Variant report

Variant	nsv832407
Chromosome Location	chr12:50243268-50412236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3457)
CpG islands
(count:4095)
Chromatin interactive
region (count:286)
LncRNA
region (count:81)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3457 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:50339300-50339716	K562	blood:	n/a	n/a
2	ARID3A	chr12:50368076-50368224	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:50246934-50247164	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:50374424-50374852	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:50375083-50375417	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:50262846-50263249	K562	blood:	n/a	n/a
7	ARID3A	chr12:50381774-50382048	HepG2	liver:	n/a	n/a
8	ATF1	chr12:50399106-50399211	K562	blood:	n/a	n/a
9	ATF1	chr12:50271800-50272000	K562	blood:	n/a	n/a
10	ATF1	chr12:50262823-50263325	K562	blood:	n/a	n/a
11	ATF1	chr12:50377696-50378093	K562	blood:	n/a	n/a
12	ATF2	chr12:50339288-50339683	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr12:50339302-50339688	GM12878	blood:	n/a	n/a
14	ATF2	chr12:50339294-50339708	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr12:50262835-50263063	K562	blood:	n/a	n/a
16	ATF3	chr12:50360656-50361096	A549	lung:	n/a	n/a
17	ATF3	chr12:50262715-50263229	K562	blood:	n/a	n/a
18	ATF3	chr12:50324799-50325020	K562	blood:	n/a	n/a
19	BACH1	chr12:50262911-50263055	K562	blood:	n/a	n/a
20	BACH1	chr12:50361370-50361539	K562	blood:	n/a	n/a
21	BACH1	chr12:50339312-50339729	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr12:50339207-50339537	K562	blood:	n/a	n/a
23	BACH1	chr12:50303605-50303834	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr12:50360698-50361605	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr12:50339261-50339570	GM12878	blood:	n/a	chr12:50339433-50339444
26	BCL11A	chr12:50407616-50407797	GM12878	blood:	n/a	n/a
27	BCL3	chr12:50273778-50274003	GM12878	blood:	n/a	n/a
28	BCL3	chr12:50271373-50271866	GM12878	blood:	n/a	n/a
29	BCL3	chr12:50319183-50319504	GM12878	blood:	n/a	n/a
30	BCL3	chr12:50273327-50273697	GM12878	blood:	n/a	n/a
31	BCL3	chr12:50319060-50319535	GM12878	blood:	n/a	n/a
32	BCL3	chr12:50271958-50272352	GM12878	blood:	n/a	n/a
33	BCL3	chr12:50272017-50272348	GM12878	blood:	n/a	n/a
34	BCL3	chr12:50271331-50271931	GM12878	blood:	n/a	n/a
35	BCL3	chr12:50360675-50361617	A549	lung:	n/a	chr12:50360893-50360906
36	BHLHE40	chr12:50356808-50357069	A549	lung:	n/a	n/a
37	BHLHE40	chr12:50348124-50348453	K562	blood:	n/a	n/a
38	BHLHE40	chr12:50286245-50286475	K562	blood:	n/a	n/a
39	BHLHE40	chr12:50262463-50263550	K562	blood:	n/a	n/a
40	BHLHE40	chr12:50362156-50362493	HepG2	liver:	n/a	n/a
41	BHLHE40	chr12:50326617-50326810	K562	blood:	n/a	n/a
42	BHLHE40	chr12:50368050-50368328	K562	blood:	n/a	n/a
43	BHLHE40	chr12:50283694-50283841	HepG2	liver:	n/a	n/a
44	BHLHE40	chr12:50282636-50282857	HepG2	liver:	n/a	n/a
45	BHLHE40	chr12:50308275-50308475	K562	blood:	n/a	n/a
46	BHLHE40	chr12:50336681-50336809	K562	blood:	n/a	n/a
47	BHLHE40	chr12:50360839-50361028	GM12878	blood:	n/a	n/a
48	BHLHE40	chr12:50356805-50357004	HepG2	liver:	n/a	n/a
49	BHLHE40	chr12:50360337-50361780	K562	blood:	n/a	n/a
50	BHLHE40	chr12:50361245-50361724	GM12878	blood:	n/a	n/a

(count:4095 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50268448-50268498	HRCEpiC	kidney:	n/a
2	chr12:50339482-50339532	IMR90	lung:	fetal
3	chr12:50355307-50355357	NH-A	brain:	n/a
4	chr12:50361401-50361451	LNCaP	prostate:	n/a
5	chr12:50262986-50263036	MCF10A-Er-Src	breast:	n/a
6	chr12:50361679-50361729	HEK293	kidney:	embryo
7	chr12:50303785-50303835	GM12891	blood:	n/a
8	chr12:50339186-50339236	HAEpiC	amniotic membrane:	n/a
9	chr12:50268448-50268498	HRCEpiC	kidney:	n/a
10	chr12:50339482-50339532	IMR90	lung:	fetal
11	chr12:50355307-50355357	NH-A	brain:	n/a
12	chr12:50361401-50361451	LNCaP	prostate:	n/a
13	chr12:50262986-50263036	MCF10A-Er-Src	breast:	n/a
14	chr12:50361679-50361729	HEK293	kidney:	embryo
15	chr12:50303785-50303835	GM12891	blood:	n/a
16	chr12:50339186-50339236	HAEpiC	amniotic membrane:	n/a
17	chr12:50355995-50356045	RPTEC	kidney:	n/a
18	chr12:50355307-50355357	NB4	blood:	n/a
19	chr12:50297945-50297995	ECC-1	luminal epithelium:	n/a
20	chr12:50288819-50288869	Jurkat	blood:	n/a
21	chr12:50349522-50349572	IMR90	lung:	fetal
22	chr12:50339186-50339236	ECC-1	luminal epithelium:	n/a
23	chr12:50344475-50344525	GM19239	blood:	n/a
24	chr12:50288819-50288869	HEK293	kidney:	embryo
25	chr12:50345765-50345815	PANC-1	pancreas:	n/a
26	chr12:50366542-50366592	ECC-1	luminal epithelium:	n/a
27	chr12:50355995-50356045	SK-N-MC	brain:	n/a
28	chr12:50366471-50366521	ovcar-3	ovarian:	n/a
29	chr12:50276512-50276562	HEK293	kidney:	embryo
30	chr12:50344211-50344261	HCT-116	colon:	n/a
31	chr12:50365171-50365221	GM12878	blood:	n/a
32	chr12:50368110-50368160	PANC-1	pancreas:	n/a
33	chr12:50344211-50344261	ProgFib	skin:	n/a
34	chr12:50306547-50306597	RPTEC	kidney:	n/a
35	chr12:50349329-50349379	GM19239	blood:	n/a
36	chr12:50297793-50297843	MCF10A-Er-Src	breast:	n/a
37	chr12:50298731-50298781	PANC-1	pancreas:	n/a
38	chr12:50297477-50297527	HCF	heart:	n/a
39	chr12:50354962-50355012	HCPEpiC	choroid plexus:	n/a
40	chr12:50293815-50293865	T-47D	breast:	n/a
41	chr12:50357352-50357402	HL-60	blood:	n/a
42	chr12:50355307-50355357	Jurkat	blood:	n/a
43	chr12:50369529-50369579	HMEC	breast:	n/a
44	chr12:50354962-50355012	Jurkat	blood:	n/a
45	chr12:50339482-50339532	Hela-S3	cervix:	n/a
46	chr12:50288819-50288869	RPTEC	kidney:	n/a
47	chr12:50345765-50345815	MCF-7	breast:	n/a
48	chr12:50365171-50365221	Hepatocyte	liver:	n/a
49	chr12:50297936-50297986	HNPCEpiC	eye:	n/a
50	chr12:50365171-50365221	CMK	blood:	n/a

(count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:50390977..50394057-chr12:50395476..50398166,3	K562	blood:
2	chr12:50368103..50369610-chr12:50371234..50372946,2	K562	blood:
3	chr12:50285473..50288081-chr12:50312540..50314584,2	K562	blood:
4	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
5	chr12:50263777..50265615-chr12:50332249..50333962,2	K562	blood:
6	chr12:50368132..50368664-chr12:50463988..50464856,2	K562	blood:
7	chr12:50338638..50340255-chr12:50342218..50344321,2	K562	blood:
8	chr12:50221943..50223980-chr12:50339325..50341007,2	K562	blood:
9	chr12:50390977..50394057-chr12:50395476..50398166,3	K562	blood:
10	chr12:50306187..50308222-chr12:50311319..50313465,2	MCF-7	breast:
11	chr12:50287732..50289351-chr12:50337980..50339700,2	MCF-7	breast:
12	chr12:50260668..50261552-chr12:50339046..50340247,7	MCF-7	breast:
13	chr12:50273812..50276593-chr12:50279241..50281059,2	K562	blood:
14	chr12:50258974..50260618-chr12:50366779..50369622,2	MCF-7	breast:
15	chr12:50301650..50304024-chr12:50450316..50452712,2	MCF-7	breast:
16	chr12:50305622..50307544-chr12:50317876..50320067,2	MCF-7	breast:
17	chr12:50356730..50360184-chr12:50363549..50366213,4	MCF-7	breast:
18	chr12:50368102..50368945-chr12:50449516..50450250,3	K562	blood:
19	chr12:50279366..50281726-chr12:50476723..50478563,2	MCF-7	breast:
20	chr12:50402113..50404435-chr12:50411266..50413680,2	K562	blood:
21	chr12:50289663..50291836-chr12:50301537..50303310,2	MCF-7	breast:
22	chr12:50342580..50344852-chr12:50371020..50373732,2	MCF-7	breast:
23	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
24	chr12:50406498..50409070-chr12:50412781..50414951,2	K562	blood:
25	chr12:50281697..50283308-chr12:50320194..50322369,2	MCF-7	breast:
26	chr12:50338638..50340255-chr12:50342218..50344321,2	K562	blood:
27	chr12:50323141..50325275-chr12:50334464..50336385,2	MCF-7	breast:
28	chr12:50338925..50340024-chr12:50360474..50361632,7	K562	blood:
29	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
30	chr12:50285473..50288081-chr12:50312540..50314584,2	K562	blood:
31	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
32	chr12:50176059..50178005-chr12:50259568..50261964,2	K562	blood:
33	chr12:50330026..50331634-chr12:50334635..50337169,2	MCF-7	breast:
34	chr12:50259475..50261235-chr12:50302095..50303974,2	MCF-7	breast:
35	chr12:50331211..50335185-chr12:50337113..50339426,3	MCF-7	breast:
36	chr12:50410558..50416843-chr12:50417238..50421054,9	MCF-7	breast:
37	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:
38	chr12:50169804..50170372-chr12:50339425..50339966,2	MCF-7	breast:
39	chr12:50331819..50333372-chr12:50347324..50349473,2	MCF-7	breast:
40	chr12:50304573..50306161-chr12:50309678..50311432,3	MCF-7	breast:
41	chr12:50169894..50170636-chr12:50260937..50261477,2	MCF-7	breast:
42	chr12:50402113..50404435-chr12:50411266..50413680,2	K562	blood:
43	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
44	chr12:50382916..50385099-chr12:50400045..50401974,2	MCF-7	breast:
45	chr12:50260757..50261520-chr12:50360476..50361400,3	K562	blood:
46	chr12:50378407..50380112-chr12:50416940..50419198,2	K562	blood:
47	chr12:50261251..50262807-chr12:50275153..50277323,2	MCF-7	breast:
48	chr12:50261163..50264047-chr12:50337700..50340324,2	MCF-7	breast:
49	chr12:50361277..50361786-chr12:50575239..50575897,2	MCF-7	breast:
50	chr12:50398171..50399787-chr12:50403220..50405430,2	K562	blood:

(count:81 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP2-1	chr12:50318141-50318296	ENSG00000257771
2	lnc-FAIM2-1	chr12:50304956-50305073	NONHSAT028150
3	lnc-FAIM2-1	chr12:50304994-50305061	ENSG00000258135
4	lnc-AQP2-1	chr12:50317408-50317464	NONHSAT028156
5	lnc-AQP2-1	chr12:50318719-50318870	NONHSAT028156
6	lnc-AQP2-1	chr12:50319045-50319171	ENSG00000257771
7	lnc-FAIM2-1	chr12:50304956-50305073	ENSG00000258135
8	lnc-AQP2-1	chr12:50322795-50323326	NONHSAT028158
9	lnc-FAIM2-1	chr12:50305597-50305646	XLOC_010072
10	lnc-AQP2-1	chr12:50323159-50323281	ENSG00000257771
11	lnc-FAIM2-1	chr12:50302665-50302896	ENSG00000258135
12	lnc-AQP2-1	chr12:50323482-50323793	ENSG00000257771
13	lnc-AQP2-1	chr12:50318719-50318870	XLOC_009748
14	lnc-AQP2-1	chr12:50319864-50320122	ENSG00000257771
15	lnc-AQP2-1	chr12:50305736-50305866	ENSG00000257771
16	lnc-AQP2-1	chr12:50317565-50317660	XLOC_009748
17	lnc-AQP2-1	chr12:50318718-50318870	NONHSAT028158
18	lnc-AQP2-2	chr12:50254990-50255012	ENSG00000257253
19	lnc-AQP2-1	chr12:50323680-50324103	ENSG00000257771
20	lnc-FAIM2-1	chr12:50302668-50304837	XLOC_010072
21	lnc-AQP2-1	chr12:50317565-50318296	NONHSAT028156
22	lnc-AQP2-1	chr12:50323178-50323326	XLOC_009748
23	lnc-AQP2-1	chr12:50318719-50318870	ENSG00000257771
24	lnc-RACGAP1-2	chr12:50348422-50348440	ENSG00000257378.1
25	lnc-AQP2-1	chr12:50319864-50320272	ENSG00000257771
26	lnc-FAIM2-1	chr12:50305597-50306075	XLOC_010072
27	lnc-AQP2-1	chr12:50319864-50320118	XLOC_009748
28	lnc-FAIM2-1	chr12:50302667-50302896	XLOC_010072
29	lnc-AQP2-1	chr12:50315709-50317464	XLOC_009748
30	lnc-FAIM2-1	chr12:50305597-50305625	ENSG00000258135
31	lnc-AQP2-1	chr12:50305765-50305866	NONHSAT028156
32	lnc-AQP2-2	chr12:50257834-50257980	ENSG00000257253
33	lnc-AQP2-1	chr12:50318239-50318296	NONHSAT028158
34	lnc-AQP2-1	chr12:50319864-50319928	XLOC_009748
35	lnc-FAIM2-1	chr12:50304956-50305073	ENSG00000258135
36	lnc-FAIM2-1	chr12:50302676-50304837	ENSG00000258135
37	lnc-AQP2-1	chr12:50318719-50318870	XLOC_009748
38	lnc-FAIM2-1	chr12:50304956-50305073	XLOC_010072
39	lnc-AQP2-1	chr12:50323501-50324205	NONHSAT028158
40	lnc-AQP2-1	chr12:50323178-50323326	XLOC_009748
41	lnc-AQP2-1	chr12:50315709-50315762	NONHSAT028156
42	lnc-AQP2-1	chr12:50317408-50317464	XLOC_009748
43	lnc-AQP2-1	chr12:50318719-50318870	ENSG00000257771
44	lnc-AQP2-1	chr12:50313789-50314301	ENSG00000257771
45	lnc-AQP2-1	chr12:50318240-50318296	XLOC_009748
46	lnc-AQP2-1	chr12:50305763-50305866	ENSG00000257771
47	lnc-AQP2-1	chr12:50317565-50318296	ENSG00000257771
48	lnc-RACGAP1-1	chr12:50352655-50353427	ENSG00000257588.1
49	lnc-FAIM2-1	chr12:50302666-50304837	NONHSAT028150
50	lnc-AQP2-1	chr12:50323680-50324095	XLOC_009748

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	RACGAP1	hsa-miR-221-3p	chr12:50383087-50383113
2	RACGAP1	hsa-miR-16-5p	chr12:50383365-50383387
3	RACGAP1	hsa-miR-16-5p	chr12:50383720-50383741

Variant related genes	Relation type
ENSG00000257771	TF binding region
ENSG00000257378	TF binding region
AQP2	TF binding region
ENSG00000258135	TF binding region
ENSG00000257253	TF binding region
FAIM2	TF binding region
ENSG00000257588	TF binding region
RACGAP1	TF binding region
ENSG00000242041	TF binding region
AQP5	TF binding region
AQP6	TF binding region
ENSG00000257771	CpG island
ENSG00000257378	CpG island
AQP2	CpG island
ENSG00000258135	CpG island
ENSG00000257253	CpG island
FAIM2	CpG island
ENSG00000257588	CpG island
RACGAP1	CpG island
ENSG00000242041	CpG island
AQP5	CpG island
AQP6	CpG island
ENSG00000272426	chromatin interactions
ENSG00000242041	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000110844	chromatin interactions
ENSG00000258057	chromatin interactions
ENSG00000161798	chromatin interactions
ENSG00000086159	chromatin interactions
ENSG00000186666	chromatin interactions
ENSG00000257378	chromatin interactions
ENSG00000167580	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000161800	chromatin interactions
ENSG00000178449	chromatin interactions
ENSG00000257588	chromatin interactions
ENSG00000066117	chromatin interactions
ENSG00000272368	chromatin interactions
ENSG00000257771	chromatin interactions
ENSG00000167566	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000135472	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000258135	chromatin interactions
ENSG00000139644	chromatin interactions
SMARCD2	miRNA target sites
PPP1R13B	miRNA target sites
SGPL1	miRNA target sites
CYP24A1	miRNA target sites
TNFAIP3	miRNA target sites
STK19	miRNA target sites
VDAC1	miRNA target sites
CBFB	miRNA target sites

Extended variants
information (count: 7427 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:7427 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147251930	chr12:50243283-50243284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4898537	chr12:50243342-50243343	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548016454	chr12:50243366-50243367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4898538	chr12:50243371-50243372	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs189065014	chr12:50243451-50243452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533496409	chr12:50243589-50243590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540087999	chr12:50243641-50243642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11616013	chr12:50243661-50243662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7299134	chr12:50243672-50243673	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576495628	chr12:50243708-50243709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545477112	chr12:50243764-50243765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7302465	chr12:50243795-50243796	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534471245	chr12:50243821-50243822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35383456	chr12:50243881-50243882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575976770	chr12:50243898-50243899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576151070	chr12:50243936-50243937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544963730	chr12:50243963-50243964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542145823	chr12:50243981-50243982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561791491	chr12:50243982-50243983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11169178	chr12:50244023-50244024	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7303074	chr12:50244024-50244025	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7302855	chr12:50244043-50244044	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181457613	chr12:50244071-50244072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552387923	chr12:50244072-50244073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184593288	chr12:50244076-50244077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531773547	chr12:50244078-50244079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548865157	chr12:50244131-50244132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568385410	chr12:50244142-50244143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142924585	chr12:50244262-50244263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150656542	chr12:50244265-50244266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113392614	chr12:50244295-50244296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570089876	chr12:50244309-50244310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539564414	chr12:50244327-50244328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555974148	chr12:50244359-50244360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12316969	chr12:50244380-50244381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535268673	chr12:50244462-50244463	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571108701	chr12:50244468-50244469	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11169179	chr12:50244516-50244517	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572406808	chr12:50244534-50244535	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11169180	chr12:50244565-50244566	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540442180	chr12:50244620-50244621	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188960172	chr12:50244682-50244683	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374531978	chr12:50244758-50244759	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577301993	chr12:50244761-50244762	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10875980	chr12:50244767-50244768	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs540130128	chr12:50244803-50244804	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531953799	chr12:50244957-50244958	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10875981	chr12:50244968-50244969	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181553461	chr12:50244972-50244973	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186396380	chr12:50245011-50245012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4318 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50237600-50261200	Weak transcription	Right Atrium	heart
2	chr12:50244200-50244400	Enhancers	GM12878-XiMat	blood
3	chr12:50244400-50245000	Flanking Active TSS	GM12878-XiMat	blood
4	chr12:50245000-50245600	Enhancers	GM12878-XiMat	blood
5	chr12:50247000-50247800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:50247200-50247400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr12:50248600-50248800	Bivalent Enhancer	HepG2	liver
8	chr12:50248600-50249400	Enhancers	Stomach Mucosa	stomach
9	chr12:50253600-50253800	Bivalent Enhancer	Osteobl	bone
10	chr12:50253600-50254000	Bivalent Enhancer	NHEK	skin
11	chr12:50254000-50254200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:50256800-50257600	Bivalent Enhancer	HepG2	liver
13	chr12:50257200-50257400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:50257200-50258000	Enhancers	Fetal Intestine Large	intestine
15	chr12:50257200-50258400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:50257200-50258600	Enhancers	Fetal Lung	lung
17	chr12:50257400-50257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:50257400-50258000	Enhancers	Fetal Intestine Small	intestine
19	chr12:50257400-50259000	Enhancers	Fetal Muscle Leg	muscle
20	chr12:50257800-50258400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:50257800-50258400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr12:50257800-50258400	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:50257800-50258600	Enhancers	Esophagus	oesophagus
24	chr12:50257800-50258600	Enhancers	HSMM	muscle
25	chr12:50257800-50258800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:50257800-50259800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr12:50258000-50258200	Enhancers	HSMMtube	muscle
28	chr12:50258000-50258400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:50258000-50258600	Enhancers	Brain Hippocampus Middle	brain
30	chr12:50258000-50258600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:50258000-50261200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:50258200-50258600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:50258200-50258600	Flanking Active TSS	HSMMtube	muscle
34	chr12:50258200-50258800	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr12:50258200-50260000	Enhancers	Fetal Brain Male	brain
36	chr12:50258400-50258600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:50258400-50258600	Enhancers	Fetal Heart	heart
38	chr12:50258400-50258600	Enhancers	Hela-S3	cervix
39	chr12:50258400-50260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:50258400-50260800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:50258400-50261000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:50258600-50258800	Enhancers	Fetal Brain Female	brain
43	chr12:50258600-50259200	Enhancers	HSMMtube	muscle
44	chr12:50258600-50260600	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:50258600-50260600	Weak transcription	HSMM	muscle
46	chr12:50258600-50260800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:50258600-50260800	Weak transcription	Esophagus	oesophagus
48	chr12:50258600-50261000	Weak transcription	Fetal Heart	heart
49	chr12:50258800-50260600	Weak transcription	Fetal Brain Female	brain
50	chr12:50259000-50259200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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