610526-12610576	ECC-1	luminal epithelium:	n/a
16	chr7:12610384-12610434	AG04449	skin:	fetal
17	chr7:12607228-12607278	K562	blood:	n/a
18	chr7:12610384-12610434	LNCaP	prostate:	n/a
19	chr7:12610169-12610219	HCM	heart:	n/a
20	chr7:12610384-12610434	NH-A	brain:	n/a
21	chr7:12610355-12610405	SK-N-MC	brain:	n/a
22	chr7:12610169-12610219	HNPCEpiC	eye:	n/a
23	chr7:12610833-12610883	SK-N-MC	brain:	n/a
24	chr7:12610833-12610883	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:12610817-12610867	MCF-7	breast:	n/a
26	chr7:12610689-12610739	GM12892	blood:	n/a
27	chr7:12610169-12610219	MCF-7	breast:	n/a
28	chr7:12610169-12610219	IMR90	lung:	fetal
29	chr7:12610384-12610434	HIPEpiC	eye:	n/a
30	chr7:12610355-12610405	RPTEC	kidney:	n/a
31	chr7:12610196-12610246	PANC-1	pancreas:	n/a
32	chr7:12610196-12610246	HRPEpiC	eye:	n/a
33	chr7:12610355-12610405	U87	brain:	n/a
34	chr7:12610166-12610216	HCM	heart:	n/a
35	chr7:12611607-12611657	PrEC	prostate:	n/a
36	chr7:12610833-12610883	Caco-2	colon:	n/a
37	chr7:12610175-12610225	SK-N-SH	brain:	n/a
38	chr7:12607228-12607278	MCF10A-Er-Src	breast:	n/a
39	chr7:12609907-12609957	HL-60	blood:	n/a
40	chr7:12610196-12610246	GM12878	blood:	n/a
41	chr7:12610355-12610405	HepG2	liver:	n/a
42	chr7:12609907-12609957	NH-A	brain:	n/a
43	chr7:12609934-12609984	HL-60	blood:	n/a
44	chr7:12610384-12610434	GM19239	blood:	n/a
45	chr7:12609934-12609984	ECC-1	luminal epithelium:	n/a
46	chr7:12610196-12610246	A549	lung:	n/a
47	chr7:12610175-12610225	MCF10A-Er-Src	breast:	n/a
48	chr7:12610175-12610225	Hepatocyte	liver:	n/a
49	chr7:12610355-12610405	AG10803	skin:	n/a
50	chr7:12610355-12610405	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12473109..12473862-chr7:12558519..12559485,2	K562	blood:
2	chr7:12564097..12565730-chr7:12662861..12664188,13	K562	blood:
3	chr7:12581456..12583835-chr7:12587187..12589661,2	MCF-7	breast:
4	chr7:12612509..12614606-chr7:12725863..12728271,2	K562	blood:
5	chr7:12602342..12605416-chr7:12608401..12610045,3	K562	blood:
6	chr7:12497885..12498702-chr7:12558562..12559343,2	MCF-7	breast:
7	chr7:12585818..12589608-chr7:12591268..12595860,4	MCF-7	breast:
8	chr7:12564461..12565056-chr7:12726089..12726887,2	K562	blood:
9	chr7:12602342..12605416-chr7:12608401..12610045,3	K562	blood:
10	chr7:12605197..12606724-chr7:12608896..12611041,2	MCF-7	breast:
11	chr19:15260934..15261483-chr7:12582308..12582809,2	MCF-7	breast:
12	chr7:12602271..12604817-chr7:12606061..12607845,2	K562	blood:
13	chr7:12557824..12559651-chr7:12562613..12565542,2	K562	blood:
14	chr7:12564178..12565211-chr7:12663215..12664162,7	MCF-7	breast:
15	chr7:12609604..12611668-chr7:12611750..12616186,4	MCF-7	breast:
16	chr7:12585818..12589608-chr7:12591268..12595860,4	MCF-7	breast:
17	chr7:12602342..12604561-chr7:12608286..12609928,3	K562	blood:
18	chr7:12603978..12606126-chr7:12612783..12614371,2	K562	blood:
19	chr7:12563798..12566063-chr7:12723431..12726105,2	K562	blood:
20	chr7:12570280..12570880-chr7:12663473..12664093,2	MCF-7	breast:
21	chr7:12558222..12560896-chr7:12563188..12565683,2	K562	blood:
22	chr7:12564069..12565148-chr7:12663270..12664407,15	MCF-7	breast:
23	chr7:12581456..12583835-chr7:12587187..12589661,2	MCF-7	breast:
24	chr7:12558451..12560515-chr7:12754100..12757020,2	K562	blood:
25	chr7:12603978..12606126-chr7:12612783..12614371,2	K562	blood:
26	chr7:12598601..12600811-chr7:12605981..12608200,2	K562	blood:
27	chr7:12598601..12600811-chr7:12605981..12608200,2	K562	blood:
28	chr7:12564391..12565035-chr7:13302260..13303224,2	K562	blood:
29	chr7:12602271..12604817-chr7:12606061..12607845,2	K562	blood:
30	chr7:12569916..12571808-chr7:12727581..12730204,2	K562	blood:
31	chr7:12608764..12610772-chr7:12727255..12728888,2	K562	blood:
32	chr7:12558622..12559420-chr7:12663224..12663821,2	MCF-7	breast:
33	chr7:12557824..12559651-chr7:12562613..12565542,2	K562	blood:
34	chr7:12249540..12251997-chr7:12556631..12559101,2	K562	blood:
35	chr7:12602342..12604561-chr7:12608286..12609928,3	K562	blood:
36	chr7:12616812..12619464-chr7:12732050..12734419,2	K562	blood:
37	chr7:12558222..12560896-chr7:12563188..12565683,2	K562	blood:
38	chr7:12563571..12565144-chr7:12668072..12670277,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCIN-2	chr7:12544025-12544172	ENSG00000226690.2
2	lnc-VWDE-1	chr7:12610831-12611017	ENSG00000225606.1
3	lnc-SCIN-2	chr7:12580546-12580761	ENSG00000226690.2
4	lnc-SCIN-2	chr7:12568528-12568670	ENSG00000226690.2
5	lnc-SCIN-2	chr7:12577936-12578082	ENSG00000226690.2
6	lnc-SCIN-2	chr7:12570639-12570718	ENSG00000226690.2
7	lnc-SCIN-2	chr7:12565446-12565530	ENSG00000226690.2
8	lnc-SCIN-3	chr7:12546915-12547104	NONHSAT119232
9	lnc-SCIN-3	chr7:12545633-12545694	NONHSAT119232
10	lnc-SCIN-2	chr7:12570639-12570718	ENSG00000226690.2
11	lnc-SCIN-2	chr7:12581433-12581536	ENSG00000226690.2
12	lnc-SCIN-2	chr7:12580546-12580869	ENSG00000226690.2
13	lnc-SCIN-2	chr7:12565446-12565530	ENSG00000226690.2
14	lnc-VWDE-6	chr7:12592771-12594533	ncRnaDb_ncrna_FR342045_1
15	lnc-SCIN-2	chr7:12578034-12578203	NONHSAT119233
16	lnc-VWDE-1	chr7:12609751-12610474	ENSG00000225606.1
17	lnc-SCIN-2	chr7:12568528-12568554	ENSG00000226690.2
18	lnc-SCIN-3	chr7:12547071-12547552	l_3363_chr7:12529385-12547552_testes
19	lnc-SCIN-3	chr7:12546429-12546638	NONHSAT119232
20	lnc-SCIN-2	chr7:12570639-12570718	NONHSAT119233
21	lnc-SCIN-2	chr7:12544050-12544172	ENSG00000226690.2
22	lnc-SCIN-2	chr7:12568550-12568670	NONHSAT119233
23	lnc-SCIN-2	chr7:12568528-12568670	ENSG00000226690.2

Variant related genes	Relation type
SCIN	TF binding region
ENSG00000225606	TF binding region
ENSG00000224667	TF binding region
ENSG00000226690	TF binding region
SCIN	CpG island
ENSG00000225606	CpG island
ENSG00000224667	CpG island
ENSG00000226690	CpG island
ENSG00000225606	chromatin interactions
ENSG00000006747	chromatin interactions
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions
ENSG00000106460	chromatin interactions

Extended variants
information (count: 2902 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2902 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17166119	chr7:12543794-12543795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140121306	chr7:12543806-12543807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545623702	chr7:12543876-12543877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565439974	chr7:12543883-12543884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548479279	chr7:12543911-12543912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17192389	chr7:12543936-12543937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561169591	chr7:12543954-12543955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530026558	chr7:12544015-12544016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191369266	chr7:12544053-12544054	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs4721111	chr7:12544057-12544058	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528340829	chr7:12544127-12544128	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs112388165	chr7:12544145-12544146	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs571405141	chr7:12544161-12544162	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs190244313	chr7:12544345-12544346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555417366	chr7:12544397-12544398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550648080	chr7:12544441-12544442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73680808	chr7:12544455-12544456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368355792	chr7:12544457-12544458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536264394	chr7:12544472-12544473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531763103	chr7:12544474-12544475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193163963	chr7:12544507-12544508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573603317	chr7:12544534-12544535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1440027	chr7:12544545-12544546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76984081	chr7:12544546-12544547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17166122	chr7:12544570-12544571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575789984	chr7:12544572-12544573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544418231	chr7:12544641-12544642	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527778289	chr7:12544644-12544645	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540314453	chr7:12545638-12545639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs185398089	chr7:12545658-12545659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs577166895	chr7:12545684-12545685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs12669079	chr7:12546432-12546433	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34981847	chr7:12546448-12546449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs576904795	chr7:12546456-12546457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545559152	chr7:12546458-12546459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs182803592	chr7:12546477-12546478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs187086571	chr7:12546483-12546484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547744390	chr7:12546487-12546488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs150579053	chr7:12546495-12546496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs191485104	chr7:12546531-12546532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs547602497	chr7:12546573-12546574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs545427785	chr7:12546601-12546602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs149291343	chr7:12546800-12546801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555996360	chr7:12546828-12546829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575687229	chr7:12546830-12546831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541447625	chr7:12546880-12546881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561315195	chr7:12546885-12546886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528003985	chr7:12546889-12546890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541344210	chr7:12546892-12546893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564751163	chr7:12546900-12546901	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12543600-12544200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:12543600-12544200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:12543600-12544200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:12543600-12544200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:12543600-12544200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:12543600-12544200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:12543600-12544200	Enhancers	Stomach Mucosa	stomach
8	chr7:12543600-12544600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:12543600-12544600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:12543600-12544800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:12543800-12544200	Enhancers	Colon Smooth Muscle	Colon
12	chr7:12543800-12544600	Enhancers	Fetal Intestine Large	intestine
13	chr7:12544000-12544400	Enhancers	Brain Anterior Caudate	brain
14	chr7:12546800-12548800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:12547400-12547800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:12558600-12559200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:12558600-12559200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:12558800-12559200	Enhancers	Gastric	stomach
19	chr7:12558800-12559400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:12559000-12559400	Enhancers	Stomach Mucosa	stomach
21	chr7:12559400-12562400	Weak transcription	Stomach Mucosa	stomach
22	chr7:12562000-12563000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:12562400-12562800	Enhancers	Stomach Mucosa	stomach
24	chr7:12563000-12564600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:12564600-12564800	Enhancers	Stomach Mucosa	stomach
26	chr7:12564600-12565000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:12564600-12565000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:12564600-12565000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:12564600-12565000	Enhancers	Fetal Kidney	kidney
30	chr7:12564600-12565000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:12565000-12569200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:12568400-12568600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:12568600-12569400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:12569200-12569600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:12569200-12570200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:12569200-12570600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:12569200-12570600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:12569400-12569800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:12569400-12570600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:12569400-12570800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:12569600-12570000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:12569600-12570600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:12569600-12570600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:12569800-12575000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:12575000-12575600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:12575600-12576200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:12576200-12585600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:12580400-12580800	Enhancers	Adipose Nuclei	Adipose
49	chr7:12582800-12584000	Enhancers	Fetal Kidney	kidney
50	chr7:12583800-12584200	Enhancers	Placenta	Placenta

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