Variant report

Variant	nsv560389
Chromosome Location	chr12:118502467-118564087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1197)
CpG islands
(count:672)
Chromatin interactive
region (count:59)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1197 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118558756-118559264	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:118562226-118562856	HepG2	liver:	n/a	chr12:118562642-118562658
3	ARID3A	chr12:118558507-118558922	K562	blood:	n/a	n/a
4	ARID3A	chr12:118563823-118564175	HepG2	liver:	n/a	n/a
5	ATF2	chr12:118558357-118559116	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:118557302-118557844	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:118557184-118557829	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr12:118508532-118508801	K562	blood:	n/a	n/a
9	BACH1	chr12:118558738-118558764	K562	blood:	n/a	n/a
10	BACH1	chr12:118553810-118553899	K562	blood:	n/a	n/a
11	BACH1	chr12:118541814-118542344	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:118502351-118502604	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr12:118541182-118541904	A549	lung:	n/a	chr12:118541198-118541211 chr12:118541680-118541693
14	BHLHE40	chr12:118523032-118523332	K562	blood:	n/a	chr12:118523188-118523201
15	BHLHE40	chr12:118558392-118558763	K562	blood:	n/a	n/a
16	BHLHE40	chr12:118553765-118553819	K562	blood:	n/a	n/a
17	BHLHE40	chr12:118506231-118506757	K562	blood:	n/a	n/a
18	BHLHE40	chr12:118540927-118541296	GM12878	blood:	n/a	chr12:118541198-118541214
19	BRCA1	chr12:118541655-118541768	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr12:118552771-118553322	HCT-116	colon:	n/a	n/a
21	CBX3	chr12:118502259-118502677	K562	blood:	n/a	n/a
22	CCNT2	chr12:118541453-118542116	K562	blood:	n/a	chr12:118541719-118541728
23	CEBPB	chr12:118558760-118559180	HepG2	liver:	n/a	n/a
24	CEBPB	chr12:118525042-118525069	HepG2	liver:	n/a	chr12:118525050-118525061
25	CEBPB	chr12:118557307-118557880	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr12:118546099-118546299	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:118512603-118512786	A549	lung:	n/a	n/a
28	CEBPB	chr12:118539743-118540392	Hela-S3	cervix:	n/a	chr12:118539865-118539876
29	CEBPB	chr12:118539737-118540443	MCF-7	breast:	n/a	chr12:118539865-118539876
30	CEBPB	chr12:118512271-118512401	K562	blood:	n/a	n/a
31	CEBPB	chr12:118512556-118512756	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:118539886-118539922	HepG2	liver:	n/a	n/a
33	CEBPB	chr12:118540763-118542351	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr12:118520716-118520912	A549	lung:	n/a	n/a
35	CEBPD	chr12:118541548-118541978	HepG2	liver:	n/a	n/a
36	CEBPZ	chr12:118562409-118562713	HepG2	liver:	n/a	n/a
37	CHD1	chr12:118560005-118560034	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr12:118558139-118559281	H1-hESC	embryonic stem cell:	n/a	chr12:118558817-118558827
39	CHD1	chr12:118540672-118541676	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:118557431-118557683	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr12:118542242-118542442	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr12:118541601-118541627	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr12:118541902-118542029	HepG2	liver:	n/a	n/a
44	CHD2	chr12:118558701-118558986	Hela-S3	cervix:	n/a	chr12:118558817-118558827
45	CHD2	chr12:118539906-118540329	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr12:118540915-118542346	Hela-S3	cervix:	n/a	chr12:118541717-118541727
47	CREB1	chr12:118541029-118542250	A549	lung:	n/a	n/a
48	CTBP2	chr12:118541112-118542192	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:118558696-118558966	SK-N-SH_RA	brain:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
50	CTCF	chr12:118527600-118527750	A549	lung:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118541585-118541635	HMEC	breast:	n/a
2	chr12:118541585-118541635	HMEC	breast:	n/a
3	chr12:118541731-118541781	HCM	heart:	n/a
4	chr12:118541731-118541781	ProgFib	skin:	n/a
5	chr12:118542027-118542077	PANC-1	pancreas:	n/a
6	chr12:118542027-118542077	AG04449	skin:	fetal
7	chr12:118541851-118541901	HL-60	blood:	n/a
8	chr12:118542027-118542077	NHDF-neo	bronchial:	n/a
9	chr12:118541247-118541297	Jurkat	blood:	n/a
10	chr12:118546039-118546089	HCPEpiC	choroid plexus:	n/a
11	chr12:118542069-118542119	HCPEpiC	choroid plexus:	n/a
12	chr12:118537229-118537279	HRE	kidney:	n/a
13	chr12:118541722-118541772	Jurkat	blood:	n/a
14	chr12:118542069-118542119	NHBE	bronchial:	n/a
15	chr12:118541585-118541635	IMR90	lung:	fetal
16	chr12:118541247-118541297	K562	blood:	n/a
17	chr12:118542069-118542119	GM19239	blood:	n/a
18	chr12:118540222-118540272	HNPCEpiC	eye:	n/a
19	chr12:118541722-118541772	HCT-116	colon:	n/a
20	chr12:118542069-118542119	ProgFib	skin:	n/a
21	chr12:118542027-118542077	GM12892	blood:	n/a
22	chr12:118540222-118540272	MCF-7	breast:	n/a
23	chr12:118542069-118542119	HCM	heart:	n/a
24	chr12:118541247-118541297	HAEpiC	amniotic membrane:	n/a
25	chr12:118540222-118540272	H1-hESC	embryonic stem cell:	embryo
26	chr12:118541585-118541635	H1-hESC	embryonic stem cell:	embryo
27	chr12:118541298-118541348	AG04450	lung:	fetal
28	chr12:118541851-118541901	Caco-2	colon:	n/a
29	chr12:118541585-118541635	U87	brain:	n/a
30	chr12:118541298-118541348	CMK	blood:	n/a
31	chr12:118542069-118542119	SK-N-SH	brain:	n/a
32	chr12:118541731-118541781	AG04449	skin:	fetal
33	chr12:118541298-118541348	HRE	kidney:	n/a
34	chr12:118541298-118541348	RPTEC	kidney:	n/a
35	chr12:118540222-118540272	HRCEpiC	kidney:	n/a
36	chr12:118546039-118546089	LNCaP	prostate:	n/a
37	chr12:118542069-118542119	GM12891	blood:	n/a
38	chr12:118541298-118541348	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:118541722-118541772	H1-hESC	embryonic stem cell:	embryo
40	chr12:118540222-118540272	HAEpiC	amniotic membrane:	n/a
41	chr12:118541585-118541635	AG09319	gingival:	n/a
42	chr12:118546039-118546089	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:118542027-118542077	AG04450	lung:	fetal
44	chr12:118541247-118541297	NHDF-neo	bronchial:	n/a
45	chr12:118540222-118540272	LNCaP	prostate:	n/a
46	chr12:118537229-118537279	A549	lung:	n/a
47	chr12:118542027-118542077	K562	blood:	n/a
48	chr12:118541851-118541901	AG04449	skin:	fetal
49	chr12:118541298-118541348	ProgFib	skin:	n/a
50	chr12:118541247-118541297	A549	lung:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:118497611..118502023-chr12:118502151..118506801,7	MCF-7	breast:
2	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
3	chr12:118545199..118547694-chr12:118551090..118555131,3	K562	blood:
4	chr12:118499929..118502822-chr12:118546043..118548082,2	K562	blood:
5	chr12:118492994..118495394-chr12:118535946..118537983,2	MCF-7	breast:
6	chr12:118497362..118500153-chr12:118516906..118518757,2	MCF-7	breast:
7	chr12:118500122..118501653-chr12:118512160..118515030,2	K562	blood:
8	chr12:118562530..118565335-chr12:118572091..118573836,2	MCF-7	breast:
9	chr12:118497668..118500218-chr12:118509482..118511376,2	MCF-7	breast:
10	chr12:118536275..118537815-chr12:118538077..118540227,2	MCF-7	breast:
11	chr12:118557350..118559971-chr12:118562643..118564283,2	MCF-7	breast:
12	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:
13	chr12:118515190..118516859-chr12:118518288..118520974,2	K562	blood:
14	chr12:118498692..118501195-chr12:118558625..118560440,2	MCF-7	breast:
15	chr12:118558538..118559185-chr12:118813580..118814462,3	K562	blood:
16	chr12:118535048..118536839-chr12:118572300..118574306,2	MCF-7	breast:
17	chr1:202857759..202858556-chr12:118541187..118542115,2	HCT-116	colon:
18	chr12:118526226..118529147-chr12:118529412..118532187,2	MCF-7	breast:
19	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
20	chr12:118540247..118543353-chr12:118543560..118547055,4	MCF-7	breast:
21	chr12:118497552..118500516-chr12:118531780..118533392,2	MCF-7	breast:
22	chr12:118557240..118558785-chr12:118573581..118575509,2	K562	blood:
23	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
24	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
25	chr12:118504697..118507371-chr12:118539472..118541470,2	MCF-7	breast:
26	chr12:118526226..118529147-chr12:118529412..118532187,2	MCF-7	breast:
27	chr12:118497809..118500285-chr12:118500321..118504066,7	MCF-7	breast:
28	chr12:118558384..118559345-chr12:118813588..118814202,2	MCF-7	breast:
29	chr12:118505048..118507205-chr12:118509045..118511843,4	MCF-7	breast:
30	chr12:118321239..118322907-chr12:118502124..118504651,2	MCF-7	breast:
31	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
32	chr12:118564004..118566847-chr12:118573049..118575339,2	K562	blood:
33	chr12:51157194..51157900-chr12:118541616..118542435,2	Hela-S3	cervix:
34	chr12:118498337..118500020-chr12:118515700..118517316,2	MCF-7	breast:
35	chr12:118492843..118495653-chr12:118505555..118507815,2	MCF-7	breast:
36	chr12:118503064..118505027-chr12:118506701..118508410,2	K562	blood:
37	chr12:118538419..118540104-chr12:118573597..118576258,3	MCF-7	breast:
38	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
39	chr12:118545199..118547694-chr12:118551090..118555131,3	K562	blood:
40	chr12:118503851..118505896-chr12:118506182..118508939,2	MCF-7	breast:
41	chr12:118500895..118502503-chr12:118521704..118523739,2	K562	blood:
42	chr1:149224611..149226792-chr12:118554128..118555649,2	MCF-7	breast:
43	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
44	chr12:118533326..118537455-chr12:118538415..118542334,4	K562	blood:
45	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:
46	chr12:118500782..118503248-chr12:118527475..118529536,2	K562	blood:
47	chr12:118500895..118502503-chr12:118521704..118523739,2	K562	blood:
48	chr12:118453669..118455926-chr12:118502791..118505038,2	K562	blood:
49	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
50	chr12:118498174..118502198-chr12:118525626..118528762,4	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-1	chr12:118553516-118555687	XLOC_010212
2	lnc-WSB2-3	chr12:118516370-118516689	ucscGeneNc_uc001txf_2
3	lnc-TAOK3-1	chr12:118555454-118555687	NONHSAT031025
4	lnc-TAOK3-1	chr12:118559306-118559423	XLOC_010212
5	lnc-TAOK3-1	chr12:118541398-118541810	NONHSAT031022
6	lnc-TAOK3-1	chr12:118555475-118555687	XLOC_010212
7	lnc-PEBP1-1	chr12:118550650-118552379	NONHSAT031024
8	lnc-TAOK3-1	chr12:118553516-118555687	XLOC_010212
9	lnc-TAOK3-1	chr12:118539412-118540975	NONHSAT031022
10	lnc-WSB2-4	chr12:118517259-118517411	NONHSAT031018
11	lnc-TAOK3-1	chr12:118559306-118559423	XLOC_010212
12	lnc-TAOK3-1	chr12:118539705-118540072	NONHSAT031023
13	lnc-TAOK3-1	chr12:118555418-118555687	XLOC_010212
14	lnc-TAOK3-1	chr12:118558838-118558980	XLOC_010212
15	lnc-TAOK3-1	chr12:118552165-118555687	NONHSAT031027
16	lnc-TAOK3-1	chr12:118558838-118558980	XLOC_010212
17	lnc-TAOK3-1	chr12:118558838-118558980	NONHSAT031026
18	lnc-TAOK3-1	chr12:118540794-118540861	NONHSAT031023
19	lnc-TAOK3-1	chr12:118552165-118555687	NONHSAT031026
20	lnc-TAOK3-1	chr12:118558834-118558922	NONHSAT031025
21	lnc-WSB2-4	chr12:118519957-118520083	NONHSAT031018
22	lnc-TAOK3-1	chr12:118555262-118555687	XLOC_010212
23	lnc-TAOK3-1	chr12:118554841-118554844	NONHSAT031025
24	lnc-TAOK3-1	chr12:118558834-118558929	XLOC_010212
25	lnc-TAOK3-1	chr12:118552155-118552217	NONHSAT031025
26	lnc-TAOK3-1	chr12:118553619-118555687	XLOC_010212

No data

Variant related genes	Relation type
WSB2	TF binding region
VSIG10	TF binding region
WSB2	CpG island
VSIG10	CpG island
ENSG00000111707	chromatin interactions
ENSG00000089220	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000111445	chromatin interactions
ENSG00000176871	chromatin interactions
ENSG00000135108	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000183155	chromatin interactions
ENSG00000270482	chromatin interactions
PDIK1L	miRNA target sites
ROD1	miRNA target sites
BICD2	miRNA target sites

Extended variants
information (count: 2485 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2485 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8239	chr12:118502467-118502468	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540182638	chr12:118502526-118502527	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs111657969	chr12:118502543-118502544	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs3087752	chr12:118502675-118502676	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11610878	chr12:118502746-118502747	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555149768	chr12:118502800-118502801	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs574596690	chr12:118502848-118502849	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs115641416	chr12:118502849-118502850	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs540967871	chr12:118502856-118502857	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs76341621	chr12:118502871-118502872	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs79612628	chr12:118502897-118502898	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs540093380	chr12:118502917-118502918	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs1128304	chr12:118502937-118502938	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs551719010	chr12:118502951-118502952	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs553663462	chr12:118502991-118502992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs80245079	chr12:118503013-118503014	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs568545224	chr12:118503022-118503023	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs542234885	chr12:118503041-118503042	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs562024429	chr12:118503049-118503050	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs538510700	chr12:118503052-118503053	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs544476051	chr12:118503073-118503074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs74482885	chr12:118503151-118503152	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs182459103	chr12:118503159-118503160	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs187149577	chr12:118503207-118503208	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs548649623	chr12:118503342-118503343	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs113219917	chr12:118503361-118503362	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs549006020	chr12:118503369-118503370	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs568859370	chr12:118503371-118503372	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537903013	chr12:118503465-118503466	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs557437304	chr12:118503468-118503469	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs191749565	chr12:118503498-118503499	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs73217917	chr12:118503523-118503524	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373105748	chr12:118503581-118503582	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs553630581	chr12:118503616-118503617	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573634192	chr12:118503691-118503692	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs78087118	chr12:118503694-118503695	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs555779715	chr12:118503724-118503725	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs3202930	chr12:118503725-118503726	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs544658581	chr12:118503727-118503728	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs564592572	chr12:118503794-118503795	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs137979895	chr12:118503800-118503801	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs533543088	chr12:118503801-118503802	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs138924054	chr12:118503820-118503821	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs560756060	chr12:118503860-118503861	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs184209527	chr12:118503945-118503946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs142144474	chr12:118503946-118503947	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568797730	chr12:118503973-118503974	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs12311701	chr12:118503978-118503979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs113568436	chr12:118503997-118503998	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs187889481	chr12:118504022-118504023	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1556 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118507800	Weak transcription	Lung	lung
2	chr12:118500400-118515400	Weak transcription	Gastric	stomach
3	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
4	chr12:118500600-118503200	Enhancers	Stomach Mucosa	stomach
5	chr12:118500600-118504000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:118500800-118502600	Enhancers	Liver	Liver
8	chr12:118500800-118502600	Enhancers	Placenta	Placenta
9	chr12:118500800-118502800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:118500800-118502800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:118500800-118502800	Enhancers	Adipose Nuclei	Adipose
12	chr12:118500800-118503600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:118500800-118503800	Enhancers	Primary B cells from cord blood	blood
14	chr12:118500800-118503800	Weak transcription	HSMM	muscle
15	chr12:118500800-118504000	Enhancers	Dnd41	blood
16	chr12:118500800-118511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
18	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
19	chr12:118500800-118526400	Weak transcription	HMEC	breast
20	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
22	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:118501000-118502600	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:118501000-118502600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:118501000-118503800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:118501000-118503800	Enhancers	K562	blood
27	chr12:118501000-118504200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:118501000-118508600	Weak transcription	NHDF-Ad	bronchial
29	chr12:118501000-118514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:118501000-118515000	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:118501000-118515200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:118501000-118515400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:118501000-118515400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
35	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
37	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
39	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
41	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
42	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:118501000-118540800	Weak transcription	NH-A	brain
44	chr12:118501200-118502600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:118501200-118502600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:118501200-118502600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:118501200-118503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:118501200-118503200	Enhancers	Fetal Intestine Small	intestine
49	chr12:118501200-118503800	Enhancers	Fetal Intestine Large	intestine
50	chr12:118501200-118506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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