Variant report

Variant	nsv328635
Chromosome Location	chr5:75667780-75669370
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	chr5:75668414-75668966	K562	blood:	n/a	n/a
2	ARID3A	chr5:75668472-75668800	HepG2	liver:	n/a	n/a
3	ATF1	chr5:75668382-75668766	K562	blood:	n/a	n/a
4	ATF3	chr5:75668393-75668714	K562	blood:	n/a	n/a
5	ATF3	chr5:75668357-75668853	K562	blood:	n/a	n/a
6	BACH1	chr5:75667878-75669011	K562	blood:	n/a	chr5:75668608-75668622
7	BACH1	chr5:75668283-75668832	H1-hESC	embryonic stem cell:	n/a	chr5:75668608-75668622
8	BHLHE40	chr5:75668018-75669098	K562	blood:	n/a	n/a
9	BRCA1	chr5:75668490-75668718	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr5:75668317-75668879	K562	blood:	n/a	n/a
11	CCNT2	chr5:75668210-75668832	K562	blood:	n/a	n/a
12	CEBPB	chr5:75668396-75668758	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:75668244-75668737	K562	blood:	n/a	n/a
14	CEBPB	chr5:75668372-75668845	IMR90	lung:	n/a	n/a
15	CEBPB	chr5:75668431-75668814	K562	blood:	n/a	n/a
16	CEBPD	chr5:75668342-75668901	K562	blood:	n/a	n/a
17	CHD1	chr5:75667802-75669047	IMR90	lung:	n/a	n/a
18	CHD2	chr5:75668489-75668710	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr5:75668585-75668889	K562	blood:	n/a	n/a
20	CTCF	chr5:75668620-75668770	AG04449	skin:	n/a	n/a
21	CUX1	chr5:75668410-75669046	K562	blood:	n/a	n/a
22	E2F4	chr5:75668208-75668710	MCF10A-Er-Src	breast:	n/a	n/a
23	EGR1	chr5:75668448-75668867	K562	blood:	n/a	n/a
24	ELF1	chr5:75667867-75668731	K562	blood:	n/a	n/a
25	EP300	chr5:75668417-75668750	SK-N-SH_RA	brain:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
26	EP300	chr5:75668350-75668729	SK-N-SH_RA	brain:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
27	EP300	chr5:75668455-75668809	Hela-S3	cervix:	n/a	chr5:75668610-75668619 chr5:75668765-75668778 chr5:75668563-75668572 chr5:75668611-75668620
28	EP300	chr5:75668440-75668781	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668765-75668778 chr5:75668563-75668572 chr5:75668611-75668620
29	EP300	chr5:75668539-75668659	GM12878	blood:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
30	EP300	chr5:75668330-75668764	HepG2	liver:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
31	EP300	chr5:75668050-75668835	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668765-75668778 chr5:75668563-75668572 chr5:75668611-75668620
32	FOS	chr5:75667675-75668039	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868
33	FOS	chr5:75668392-75668816	Hela-S3	cervix:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
34	FOS	chr5:75667714-75668053	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868
35	FOS	chr5:75667724-75668051	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868
36	FOS	chr5:75668382-75668830	MCF10A-Er-Src	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
37	FOS	chr5:75668384-75668842	MCF10A-Er-Src	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
38	FOS	chr5:75668382-75668832	MCF10A-Er-Src	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
39	FOS	chr5:75667665-75668006	MCF10A-Er-Src	breast:	n/a	chr5:75667860-75667867 chr5:75667860-75667868 chr5:75667860-75667868
40	FOS	chr5:75668381-75668866	MCF10A-Er-Src	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
41	FOS	chr5:75668358-75668791	HUVEC	blood vessel:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
42	FOS	chr5:75668361-75668806	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
43	FOSL1	chr5:75668360-75668886	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
44	FOSL1	chr5:75668252-75669034	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
45	FOSL1	chr5:75667642-75669054	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
46	FOSL1	chr5:75668223-75668936	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
47	FOSL2	chr5:75668315-75668905	SK-N-SH	brain:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
48	FOSL2	chr5:75668211-75669050	A549	lung:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
49	FOSL2	chr5:75668285-75668845	MCF-7	breast:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
50	FOSL2	chr5:75668368-75668820	HepG2	liver:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75668478-75668528	AG09309	skin:	n/a
2	chr5:75668478-75668528	Hepatocyte	liver:	n/a
3	chr5:75668478-75668528	MCF-7	breast:	n/a
4	chr5:75668478-75668528	RPTEC	kidney:	n/a
5	chr5:75668478-75668528	NT2-D1	testis:	n/a
6	chr5:75668478-75668528	AG04450	lung:	fetal
7	chr5:75668478-75668528	HRPEpiC	eye:	n/a
8	chr5:75668478-75668528	AoSMC	blood vessel:	n/a
9	chr5:75668478-75668528	HEK293	kidney:	embryo
10	chr5:75668478-75668528	PANC-1	pancreas:	n/a
11	chr5:75668478-75668528	BJ	skin:	n/a
12	chr5:75668478-75668528	Jurkat	blood:	n/a
13	chr5:75668478-75668528	HL-60	blood:	n/a
14	chr5:75668478-75668528	HUVEC	blood vessel:	n/a
15	chr5:75668478-75668528	A549	lung:	n/a
16	chr5:75668478-75668528	AG10803	skin:	n/a
17	chr5:75668478-75668528	AG09319	gingival:	n/a
18	chr5:75668478-75668528	HRCEpiC	kidney:	n/a
19	chr5:75668478-75668528	HEEpiC	esophagus:	n/a
20	chr5:75668478-75668528	HCF	heart:	n/a
21	chr5:75668478-75668528	GM12892	blood:	n/a
22	chr5:75668478-75668528	HCT-116	colon:	n/a
23	chr5:75668478-75668528	SAEC	small airway:	n/a
24	chr5:75668478-75668528	BE2_C	brain:	n/a
25	chr5:75668478-75668528	GM06990	blood:	n/a
26	chr5:75668478-75668528	ProgFib	skin:	n/a
27	chr5:75668478-75668528	SK-N-MC	brain:	n/a
28	chr5:75668478-75668528	H1-hESC	embryonic stem cell:	embryo
29	chr5:75668478-75668528	SK-N-SH	brain:	n/a
30	chr5:75668478-75668528	HAEpiC	amniotic membrane:	n/a
31	chr5:75668478-75668528	HCM	heart:	n/a
32	chr5:75668478-75668528	NB4	blood:	n/a
33	chr5:75668478-75668528	SK-N-SH_RA	brain:	n/a
34	chr5:75668478-75668528	NHDF-neo	bronchial:	n/a
35	chr5:75668478-75668528	LNCaP	prostate:	n/a
36	chr5:75668478-75668528	Caco-2	colon:	n/a
37	chr5:75668478-75668528	HPAEpiC	pulmonary alveolar:	n/a
38	chr5:75668478-75668528	Hela-S3	cervix:	n/a
39	chr5:75668478-75668528	SKMC	muscle:	n/a
40	chr5:75668478-75668528	CMK	blood:	n/a
41	chr5:75668478-75668528	AG04449	skin:	fetal
42	chr5:75668478-75668528	PrEC	prostate:	n/a
43	chr5:75668478-75668528	K562	blood:	n/a
44	chr5:75668478-75668528	HepG2	liver:	n/a
45	chr5:75668478-75668528	ECC-1	luminal epithelium:	n/a
46	chr5:75668478-75668528	GM12891	blood:	n/a
47	chr5:75668478-75668528	U87	brain:	n/a
48	chr5:75668478-75668528	NHBE	bronchial:	n/a
49	chr5:75668478-75668528	HRE	kidney:	n/a
50	chr5:75668478-75668528	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:75658187..75661153-chr5:75667943..75670127,2	K562	blood:
2	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:
3	chr5:75630696..75632382-chr5:75666521..75668676,2	K562	blood:
4	chr5:75668230..75670019-chr5:75671615..75674101,2	K562	blood:
5	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:
6	chr5:75663384..75665585-chr5:75666962..75670034,4	K562	blood:

Variant related genes	Relation type
ENSG00000251235	TF binding region
ENSG00000251235	CpG island
ENSG00000251235	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57439426	chr5:75667780-75667781	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs77758792	chr5:75667891-75667892	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs368550828	chr5:75667933-75667934	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376488443	chr5:75667968-75667969	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563752861	chr5:75667970-75667971	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529290588	chr5:75668011-75668012	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542971292	chr5:75668038-75668039	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559828455	chr5:75668043-75668044	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs532356880	chr5:75668076-75668077	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138903111	chr5:75668099-75668100	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187909915	chr5:75668174-75668175	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140329443	chr5:75668183-75668184	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530968972	chr5:75668267-75668268	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549632994	chr5:75668279-75668280	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111497881	chr5:75668342-75668343	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535139668	chr5:75668347-75668348	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150346331	chr5:75668348-75668349	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182288980	chr5:75668360-75668361	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552353378	chr5:75668377-75668378	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187913062	chr5:75668382-75668383	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558045811	chr5:75668397-75668398	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577918837	chr5:75668468-75668469	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543573423	chr5:75668478-75668479	Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs80354322	chr5:75668479-75668480	Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113717379	chr5:75668488-75668489	Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370487797	chr5:75668491-75668492	Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548886641	chr5:75668506-75668507	Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75790111	chr5:75668558-75668559	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545305733	chr5:75668559-75668560	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565209555	chr5:75668592-75668593	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531025213	chr5:75668618-75668619	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531553682	chr5:75668655-75668656	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551138732	chr5:75668659-75668660	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569679802	chr5:75668688-75668689	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61101813	chr5:75668689-75668690	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138851301	chr5:75668690-75668691	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565691654	chr5:75668700-75668701	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371803090	chr5:75668723-75668724	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534554527	chr5:75668734-75668735	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551718521	chr5:75668791-75668792	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192845265	chr5:75668793-75668794	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536881490	chr5:75668827-75668828	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548225297	chr5:75668833-75668834	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114103429	chr5:75668868-75668869	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6859353	chr5:75668872-75668873	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149377396	chr5:75668895-75668896	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536739738	chr5:75668898-75668899	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553008757	chr5:75668979-75668980	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371106032	chr5:75668980-75668981	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146319358	chr5:75668981-75668982	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75660200-75667800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:75660200-75667800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:75660200-75668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:75660400-75667800	Weak transcription	HepG2	liver
5	chr5:75660400-75668000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:75663000-75667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:75663800-75668200	Weak transcription	Spleen	Spleen
8	chr5:75664000-75667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:75664200-75667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:75664200-75667800	Weak transcription	NHEK	skin
11	chr5:75664200-75668000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:75664400-75667800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:75664400-75668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:75665000-75667800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:75665400-75667800	Weak transcription	A549	lung
16	chr5:75667200-75667800	Enhancers	K562	blood
17	chr5:75667200-75668800	Enhancers	Pancreas	Pancrea
18	chr5:75667200-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:75667200-75669000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:75667200-75669000	Enhancers	Placenta	Placenta
21	chr5:75667400-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:75667600-75669000	Enhancers	HMEC	breast
23	chr5:75667800-75668000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:75667800-75668000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:75667800-75668200	Enhancers	A549	lung
26	chr5:75667800-75668400	Enhancers	Adipose Nuclei	Adipose
27	chr5:75667800-75668400	Enhancers	Gastric	stomach
28	chr5:75667800-75668600	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:75667800-75668600	Enhancers	Liver	Liver
30	chr5:75667800-75668800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr5:75667800-75668800	Flanking Active TSS	HepG2	liver
32	chr5:75667800-75668800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:75667800-75669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:75667800-75669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:75667800-75669000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:75667800-75669000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:75667800-75669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:75667800-75669000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:75667800-75669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:75667800-75669000	Enhancers	Esophagus	oesophagus
41	chr5:75667800-75669000	Enhancers	Fetal Intestine Small	intestine
42	chr5:75667800-75669000	Flanking Active TSS	K562	blood
43	chr5:75667800-75669000	Enhancers	NH-A	brain
44	chr5:75667800-75669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:75667800-75669200	Enhancers	NHEK	skin
46	chr5:75667800-75669800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:75668000-75668400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:75668000-75668400	Enhancers	Colonic Mucosa	Colon
49	chr5:75668000-75668600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:75668000-75668600	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links