Variant report

Variant	nsv498007
Chromosome Location	chr1:103573857-104107589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1842)
CpG islands
(count:1466)
Chromatin interactive
region (count:17)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:104068398-104069159	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:104103048-104103509	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:104076441-104076543	K562	blood:	n/a	n/a
4	ARID3A	chr1:104068425-104069462	K562	blood:	n/a	n/a
5	ARID3A	chr1:104104781-104104969	HepG2	liver:	n/a	n/a
6	ATF2	chr1:104104531-104104991	GM12878	blood:	n/a	n/a
7	ATF2	chr1:104068246-104068748	GM12878	blood:	n/a	n/a
8	ATF2	chr1:104068276-104068823	GM12878	blood:	n/a	n/a
9	ATF2	chr1:104060167-104060706	GM12878	blood:	n/a	n/a
10	ATF2	chr1:103715934-103716328	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:103715902-103716238	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:104060069-104060653	GM12878	blood:	n/a	n/a
13	BACH1	chr1:103574145-103574516	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr1:104068947-104069203	GM12878	blood:	n/a	n/a
15	BATF	chr1:104069989-104070340	GM12878	blood:	n/a	chr1:104070131-104070142
16	BATF	chr1:104069996-104070255	GM12878	blood:	n/a	chr1:104070131-104070142
17	BATF	chr1:104059876-104060357	GM12878	blood:	n/a	chr1:104060014-104060024 chr1:104060094-104060103
18	BCL3	chr1:104081714-104081999	GM12878	blood:	n/a	n/a
19	BCLAF1	chr1:104104511-104104987	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:104068286-104068884	GM12878	blood:	n/a	n/a
21	BCLAF1	chr1:104057548-104057847	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:104068347-104069164	GM12878	blood:	n/a	n/a
23	BHLHE40	chr1:104104614-104104992	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:104069904-104070362	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:104067893-104069179	K562	blood:	n/a	n/a
26	BRCA1	chr1:104068338-104068741	HepG2	liver:	n/a	chr1:104068541-104068550
27	BRCA1	chr1:104068347-104068826	GM12878	blood:	n/a	chr1:104068541-104068550
28	BRCA1	chr1:104068257-104069233	Hela-S3	cervix:	n/a	chr1:104068541-104068550
29	BRCA1	chr1:104068332-104068755	H1-hESC	embryonic stem cell:	n/a	chr1:104068541-104068550
30	CBX3	chr1:104068298-104068668	K562	blood:	n/a	n/a
31	CBX3	chr1:104068335-104068703	K562	blood:	n/a	n/a
32	CCNT2	chr1:104068442-104069153	K562	blood:	n/a	n/a
33	CEBPB	chr1:104033511-104033829	K562	blood:	n/a	chr1:104033682-104033693
34	CEBPB	chr1:103621055-103621263	HepG2	liver:	n/a	chr1:103621118-103621129
35	CEBPB	chr1:103741497-103741714	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:104103108-104103415	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:104032490-104032842	Hela-S3	cervix:	n/a	chr1:104032645-104032656
38	CEBPB	chr1:103709083-103709368	IMR90	lung:	n/a	chr1:103709255-103709266 chr1:103709255-103709268 chr1:103709255-103709268 chr1:103709254-103709271 chr1:103709255-103709268
39	CEBPB	chr1:103631802-103632042	IMR90	lung:	n/a	n/a
40	CEBPB	chr1:103590789-103591132	HepG2	liver:	n/a	chr1:103590956-103590967
41	CEBPB	chr1:103662890-103663267	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:104033516-104033806	A549	lung:	n/a	chr1:104033682-104033693
43	CEBPB	chr1:103636156-103636509	ECC-1	luminal epithelium:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
44	CEBPB	chr1:104032495-104032827	HepG2	liver:	n/a	chr1:104032645-104032656
45	CEBPB	chr1:103658483-103658718	A549	lung:	n/a	chr1:103658559-103658570 chr1:103658557-103658568 chr1:103658559-103658568
46	CEBPB	chr1:104069315-104069645	K562	blood:	n/a	chr1:104069437-104069448
47	CEBPB	chr1:103658478-103658663	HepG2	liver:	n/a	chr1:103658559-103658570 chr1:103658557-103658568 chr1:103658559-103658568
48	CEBPB	chr1:103913873-103914258	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:103631845-103632057	A549	lung:	n/a	n/a
50	CEBPB	chr1:103636149-103636512	HepG2	liver:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104096621-104096671	IMR90	lung:	fetal
2	chr1:103574072-103574122	Hela-S3	cervix:	n/a
3	chr1:104096621-104096671	IMR90	lung:	fetal
4	chr1:103574072-103574122	Hela-S3	cervix:	n/a
5	chr1:104068664-104068714	K562	blood:	n/a
6	chr1:104068312-104068362	ECC-1	luminal epithelium:	n/a
7	chr1:104068603-104068653	CMK	blood:	n/a
8	chr1:104068118-104068168	Jurkat	blood:	n/a
9	chr1:103574097-103574147	AG04449	skin:	fetal
10	chr1:104096621-104096671	BJ	skin:	n/a
11	chr1:104065263-104065313	H1-hESC	embryonic stem cell:	embryo
12	chr1:104068603-104068653	AG04450	lung:	fetal
13	chr1:104065263-104065313	HRPEpiC	eye:	n/a
14	chr1:104068704-104068754	AG10803	skin:	n/a
15	chr1:104096621-104096671	PANC-1	pancreas:	n/a
16	chr1:104068490-104068540	AG09309	skin:	n/a
17	chr1:104068301-104068351	HIPEpiC	eye:	n/a
18	chr1:104068567-104068617	HL-60	blood:	n/a
19	chr1:104068118-104068168	H1-hESC	embryonic stem cell:	embryo
20	chr1:104096517-104096567	T-47D	breast:	n/a
21	chr1:104068603-104068653	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:103574619-103574669	HRPEpiC	eye:	n/a
23	chr1:104068664-104068714	HepG2	liver:	n/a
24	chr1:104068603-104068653	HNPCEpiC	eye:	n/a
25	chr1:103574958-103575008	H1-hESC	embryonic stem cell:	embryo
26	chr1:104068603-104068653	HMEC	breast:	n/a
27	chr1:103574619-103574669	HepG2	liver:	n/a
28	chr1:103574072-103574122	HCT-116	colon:	n/a
29	chr1:103574469-103574519	GM12891	blood:	n/a
30	chr1:104068490-104068540	HCM	heart:	n/a
31	chr1:104068312-104068362	RPTEC	kidney:	n/a
32	chr1:104065263-104065313	HIPEpiC	eye:	n/a
33	chr1:103574097-103574147	H1-hESC	embryonic stem cell:	embryo
34	chr1:103574469-103574519	Jurkat	blood:	n/a
35	chr1:104068935-104068985	AoSMC	blood vessel:	n/a
36	chr1:103574523-103574573	U87	brain:	n/a
37	chr1:103574072-103574122	HepG2	liver:	n/a
38	chr1:104096517-104096567	HCM	heart:	n/a
39	chr1:104096517-104096567	BJ	skin:	n/a
40	chr1:103574523-103574573	Jurkat	blood:	n/a
41	chr1:103574097-103574147	BJ	skin:	n/a
42	chr1:103574072-103574122	K562	blood:	n/a
43	chr1:103573989-103574039	HCT-116	colon:	n/a
44	chr1:104068301-104068351	MCF10A-Er-Src	breast:	n/a
45	chr1:103574532-103574582	PrEC	prostate:	n/a
46	chr1:104096517-104096567	GM12891	blood:	n/a
47	chr1:103574097-103574147	NHDF-neo	bronchial:	n/a
48	chr1:104068118-104068168	NT2-D1	testis:	n/a
49	chr1:104068935-104068985	HEK293	kidney:	embryo
50	chr1:104068567-104068617	HIPEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:103571876..103572435-chr1:104003675..104004308,2	MCF-7	breast:
2	chr1:104067350..104070075-chr1:104070516..104073483,5	K562	blood:
3	chr1:104067221..104069850-chr1:104074751..104077723,3	MCF-7	breast:
4	chr1:104067752..104069863-chr1:104085885..104087467,2	MCF-7	breast:
5	chr1:103571462..103572103-chr1:104003560..104004261,2	MCF-7	breast:
6	chr1:104084688..104087612-chr1:104092885..104095420,2	K562	blood:
7	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
8	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:
9	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
10	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
11	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
12	chr1:103782068..103783588-chr9:68418092..68420757,2	K562	blood:
13	chr1:104067350..104071361-chr1:104071688..104074634,4	K562	blood:
14	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
15	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
16	chr1:104067956..104068800-chr18:9474823..9475445,2	Hela-S3	cervix:
17	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMY1B-1	chr1:104068018-104068083	ENSG00000224613.2
2	lnc-AMY1B-1	chr1:103835781-103835986	XLOC_000945
3	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
4	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
5	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
6	lnc-RNPC3-7	chr1:103730089-103730145	NONHSAT004885
7	lnc-RNPC3-1	chr1:103957501-103957557	XLOC_000325
8	lnc-AMY1B-1	chr1:103820969-103821114	XLOC_000945
9	lnc-AMY1B-1	chr1:104011964-104012012	ENSG00000224613.2
10	lnc-AMY1B-1	chr1:103975513-103975718	ENSG00000224613.2
11	lnc-AMY1B-1	chr1:103832177-103832263	XLOC_000945
12	lnc-AMY1B-1	chr1:103961376-103961437	XLOC_000945
13	lnc-AMY1B-1	chr1:104068018-104068105	XLOC_000945
14	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
15	lnc-COL11A1-2	chr1:103604765-103604851	NONHSAT004884
16	lnc-RNPC3-8	chr1:103600583-103600943	NONHSAT004882
17	lnc-AMY1B-1	chr1:103960701-103960846	XLOC_000945
18	lnc-AMY1B-1	chr1:104011964-104012014	XLOC_000945
19	lnc-COL11A1-2	chr1:103594232-103594293	NONHSAT004884
20	lnc-AMY1B-1	chr1:103971909-103971995	ENSG00000224613.2
21	lnc-RNPC3-1	chr1:103967727-103968087	XLOC_000325
22	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
23	lnc-AMY1B-1	chr1:103835781-103835986	XLOC_000945
24	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
25	lnc-AMY1B-1	chr1:104068018-104068115	XLOC_000945
26	lnc-AMY1B-1	chr1:103821644-103821705	XLOC_000945
27	lnc-AMY1B-1	chr1:103961376-103961437	ENSG00000224613.2
28	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
29	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
30	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
31	lnc-RNPC3-2	chr1:103817769-103817825	XLOC_000324
32	lnc-COL11A1-2	chr1:103608369-103608574	NONHSAT004884
33	lnc-AMY1B-1	chr1:103832177-103832263	XLOC_000945
34	lnc-AMY1B-1	chr1:103975600-103975718	XLOC_000945
35	lnc-RNPC3-8	chr1:103590357-103590413	NONHSAT004882
36	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
37	lnc-RNPC3-7	chr1:103740315-103740675	NONHSAT004885
38	lnc-RNPC3-2	chr1:103827995-103828355	XLOC_000324
39	lnc-RNPC3-4	chr1:104066184-104066501	NONHSAT004893
40	lnc-AMY1B-1	chr1:103961391-103961437	XLOC_000945
41	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
42	lnc-AMY1B-1	chr1:103821659-103821705	XLOC_000945

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RNPC3	hsa-miR-192-5p	chr1:104096163-104096184

Variant related genes	Relation type
COL11A1	TF binding region
ACTG1P4	TF binding region
ENSG00000224613	TF binding region
RNPC3	TF binding region
ENSG00000230759	TF binding region
ENSG00000234037	TF binding region
RN7SKP285	TF binding region
ENSG00000232753	TF binding region
AMY2B	TF binding region
COL11A1	CpG island
ACTG1P4	CpG island
ENSG00000224613	CpG island
RNPC3	CpG island
ENSG00000230759	CpG island
ENSG00000234037	CpG island
RN7SKP285	CpG island
ENSG00000232753	CpG island
AMY2B	CpG island
ENSG00000240038	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000185946	chromatin interactions
ENSG00000224613	chromatin interactions
TOMM34	miRNA target sites
TOM1L2	miRNA target sites
EGR2	miRNA target sites
DYRK2	miRNA target sites
EGLN3	miRNA target sites
EGR1	miRNA target sites
TOMM20	miRNA target sites

Extended variants
information (count: 9899 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:9899 , 50 per page) page: 1 2 3 4 5 6 7 ... 198

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567329797	chr1:103573872-103573873	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550989194	chr1:103573874-103573875	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372541219	chr1:103573922-103573923	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536782928	chr1:103573971-103573972	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555059033	chr1:103574072-103574073	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs528191450	chr1:103574094-103574095	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs567472120	chr1:103574097-103574098	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs542226473	chr1:103574119-103574120	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs367996756	chr1:103574138-103574139	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs377024813	chr1:103574145-103574146	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs553005229	chr1:103574156-103574157	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546149986	chr1:103574205-103574206	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs72987897	chr1:103574279-103574280	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556587530	chr1:103574322-103574323	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147237853	chr1:103574403-103574404	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs182277225	chr1:103574411-103574412	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560603531	chr1:103574452-103574453	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573379787	chr1:103574470-103574471	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs538291921	chr1:103574492-103574493	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs557210972	chr1:103574508-103574509	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs569089204	chr1:103574565-103574566	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs139680463	chr1:103574572-103574573	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs113575211	chr1:103574604-103574605	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532886398	chr1:103574621-103574622	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs551285686	chr1:103574640-103574641	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs200407237	chr1:103574652-103574653	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs373668243	chr1:103574657-103574658	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs61814966	chr1:103574668-103574669	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs530068681	chr1:103574671-103574672	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs368188723	chr1:103574680-103574681	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548719031	chr1:103574709-103574710	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148467287	chr1:103574724-103574725	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534018737	chr1:103574725-103574726	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs6671691	chr1:103574777-103574778	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563113347	chr1:103574839-103574840	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs571352738	chr1:103574849-103574850	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs547995136	chr1:103574853-103574854	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11811418	chr1:103574869-103574870	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574899168	chr1:103575013-103575014	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186131709	chr1:103575117-103575118	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554259911	chr1:103575146-103575147	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs572929117	chr1:103575154-103575155	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs190929849	chr1:103575155-103575156	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565513125	chr1:103575175-103575176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs577325201	chr1:103575181-103575182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182726052	chr1:103575277-103575278	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563148290	chr1:103575290-103575291	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530130613	chr1:103575301-103575302	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548634154	chr1:103575412-103575413	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12354142	chr1:103575416-103575417	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	19287141	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2069 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103567400-103575000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:103570400-103575200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:103571400-103574600	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr1:103571400-103574800	Active TSS	Fetal Brain Female	brain
5	chr1:103571600-103574600	Active TSS	HSMMtube	muscle
6	chr1:103571800-103574600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:103571800-103574600	Active TSS	Brain Hippocampus Middle	brain
8	chr1:103571800-103574800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:103571800-103574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:103571800-103574800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:103571800-103575000	Active TSS	Brain Anterior Caudate	brain
12	chr1:103571800-103575000	Active TSS	HSMM	muscle
13	chr1:103571800-103575200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:103571800-103575200	Active TSS	Brain Angular Gyrus	brain
15	chr1:103571800-103575200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:103571800-103575600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:103572000-103574000	Active TSS	NHLF	lung
18	chr1:103572000-103574400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:103572000-103574600	Active TSS	Aorta	Aorta
20	chr1:103572000-103574600	Active TSS	Brain Substantia Nigra	brain
21	chr1:103572000-103574600	Active TSS	Right Atrium	heart
22	chr1:103572000-103574600	Active TSS	NHDF-Ad	bronchial
23	chr1:103572000-103574800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr1:103572000-103574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:103572000-103574800	Active TSS	Fetal Heart	heart
26	chr1:103572000-103575000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:103572000-103575200	Active TSS	A549	lung
28	chr1:103572200-103574600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:103572200-103574800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:103572200-103574800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:103572200-103574800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:103572400-103574600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:103572600-103574600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:103572600-103574800	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:103572600-103575000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:103572800-103574600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:103573000-103574000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:103573000-103574000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:103573000-103574600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:103573000-103575000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:103573200-103574000	Flanking Active TSS	NH-A	brain
42	chr1:103573200-103574200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr1:103573200-103574200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr1:103573400-103574000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr1:103573400-103574200	Enhancers	Liver	Liver
46	chr1:103573400-103574200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr1:103573400-103574200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr1:103573400-103574400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:103573400-103574400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:103573400-103574600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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