Variant report

Variant	nsv314
Chromosome Location	chr11:47561564-47606256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2468)
CpG islands
(count:2566)
Chromatin interactive
region (count:99)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2468 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47586886-47587027	K562	blood:	n/a	n/a
2	ARID3A	chr11:47574690-47575022	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:47570594-47570640	K562	blood:	n/a	n/a
4	ARID3A	chr11:47600450-47600712	K562	blood:	n/a	n/a
5	ATF2	chr11:47600242-47600793	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:47600159-47600905	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:47600030-47600860	GM12878	blood:	n/a	n/a
8	ATF2	chr11:47600292-47600736	GM12878	blood:	n/a	n/a
9	ATF3	chr11:47600046-47600805	A549	lung:	n/a	chr11:47600356-47600365
10	ATF3	chr11:47600140-47600790	A549	lung:	n/a	chr11:47600356-47600365
11	ATF3	chr11:47600075-47600778	K562	blood:	n/a	chr11:47600356-47600365
12	ATF3	chr11:47574667-47574960	K562	blood:	n/a	n/a
13	BACH1	chr11:47586882-47587174	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:47600393-47600578	K562	blood:	n/a	n/a
15	BACH1	chr11:47573895-47573898	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr11:47561664-47561856	GM12878	blood:	n/a	n/a
17	BATF	chr11:47600362-47600699	GM12878	blood:	n/a	n/a
18	BCL3	chr11:47574757-47575304	A549	lung:	n/a	chr11:47574774-47574787 chr11:47574889-47574902 chr11:47574885-47574898 chr11:47574826-47574839
19	BCL3	chr11:47600079-47600917	GM12878	blood:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
20	BCL3	chr11:47574293-47575133	GM12878	blood:	n/a	chr11:47574774-47574787 chr11:47574889-47574902 chr11:47574698-47574707 chr11:47574885-47574898 chr11:47574826-47574839
21	BCL3	chr11:47599997-47601241	A549	lung:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
22	BCL3	chr11:47574104-47574611	A549	lung:	n/a	n/a
23	BCL3	chr11:47599741-47600956	A549	lung:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
24	BCLAF1	chr11:47600230-47600858	K562	blood:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
25	BCLAF1	chr11:47600217-47600914	GM12878	blood:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
26	BCLAF1	chr11:47600271-47600866	GM12878	blood:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
27	BCLAF1	chr11:47574513-47575004	GM12878	blood:	n/a	chr11:47574774-47574787 chr11:47574889-47574902 chr11:47574698-47574707 chr11:47574885-47574898 chr11:47574826-47574839
28	BCLAF1	chr11:47574481-47575086	GM12878	blood:	n/a	chr11:47574774-47574787 chr11:47574889-47574902 chr11:47574698-47574707 chr11:47574885-47574898 chr11:47574826-47574839
29	BCLAF1	chr11:47600246-47600862	K562	blood:	n/a	chr11:47600522-47600531 chr11:47600563-47600572
30	BCLAF1	chr11:47586745-47587513	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:47574597-47575040	GM12878	blood:	n/a	chr11:47574772-47574788 chr11:47574769-47574785 chr11:47574820-47574836
32	BHLHE40	chr11:47586898-47587518	GM12878	blood:	n/a	chr11:47587078-47587094
33	BHLHE40	chr11:47574104-47574398	K562	blood:	n/a	n/a
34	BHLHE40	chr11:47600133-47600830	K562	blood:	n/a	n/a
35	BHLHE40	chr11:47586860-47587502	K562	blood:	n/a	chr11:47587078-47587094
36	BHLHE40	chr11:47600199-47600758	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:47573955-47574960	HepG2	liver:	n/a	chr11:47574772-47574788 chr11:47574769-47574785 chr11:47574820-47574836
38	BHLHE40	chr11:47572732-47572992	K562	blood:	n/a	n/a
39	BHLHE40	chr11:47586881-47587297	HepG2	liver:	n/a	chr11:47587078-47587094
40	BHLHE40	chr11:47574677-47575207	K562	blood:	n/a	chr11:47574772-47574788 chr11:47574769-47574785 chr11:47574820-47574836
41	BRCA1	chr11:47574624-47574631	HepG2	liver:	n/a	n/a
42	BRCA1	chr11:47574757-47575031	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr11:47586887-47587357	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:47600075-47600810	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr11:47574279-47574429	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr11:47575160-47575212	GM12878	blood:	n/a	n/a
47	BRCA1	chr11:47574626-47574926	GM12878	blood:	n/a	n/a
48	BRCA1	chr11:47600374-47600689	GM12878	blood:	n/a	n/a
49	BRCA1	chr11:47574736-47575133	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr11:47586916-47587308	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2566 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47586876-47586926	HCM	heart:	n/a
2	chr11:47600596-47600646	MCF10A-Er-Src	breast:	n/a
3	chr11:47600280-47600330	IMR90	lung:	fetal
4	chr11:47574990-47575040	AG10803	skin:	n/a
5	chr11:47586876-47586926	HCM	heart:	n/a
6	chr11:47600596-47600646	MCF10A-Er-Src	breast:	n/a
7	chr11:47600280-47600330	IMR90	lung:	fetal
8	chr11:47574990-47575040	AG10803	skin:	n/a
9	chr11:47600522-47600572	HAEpiC	amniotic membrane:	n/a
10	chr11:47600544-47600594	AoSMC	blood vessel:	n/a
11	chr11:47593274-47593324	SK-N-SH_RA	brain:	n/a
12	chr11:47587499-47587549	T-47D	breast:	n/a
13	chr11:47587410-47587460	GM12878	blood:	n/a
14	chr11:47600596-47600646	HRPEpiC	eye:	n/a
15	chr11:47587211-47587261	HCM	heart:	n/a
16	chr11:47600513-47600563	HIPEpiC	eye:	n/a
17	chr11:47587410-47587460	HCT-116	colon:	n/a
18	chr11:47586994-47587044	Jurkat	blood:	n/a
19	chr11:47591571-47591621	HRCEpiC	kidney:	n/a
20	chr11:47576928-47576978	ProgFib	skin:	n/a
21	chr11:47600851-47600901	PFSK-1	brain:	n/a
22	chr11:47576928-47576978	T-47D	breast:	n/a
23	chr11:47600580-47600630	AG04449	skin:	fetal
24	chr11:47587672-47587722	A549	lung:	n/a
25	chr11:47600596-47600646	Jurkat	blood:	n/a
26	chr11:47574185-47574235	SK-N-SH_RA	brain:	n/a
27	chr11:47593274-47593324	HCPEpiC	choroid plexus:	n/a
28	chr11:47573874-47573924	HepG2	liver:	n/a
29	chr11:47591571-47591621	HRE	kidney:	n/a
30	chr11:47600280-47600330	NHDF-neo	bronchial:	n/a
31	chr11:47600972-47601022	HCT-116	colon:	n/a
32	chr11:47600569-47600619	HAEpiC	amniotic membrane:	n/a
33	chr11:47576928-47576978	HRPEpiC	eye:	n/a
34	chr11:47574547-47574597	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:47574185-47574235	HRE	kidney:	n/a
36	chr11:47600677-47600727	PrEC	prostate:	n/a
37	chr11:47600528-47600578	Jurkat	blood:	n/a
38	chr11:47600580-47600630	ECC-1	luminal epithelium:	n/a
39	chr11:47600081-47600131	Hela-S3	cervix:	n/a
40	chr11:47601700-47601750	SAEC	small airway:	n/a
41	chr11:47600280-47600330	BE2_C	brain:	n/a
42	chr11:47600580-47600630	SK-N-SH	brain:	n/a
43	chr11:47600081-47600131	MCF10A-Er-Src	breast:	n/a
44	chr11:47587499-47587549	GM12892	blood:	n/a
45	chr11:47600596-47600646	SK-N-SH_RA	brain:	n/a
46	chr11:47585888-47585938	SK-N-SH	brain:	n/a
47	chr11:47584600-47584650	HCF	heart:	n/a
48	chr11:47587410-47587460	RPTEC	kidney:	n/a
49	chr11:47600081-47600131	AG09309	skin:	n/a
50	chr11:47600513-47600563	NHBE	bronchial:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:47565208..47567772-chr11:47587108..47588615,2	MCF-7	breast:
2	chr11:47576405..47578054-chr11:47582418..47584611,2	K562	blood:
3	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
4	chr11:47571551..47573073-chr11:47597137..47598833,2	MCF-7	breast:
5	chr1:156630814..156631497-chr11:47573906..47574694,2	Hela-S3	cervix:
6	chr11:47572081..47573898-chr11:47594438..47596905,2	K562	blood:
7	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
8	chr11:47574238..47574738-chr3:167452944..167453711,2	Hela-S3	cervix:
9	chr11:47573178..47576577-chr11:47600513..47602811,3	K562	blood:
10	chr11:47559176..47561794-chr11:47565770..47569453,3	MCF-7	breast:
11	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
12	chr11:47572538..47574748-chr11:47599210..47602112,3	MCF-7	breast:
13	chr11:47543279..47546104-chr11:47567027..47568704,2	K562	blood:
14	chr11:47559425..47562180-chr11:47787809..47790280,2	MCF-7	breast:
15	chr11:47563416..47566124-chr11:47662015..47664163,2	MCF-7	breast:
16	chr11:47535966..47537826-chr11:47584643..47586708,2	K562	blood:
17	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:
18	chr11:47574930..47577234-chr11:47594765..47596418,2	MCF-7	breast:
19	chr11:47515223..47517618-chr11:47586025..47588780,2	K562	blood:
20	chr11:47531749..47534788-chr11:47570653..47573178,3	K562	blood:
21	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
22	chr11:47587108..47587673-chr16:3156360..3157194,2	HCT-116	colon:
23	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
24	chr11:47556325..47561893-chr11:47562676..47568878,7	K562	blood:
25	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:
26	chr11:47586971..47587653-chr8:141521446..141522059,2	HCT-116	colon:
27	chr11:47572750..47576231-chr11:47662956..47665605,3	K562	blood:
28	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:
29	chr11:47560397..47564902-chr11:47572106..47576382,5	K562	blood:
30	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
31	chr11:47574386..47578054-chr11:47581653..47584758,3	K562	blood:
32	chr11:47600406..47601156-chr2:131113338..131114099,2	Hela-S3	cervix:
33	chr11:47573610..47575378-chr11:47787922..47789822,2	MCF-7	breast:
34	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
35	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
36	chr11:47569313..47570979-chr11:47586094..47588532,2	MCF-7	breast:
37	chr11:47557985..47562133-chr11:47565496..47569267,5	K562	blood:
38	chr11:47559176..47561794-chr11:47565770..47569453,3	MCF-7	breast:
39	chr11:47578751..47581226-chr11:47586015..47587663,2	K562	blood:
40	chr11:47565515..47568693-chr11:47572907..47576173,5	K562	blood:
41	chr11:47556325..47561893-chr11:47562676..47568878,7	K562	blood:
42	chr11:47592895..47594465-chr11:47602509..47604698,2	MCF-7	breast:
43	chr11:47586895..47590126-chr11:47609798..47613644,4	MCF-7	breast:
44	chr11:47572081..47573898-chr11:47594438..47596905,2	K562	blood:
45	chr11:47560470..47563383-chr11:47586492..47588638,2	MCF-7	breast:
46	chr11:47571288..47573771-chr11:47598526..47602106,3	MCF-7	breast:
47	chr11:47575048..47576708-chr11:47593287..47595867,2	K562	blood:
48	chr11:47600656..47601156-chr6:109703245..109703989,2	Hela-S3	cervix:
49	chr11:47578751..47581226-chr11:47586015..47587663,2	K562	blood:
50	chr11:47574450..47575951-chr11:47599292..47600981,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAPSN-3	chr11:47574544-47574688	NONHSAT021253
2	lnc-KBTBD4-2	chr11:47579088-47579385	NONHSAT021258

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTPMT1	hsa-miR-186-5p	chr11:47594049-47594069
2	PTPMT1	hsa-miR-186-5p	chr11:47594062-47594068

Variant related genes	Relation type
CELF1	TF binding region
RN7SL652P	TF binding region
NDUFS3	TF binding region
RNU5E-10P	TF binding region
PTPMT1	TF binding region
KBTBD4	TF binding region
FAM180B	TF binding region
ENSG00000231880	TF binding region
CELF1	CpG island
RN7SL652P	CpG island
NDUFS3	CpG island
RNU5E-10P	CpG island
PTPMT1	CpG island
KBTBD4	CpG island
FAM180B	CpG island
ENSG00000231880	CpG island
ENSG00000200376	chromatin interactions
ENSG00000198931	chromatin interactions
ENSG00000263011	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000231880	chromatin interactions
ENSG00000270072	chromatin interactions
ENSG00000229953	chromatin interactions
ENSG00000123444	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000172247	chromatin interactions
ENSG00000109919	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000163536	chromatin interactions
ENSG00000265559	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000196666	chromatin interactions
ENSG00000109920	chromatin interactions
ENSG00000072135	chromatin interactions
ENSG00000213619	chromatin interactions
ENSG00000030066	chromatin interactions
ENSG00000110536	chromatin interactions
ENSG00000149187	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000135535	chromatin interactions
ENSG00000079332	chromatin interactions

Extended variants
information (count: 1729 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1729 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111569651	chr11:47561569-47561570	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs184804191	chr11:47561684-47561685	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs529238531	chr11:47561699-47561700	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143684330	chr11:47561741-47561742	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565867108	chr11:47561806-47561807	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs376932097	chr11:47561814-47561815	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs7940413	chr11:47561837-47561838	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147142722	chr11:47561865-47561866	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs570504414	chr11:47561959-47561960	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs539727065	chr11:47561969-47561970	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs560933554	chr11:47561977-47561978	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs80113656	chr11:47562057-47562058	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs12799666	chr11:47562099-47562100	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs535470728	chr11:47562111-47562112	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs188473159	chr11:47562115-47562116	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs555964865	chr11:47562142-47562143	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs189546640	chr11:47562196-47562197	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs541123090	chr11:47562203-47562204	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs558388489	chr11:47562204-47562205	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs578080670	chr11:47562220-47562221	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs546791915	chr11:47562229-47562230	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs140287883	chr11:47562236-47562237	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs144358463	chr11:47562241-47562242	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs567894716	chr11:47562243-47562244	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs12800077	chr11:47562269-47562270	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs542647870	chr11:47562279-47562280	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs559314178	chr11:47562292-47562293	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs528564722	chr11:47562319-47562320	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs192895744	chr11:47562424-47562425	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs138263192	chr11:47562437-47562438	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs528892656	chr11:47562438-47562439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs200365682	chr11:47562460-47562461	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs114999791	chr11:47562524-47562525	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532953133	chr11:47562611-47562612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs147373567	chr11:47562620-47562621	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs569884563	chr11:47562653-47562654	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs372168254	chr11:47562682-47562683	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs139919963	chr11:47562702-47562703	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs555449084	chr11:47562748-47562749	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs181230160	chr11:47562843-47562844	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs11388019	chr11:47562844-47562845	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs397689899	chr11:47562845-47562846	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs201674240	chr11:47562846-47562847	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs199652958	chr11:47562847-47562848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs200556418	chr11:47562848-47562849	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs565632720	chr11:47562875-47562876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs534717095	chr11:47562896-47562897	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs557535648	chr11:47562943-47562944	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs571608020	chr11:47562989-47562990	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs535210076	chr11:47563032-47563033	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Obesity	20935630	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3068 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546400-47564200	Weak transcription	Thymus	Thymus
3	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
4	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47547800-47562000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47551000-47563200	Enhancers	Fetal Brain Male	brain
7	chr11:47553000-47573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:47554400-47561600	Weak transcription	Fetal Kidney	kidney
9	chr11:47554400-47572400	Weak transcription	Aorta	Aorta
10	chr11:47554800-47571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:47554800-47572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:47557600-47565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:47557800-47563000	Enhancers	Adipose Nuclei	Adipose
14	chr11:47557800-47567000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:47558000-47562600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:47558400-47561600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:47558400-47561800	Weak transcription	Fetal Thymus	thymus
18	chr11:47558400-47572600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:47558800-47565600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:47559000-47566200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:47559000-47567000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:47559000-47571800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:47559400-47561800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:47559400-47562600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:47559400-47562800	Enhancers	Brain Germinal Matrix	brain
26	chr11:47559400-47566200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:47559600-47562200	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:47559600-47562800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:47559600-47572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:47559800-47562200	Enhancers	Fetal Stomach	stomach
31	chr11:47559800-47562600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:47559800-47562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:47560000-47562600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:47560000-47562600	Enhancers	Fetal Lung	lung
35	chr11:47560200-47561600	Enhancers	Colon Smooth Muscle	Colon
36	chr11:47560200-47561800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:47560200-47562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:47560200-47562600	Enhancers	Fetal Brain Female	brain
39	chr11:47560200-47562600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr11:47560200-47563000	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:47560200-47563000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:47560200-47563000	Enhancers	Brain Angular Gyrus	brain
43	chr11:47560200-47563000	Enhancers	Brain Hippocampus Middle	brain
44	chr11:47560400-47561600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:47560400-47561600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:47560400-47561600	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:47560400-47561600	Genic enhancers	HSMM	muscle
48	chr11:47560400-47562000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr11:47560400-47562000	Enhancers	Brain Anterior Caudate	brain
50	chr11:47560400-47562000	Enhancers	Stomach Smooth Muscle	stomach

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