Variant report

Variant	nsv897329
Chromosome Location	chr11:48052676-48319974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2905)
CpG islands
(count:1406)
Chromatin interactive
region (count:145)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:8)

(count:2905 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48095041-48095124	K562	blood:	n/a	n/a
2	ARID3A	chr11:48082899-48083240	K562	blood:	n/a	n/a
3	ARID3A	chr11:48131445-48131835	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:48130883-48131832	K562	blood:	n/a	n/a
5	ARID3A	chr11:48123329-48123998	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:48194471-48194702	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:48130891-48131217	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:48118839-48119112	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:48114969-48116284	HepG2	liver:	n/a	n/a
10	ATF1	chr11:48292484-48292679	K562	blood:	n/a	n/a
11	ATF1	chr11:48082834-48083315	K562	blood:	n/a	n/a
12	ATF1	chr11:48077433-48077920	K562	blood:	n/a	n/a
13	ATF2	chr11:48125767-48126273	GM12878	blood:	n/a	n/a
14	ATF2	chr11:48125780-48126273	GM12878	blood:	n/a	n/a
15	ATF2	chr11:48128499-48129217	GM12878	blood:	n/a	n/a
16	ATF2	chr11:48094862-48095450	GM12878	blood:	n/a	n/a
17	ATF2	chr11:48077237-48077812	GM12878	blood:	n/a	n/a
18	ATF2	chr11:48053178-48054057	GM12878	blood:	n/a	n/a
19	ATF2	chr11:48085000-48085533	GM12878	blood:	n/a	n/a
20	ATF2	chr11:48131303-48131862	GM12878	blood:	n/a	n/a
21	ATF2	chr11:48073780-48074198	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr11:48131384-48131873	GM12878	blood:	n/a	n/a
23	ATF2	chr11:48128530-48129047	GM12878	blood:	n/a	n/a
24	ATF3	chr11:48082790-48083256	K562	blood:	n/a	n/a
25	ATF3	chr11:48194480-48194676	K562	blood:	n/a	n/a
26	ATF3	chr11:48082760-48083237	K562	blood:	n/a	n/a
27	ATF3	chr11:48194364-48194613	K562	blood:	n/a	n/a
28	BACH1	chr11:48082870-48083255	K562	blood:	n/a	n/a
29	BACH1	chr11:48056328-48056343	K562	blood:	n/a	n/a
30	BACH1	chr11:48110331-48110562	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr11:48119683-48119696	K562	blood:	n/a	n/a
32	BATF	chr11:48077422-48077763	GM12878	blood:	n/a	n/a
33	BATF	chr11:48131437-48131740	GM12878	blood:	n/a	n/a
34	BATF	chr11:48128657-48129110	GM12878	blood:	n/a	n/a
35	BATF	chr11:48085096-48085328	GM12878	blood:	n/a	n/a
36	BATF	chr11:48069274-48069666	GM12878	blood:	n/a	n/a
37	BATF	chr11:48115348-48115634	GM12878	blood:	n/a	n/a
38	BATF	chr11:48128651-48129130	GM12878	blood:	n/a	n/a
39	BATF	chr11:48053484-48053871	GM12878	blood:	n/a	chr11:48053699-48053709 chr11:48053698-48053709
40	BATF	chr11:48131359-48131717	GM12878	blood:	n/a	n/a
41	BATF	chr11:48094903-48095273	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:48115355-48115560	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:48131334-48131777	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:48073903-48074078	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCL11A	chr11:48128623-48129135	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
46	BCL11A	chr11:48128709-48129015	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
47	BCL3	chr11:48128638-48129194	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
48	BCL3	chr11:48084843-48085553	A549	lung:	n/a	n/a
49	BCL3	chr11:48115343-48115664	GM12878	blood:	n/a	n/a
50	BCL3	chr11:48128713-48129121	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48069893-48069943	MCF10A-Er-Src	breast:	n/a
2	chr11:48083100-48083150	AG04450	lung:	fetal
3	chr11:48083100-48083150	GM06990	blood:	n/a
4	chr11:48069893-48069943	MCF10A-Er-Src	breast:	n/a
5	chr11:48083100-48083150	AG04450	lung:	fetal
6	chr11:48083100-48083150	GM06990	blood:	n/a
7	chr11:48284249-48284299	K562	blood:	n/a
8	chr11:48085137-48085187	SK-N-MC	brain:	n/a
9	chr11:48110045-48110095	NHBE	bronchial:	n/a
10	chr11:48069893-48069943	SK-N-MC	brain:	n/a
11	chr11:48185069-48185119	U87	brain:	n/a
12	chr11:48284249-48284299	SAEC	small airway:	n/a
13	chr11:48161380-48161430	Caco-2	colon:	n/a
14	chr11:48238296-48238346	GM12892	blood:	n/a
15	chr11:48237358-48237408	AG09319	gingival:	n/a
16	chr11:48110045-48110095	GM12891	blood:	n/a
17	chr11:48161380-48161430	ECC-1	luminal epithelium:	n/a
18	chr11:48065851-48065901	GM06990	blood:	n/a
19	chr11:48191068-48191118	AG04449	skin:	fetal
20	chr11:48065851-48065901	ECC-1	luminal epithelium:	n/a
21	chr11:48266856-48266906	MCF10A-Er-Src	breast:	n/a
22	chr11:48284249-48284299	RPTEC	kidney:	n/a
23	chr11:48118041-48118091	AoSMC	blood vessel:	n/a
24	chr11:48237358-48237408	GM12891	blood:	n/a
25	chr11:48191068-48191118	HRCEpiC	kidney:	n/a
26	chr11:48129067-48129117	ovcar-3	ovarian:	n/a
27	chr11:48112253-48112303	CMK	blood:	n/a
28	chr11:48191068-48191118	ovcar-3	ovarian:	n/a
29	chr11:48057861-48057911	HCM	heart:	n/a
30	chr11:48238296-48238346	NT2-D1	testis:	n/a
31	chr11:48285821-48285871	Caco-2	colon:	n/a
32	chr11:48085137-48085187	NH-A	brain:	n/a
33	chr11:48266856-48266906	BE2_C	brain:	n/a
34	chr11:48083100-48083150	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:48057861-48057911	GM06990	blood:	n/a
36	chr11:48285200-48285250	AG09319	gingival:	n/a
37	chr11:48191068-48191118	NHDF-neo	bronchial:	n/a
38	chr11:48161380-48161430	NT2-D1	testis:	n/a
39	chr11:48237353-48237403	SK-N-MC	brain:	n/a
40	chr11:48284249-48284299	GM12892	blood:	n/a
41	chr11:48284249-48284299	MCF-7	breast:	n/a
42	chr11:48191068-48191118	AG09319	gingival:	n/a
43	chr11:48285200-48285250	AG04449	skin:	fetal
44	chr11:48112253-48112303	HCM	heart:	n/a
45	chr11:48085137-48085187	NHDF-neo	bronchial:	n/a
46	chr11:48266856-48266906	RPTEC	kidney:	n/a
47	chr11:48110045-48110095	SK-N-SH_RA	brain:	n/a
48	chr11:48185069-48185119	NH-A	brain:	n/a
49	chr11:48285821-48285871	BJ	skin:	n/a
50	chr11:48237358-48237408	HCF	heart:	n/a

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:48105031..48106761-chr11:48108023..48109885,2	MCF-7	breast:
2	chr11:48082980..48084917-chr11:48096551..48099093,2	K562	blood:
3	chr11:48001588..48003458-chr11:48072327..48074096,3	MCF-7	breast:
4	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
5	chr11:48081883..48084532-chr11:48088077..48090811,2	MCF-7	breast:
6	chr11:48097619..48099123-chr11:48100995..48103478,2	MCF-7	breast:
7	chr11:48068073..48069888-chr11:48129032..48131534,2	MCF-7	breast:
8	chr11:48120614..48123449-chr11:48129423..48131714,2	MCF-7	breast:
9	chr11:48147029..48148645-chr11:48154007..48155529,2	MCF-7	breast:
10	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
11	chr11:48162891..48165104-chr11:48166215..48167785,2	K562	blood:
12	chr11:48099180..48102059-chr11:48102708..48105162,2	K562	blood:
13	chr11:48142980..48145287-chr11:48148448..48150580,3	MCF-7	breast:
14	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
15	chr11:48075993..48078690-chr11:48080770..48083090,2	MCF-7	breast:
16	chr11:48109181..48111732-chr11:48113222..48115393,2	K562	blood:
17	chr11:48083070..48085451-chr11:48088899..48092016,4	K562	blood:
18	chr11:48093831..48096549-chr11:48096756..48099477,2	MCF-7	breast:
19	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
20	chr11:48119543..48121197-chr11:48126844..48128670,2	K562	blood:
21	chr11:47968790..47969517-chr11:48130956..48131704,2	MCF-7	breast:
22	chr11:48081533..48083185-chr11:48091579..48093994,2	MCF-7	breast:
23	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
24	chr11:47985562..47986062-chr11:48130641..48131468,2	K562	blood:
25	chr11:47967425..47969925-chr11:48129768..48132712,2	MCF-7	breast:
26	chr11:48098800..48100999-chr11:48104120..48106582,2	MCF-7	breast:
27	chr11:47970432..47972132-chr11:48121699..48124423,2	K562	blood:
28	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
29	chr11:48082980..48084917-chr11:48096551..48099093,2	K562	blood:
30	chr11:48071477..48072173-chr11:48130347..48131089,2	MCF-7	breast:
31	chr11:48063050..48065981-chr11:48070901..48073953,3	MCF-7	breast:
32	chr11:48121014..48122957-chr11:48124539..48127155,2	K562	blood:
33	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
34	chr11:47955553..47956701-chr11:48130593..48132313,16	K562	blood:
35	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
36	chr11:48147718..48152937-chr11:48156132..48159658,5	MCF-7	breast:
37	chr11:48065377..48067770-chr11:48067852..48069454,2	MCF-7	breast:
38	chr11:48010234..48011829-chr11:48063482..48064984,2	MCF-7	breast:
39	chr11:47857319..47859657-chr11:48158646..48160993,2	K562	blood:
40	chr11:18993520..18994020-chr11:48120012..48120966,2	MCF-7	breast:
41	chr11:48108133..48109846-chr11:48110400..48112858,3	MCF-7	breast:
42	chr11:48024330..48026388-chr11:48082917..48084428,2	K562	blood:
43	chr11:48142980..48145287-chr11:48148448..48150580,3	MCF-7	breast:
44	chr11:48292794..48294613-chr11:48297509..48299435,2	K562	blood:
45	chr11:48068334..48069860-chr11:48070016..48072544,2	MCF-7	breast:
46	chr11:47985506..47986348-chr11:48130588..48131464,3	MCF-7	breast:
47	chr11:48109181..48111732-chr11:48113222..48115393,2	K562	blood:
48	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
49	chr11:47736486..47737053-chr11:48130967..48131472,2	K562	blood:
50	chr11:48292794..48294613-chr11:48297509..48299435,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3161	chr11:48118343-48118365	MIMAT0015035

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTPRJ	hsa-miR-16-5p	chr11:48190236-48190242
2	PTPRJ	hsa-miR-124-3p	chr11:48189431-48189437
3	PTPRJ	hsa-miR-328-3p	chr11:48191725-48191748
4	PTPRJ	hsa-miR-16-5p	chr11:48190225-48190243
5	PTPRJ	hsa-miR-155-5p	chr11:48190367-48190373
6	PTPRJ	hsa-miR-26b-5p	chr11:48190233-48190256
7	PTPRJ	hsa-miR-155-5p	chr11:48190351-48190373
8	PTPRJ	hsa-miR-124-3p	chr11:48189418-48189438

Variant related genes	Relation type
MIR3161	TF binding region
OR4X2	TF binding region
OR4B2P	TF binding region
OR4X1	TF binding region
PTPRJ	TF binding region
OR4B1	TF binding region
MIR3161	CpG island
OR4X2	CpG island
OR4B2P	CpG island
OR4X1	CpG island
PTPRJ	CpG island
OR4B1	CpG island
ENSG00000030066	chromatin interactions
ENSG00000254879	chromatin interactions
ENSG00000165923	chromatin interactions
ENSG00000149177	chromatin interactions

Extended variants
information (count: 6064 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:6064 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12806315	chr11:48052676-48052677	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571931811	chr11:48052700-48052701	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1228047	chr11:48052719-48052720	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs137931503	chr11:48052884-48052885	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540233422	chr11:48053017-48053018	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1228048	chr11:48053023-48053024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139935792	chr11:48053078-48053079	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551749122	chr11:48053101-48053102	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375401948	chr11:48053118-48053119	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79990080	chr11:48053123-48053124	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115368872	chr11:48053147-48053148	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1228049	chr11:48053188-48053189	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73464824	chr11:48053201-48053202	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143363259	chr11:48053227-48053228	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146712486	chr11:48053295-48053296	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372573376	chr11:48053303-48053304	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185968769	chr11:48053317-48053318	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190786396	chr11:48053321-48053322	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558862438	chr11:48053323-48053324	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183099169	chr11:48053454-48053455	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538081044	chr11:48053496-48053497	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34667799	chr11:48053497-48053498	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139422527	chr11:48053500-48053501	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574803704	chr11:48053509-48053510	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560632516	chr11:48053510-48053511	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144132616	chr11:48053583-48053584	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540728906	chr11:48053604-48053605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187117173	chr11:48053642-48053643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560490075	chr11:48053665-48053666	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144905703	chr11:48053706-48053707	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546784502	chr11:48053727-48053728	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545310597	chr11:48053738-48053739	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190421363	chr11:48053778-48053779	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566903309	chr11:48053800-48053801	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149027656	chr11:48053836-48053837	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143097750	chr11:48053838-48053839	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561148007	chr11:48053845-48053846	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73464827	chr11:48053929-48053930	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532847182	chr11:48053948-48053949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546334872	chr11:48054043-48054044	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182965346	chr11:48054044-48054045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572961164	chr11:48054115-48054116	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201270716	chr11:48054171-48054172	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552558034	chr11:48054203-48054204	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538279462	chr11:48054206-48054207	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187641728	chr11:48054274-48054275	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369251502	chr11:48054337-48054338	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs117170141	chr11:48054398-48054399	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs193221324	chr11:48054416-48054417	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377543144	chr11:48054535-48054536	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5778 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48035600-48053000	Weak transcription	Thymus	Thymus
2	chr11:48035600-48056600	Weak transcription	HSMM	muscle
3	chr11:48040600-48053200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:48040800-48053000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:48043600-48052800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:48045000-48053000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:48046400-48056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:48046400-48058200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:48046600-48059600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:48047000-48057800	Weak transcription	NHLF	lung
11	chr11:48047200-48053000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:48047400-48052800	Weak transcription	Right Atrium	heart
13	chr11:48047400-48073400	Weak transcription	HSMMtube	muscle
14	chr11:48047400-48073800	Weak transcription	Left Ventricle	heart
15	chr11:48047600-48053000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:48047600-48055600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:48047800-48053200	Weak transcription	Fetal Brain Female	brain
18	chr11:48047800-48055000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:48048000-48056600	Weak transcription	Pancreas	Pancrea
20	chr11:48048000-48057200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:48049000-48058600	Genic enhancers	A549	lung
22	chr11:48049400-48056600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:48049600-48053200	Weak transcription	Colonic Mucosa	Colon
24	chr11:48049600-48054200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:48049800-48053000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:48049800-48054400	Enhancers	Stomach Mucosa	stomach
27	chr11:48050200-48052800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:48050200-48068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:48050400-48053000	Enhancers	Hela-S3	cervix
30	chr11:48050400-48053400	Enhancers	Fetal Muscle Leg	muscle
31	chr11:48050400-48053400	Enhancers	Spleen	Spleen
32	chr11:48050400-48053800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:48050400-48053800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:48050400-48054000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:48050400-48055400	Enhancers	Placenta	Placenta
36	chr11:48050400-48058000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:48050600-48053200	Enhancers	Fetal Stomach	stomach
38	chr11:48050600-48053800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:48050600-48053800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:48050600-48053800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:48050800-48052800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:48050800-48052800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:48050800-48053000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:48050800-48053000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:48050800-48053200	Enhancers	Fetal Kidney	kidney
46	chr11:48050800-48053800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:48050800-48055000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:48050800-48056800	Weak transcription	Small Intestine	intestine
49	chr11:48050800-48058000	Enhancers	Adipose Nuclei	Adipose
50	chr11:48050800-48058600	Enhancers	Brain Anterior Caudate	brain

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