Variant report

Variant	nsv541034
Chromosome Location	chr11:47404083-47440081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2334)
CpG islands
(count:1587)
Chromatin interactive
region (count:79)
LncRNA
region (count:14)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2334 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47429520-47430056	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:47429214-47430056	K562	blood:	n/a	n/a
3	ARID3A	chr11:47415130-47415289	K562	blood:	n/a	n/a
4	ARID3A	chr11:47425221-47425295	K562	blood:	n/a	n/a
5	ATF1	chr11:47429418-47430175	K562	blood:	n/a	n/a
6	ATF1	chr11:47422432-47422896	K562	blood:	n/a	n/a
7	ATF2	chr11:47429373-47430097	GM12878	blood:	n/a	n/a
8	ATF2	chr11:47438984-47439291	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:47421849-47422432	GM12878	blood:	n/a	n/a
10	ATF2	chr11:47416268-47416698	GM12878	blood:	n/a	n/a
11	ATF2	chr11:47429674-47430111	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:47429509-47430163	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr11:47416210-47416678	GM12878	blood:	n/a	n/a
14	ATF2	chr11:47429283-47430222	GM12878	blood:	n/a	n/a
15	ATF3	chr11:47429537-47430134	A549	lung:	n/a	n/a
16	ATF3	chr11:47429549-47430210	A549	lung:	n/a	n/a
17	ATF3	chr11:47429383-47429857	K562	blood:	n/a	n/a
18	ATF3	chr11:47429483-47430092	K562	blood:	n/a	n/a
19	BACH1	chr11:47429224-47429812	K562	blood:	n/a	n/a
20	BACH1	chr11:47428538-47428757	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr11:47423304-47423325	K562	blood:	n/a	n/a
22	BACH1	chr11:47429537-47429886	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr11:47429447-47430112	GM12878	blood:	n/a	chr11:47429697-47429707
24	BATF	chr11:47429508-47429769	GM12878	blood:	n/a	chr11:47429697-47429707
25	BCL11A	chr11:47429566-47430094	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
26	BCL11A	chr11:47412602-47412826	GM12878	blood:	n/a	chr11:47412787-47412800
27	BCL11A	chr11:47416310-47416595	GM12878	blood:	n/a	chr11:47416354-47416362
28	BCL3	chr11:47437621-47438253	A549	lung:	n/a	n/a
29	BCL3	chr11:47437527-47438289	A549	lung:	n/a	n/a
30	BCL3	chr11:47437612-47437920	K562	blood:	n/a	n/a
31	BCL3	chr11:47438991-47439460	A549	lung:	n/a	n/a
32	BCL3	chr11:47429377-47430130	A549	lung:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
33	BCL3	chr11:47429674-47430140	A549	lung:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
34	BCL3	chr11:47429448-47430172	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
35	BCLAF1	chr11:47429154-47430274	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47430195-47430208 chr11:47430201-47430210 chr11:47429913-47429922 chr11:47430196-47430209 chr11:47429941-47429954 chr11:47430198-47430207 chr11:47430195-47430204 chr11:47430193-47430206
36	BCLAF1	chr11:47416221-47416738	GM12878	blood:	n/a	chr11:47416354-47416362
37	BCLAF1	chr11:47429476-47430095	K562	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
38	BCLAF1	chr11:47429370-47430119	K562	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
39	BCLAF1	chr11:47428898-47430087	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
40	BHLHE40	chr11:47416285-47416613	K562	blood:	n/a	chr11:47416358-47416374 chr11:47416373-47416389
41	BHLHE40	chr11:47425452-47425483	K562	blood:	n/a	n/a
42	BHLHE40	chr11:47430532-47430750	K562	blood:	n/a	n/a
43	BHLHE40	chr11:47412508-47412770	GM12878	blood:	n/a	n/a
44	BHLHE40	chr11:47415173-47415555	K562	blood:	n/a	n/a
45	BHLHE40	chr11:47429321-47430213	GM12878	blood:	n/a	chr11:47429762-47429778 chr11:47430193-47430209
46	BHLHE40	chr11:47421926-47422522	GM12878	blood:	n/a	n/a
47	BHLHE40	chr11:47421463-47421554	K562	blood:	n/a	n/a
48	BHLHE40	chr11:47429201-47430180	K562	blood:	n/a	chr11:47429762-47429778
49	BHLHE40	chr11:47415811-47416056	K562	blood:	n/a	n/a
50	BHLHE40	chr11:47429566-47430179	HepG2	liver:	n/a	chr11:47429762-47429778

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47429939-47429989	SAEC	small airway:	n/a
2	chr11:47429939-47429989	SAEC	small airway:	n/a
3	chr11:47416535-47416585	LNCaP	prostate:	n/a
4	chr11:47421745-47421795	MCF-7	breast:	n/a
5	chr11:47434074-47434124	SK-N-SH	brain:	n/a
6	chr11:47416487-47416537	SK-N-SH_RA	brain:	n/a
7	chr11:47415397-47415447	NH-A	brain:	n/a
8	chr11:47415397-47415447	HEEpiC	esophagus:	n/a
9	chr11:47430812-47430862	T-47D	breast:	n/a
10	chr11:47430336-47430386	AG10803	skin:	n/a
11	chr11:47429649-47429699	CMK	blood:	n/a
12	chr11:47429713-47429763	AG10803	skin:	n/a
13	chr11:47430336-47430386	Hela-S3	cervix:	n/a
14	chr11:47416487-47416537	GM06990	blood:	n/a
15	chr11:47426527-47426577	PFSK-1	brain:	n/a
16	chr11:47430184-47430234	RPTEC	kidney:	n/a
17	chr11:47416487-47416537	SK-N-SH	brain:	n/a
18	chr11:47434074-47434124	AG09309	skin:	n/a
19	chr11:47421745-47421795	HCT-116	colon:	n/a
20	chr11:47438068-47438118	HCT-116	colon:	n/a
21	chr11:47429944-47429994	MCF-7	breast:	n/a
22	chr11:47429713-47429763	BE2_C	brain:	n/a
23	chr11:47429649-47429699	SK-N-SH	brain:	n/a
24	chr11:47429713-47429763	SK-N-MC	brain:	n/a
25	chr11:47416487-47416537	PFSK-1	brain:	n/a
26	chr11:47430812-47430862	HRCEpiC	kidney:	n/a
27	chr11:47415397-47415447	IMR90	lung:	fetal
28	chr11:47421775-47421825	ECC-1	luminal epithelium:	n/a
29	chr11:47416358-47416408	Jurkat	blood:	n/a
30	chr11:47420027-47420077	ovcar-3	ovarian:	n/a
31	chr11:47413087-47413137	Hepatocyte	liver:	n/a
32	chr11:47429873-47429923	HCPEpiC	choroid plexus:	n/a
33	chr11:47416487-47416537	T-47D	breast:	n/a
34	chr11:47416886-47416936	PANC-1	pancreas:	n/a
35	chr11:47416886-47416936	CMK	blood:	n/a
36	chr11:47439533-47439583	U87	brain:	n/a
37	chr11:47430812-47430862	GM06990	blood:	n/a
38	chr11:47429649-47429699	HEK293	kidney:	embryo
39	chr11:47416886-47416936	NH-A	brain:	n/a
40	chr11:47416487-47416537	AoSMC	blood vessel:	n/a
41	chr11:47437783-47437833	LNCaP	prostate:	n/a
42	chr11:47436603-47436653	HEK293	kidney:	embryo
43	chr11:47436928-47436978	Jurkat	blood:	n/a
44	chr11:47430184-47430234	T-47D	breast:	n/a
45	chr11:47437783-47437833	Caco-2	colon:	n/a
46	chr11:47436928-47436978	HUVEC	blood vessel:	n/a
47	chr11:47438068-47438118	HNPCEpiC	eye:	n/a
48	chr11:47415397-47415447	GM19239	blood:	n/a
49	chr11:47429873-47429923	MCF-7	breast:	n/a
50	chr11:47416358-47416408	AG09319	gingival:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:47410723..47415239-chr11:47428368..47430840,4	MCF-7	breast:
2	chr11:47408738..47410572-chr11:47416000..47417788,3	K562	blood:
3	chr11:47397140..47399846-chr11:47404698..47406803,2	MCF-7	breast:
4	chr11:47198635..47199333-chr11:47429103..47429994,3	K562	blood:
5	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
6	chr11:47408757..47411550-chr11:47413345..47415143,3	K562	blood:
7	chr11:47437729..47438229-chr17:62502748..62503253,2	NB4	blood:
8	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
9	chr11:47422367..47424683-chr11:47425551..47427975,2	K562	blood:
10	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
11	chr11:47404462..47406012-chr11:47414080..47416548,2	K562	blood:
12	chr11:47437388..47439082-chr11:47574620..47576834,2	MCF-7	breast:
13	chr11:47399283..47402217-chr11:47408896..47411189,2	K562	blood:
14	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
15	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
16	chr11:47400131..47402578-chr11:47411947..47414997,4	K562	blood:
17	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
18	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:
19	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
20	chr11:47411798..47414791-chr11:47455255..47456985,2	K562	blood:
21	chr11:47400738..47402278-chr11:47408307..47410990,2	MCF-7	breast:
22	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
23	chr11:47397121..47400538-chr11:47420513..47424481,4	K562	blood:
24	chr11:47437766..47440178-chr11:47611290..47614195,2	K562	blood:
25	chr1:28974918..28975540-chr11:47429914..47430569,2	Hela-S3	cervix:
26	chr11:47398113..47400151-chr11:47419730..47422644,3	K562	blood:
27	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
28	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
29	chr11:47429517..47430375-chr18:3603544..3604176,2	Hela-S3	cervix:
30	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
31	chr11:47404462..47406012-chr11:47414080..47416548,2	K562	blood:
32	chr11:47412158..47414151-chr11:47433549..47435793,2	MCF-7	breast:
33	chr11:47430075..47430624-chrX:153626608..153627108,2	Hela-S3	cervix:
34	chr11:47439065..47440854-chr11:47490172..47492482,2	K562	blood:
35	chr11:47439354..47441139-chr11:47490982..47492763,2	K562	blood:
36	chr11:47429863..47430413-chr14:77786891..77787619,2	HCT-116	colon:
37	chr11:47424739..47426733-chr11:47427797..47429784,2	K562	blood:
38	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
39	chr11:47404760..47406669-chr11:47411332..47413231,2	K562	blood:
40	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
41	chr11:47412848..47414613-chr11:47424620..47426609,2	K562	blood:
42	chr11:47404760..47406669-chr11:47411332..47413231,2	K562	blood:
43	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:
44	chr11:47236484..47238469-chr11:47432322..47435260,2	MCF-7	breast:
45	chr11:47413050..47415602-chr11:47418934..47421513,3	MCF-7	breast:
46	chr11:47429488..47430177-chr12:56367583..56368255,2	HCT-116	colon:
47	chr1:247373611..247374330-chr11:47429734..47430575,2	Hela-S3	cervix:
48	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
49	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
50	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPI1-1	chr11:47405095-47405383	ENSG00000255197.1
2	lnc-SPI1-1	chr11:47404699-47405383	ENSG00000255197.1
3	lnc-SPI1-1	chr11:47417041-47417128	ENSG00000255197.1
4	lnc-SPI1-1	chr11:47404800-47405383	ENSG00000255197.1
5	lnc-SPI1-1	chr11:47430503-47430643	ENSG00000255197.1
6	lnc-MADD-4	chr11:47436328-47436646	NONHSAT021242
7	lnc-SLC39A13-1	chr11:47413462-47413795	NONHSAT021240
8	lnc-SPI1-1	chr11:47427061-47427098	ENSG00000255197.1
9	lnc-PSMC3-1	chr11:47437352-47438047	NONHSAT021244
10	lnc-SPI1-1	chr11:47427061-47427098	ENSG00000255197.1
11	lnc-SPI1-1	chr11:47430503-47430741	ENSG00000255197.1
12	lnc-SLC39A13-1	chr11:47414501-47414644	NONHSAT021240
13	lnc-SPI1-1	chr11:47417041-47417191	ENSG00000255197.1
14	lnc-MADD-4	chr11:47435847-47436026	NONHSAT021242

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4487	chr11:47422574-47422592	MIMAT0019021

No data

Variant related genes	Relation type
ENSG00000265910	TF binding region
SPI1	TF binding region
MIR4487	TF binding region
ENSG00000255197	TF binding region
SLC39A13	TF binding region
ENSG00000265910	CpG island
SPI1	CpG island
MIR4487	CpG island
ENSG00000255197	CpG island
SLC39A13	CpG island
ENSG00000255197	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000123444	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000110536	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000213619	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000100577	chromatin interactions
ENSG00000165917	chromatin interactions
ENSG00000111540	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000134574	chromatin interactions
ENSG00000149187	chromatin interactions
ENSG00000265910	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000264583	chromatin interactions
ENSG00000231880	chromatin interactions
ENSG00000124225	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000262001	chromatin interactions
ENSG00000256746	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000118689	chromatin interactions
ENSG00000009830	chromatin interactions
ENSG00000172247	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000109920	chromatin interactions

Extended variants
information (count: 1422 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1422 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527250873	chr11:47404138-47404139	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540612100	chr11:47404154-47404155	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564070740	chr11:47404190-47404191	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533033460	chr11:47404199-47404200	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141495826	chr11:47404208-47404209	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545280203	chr11:47404276-47404277	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529618625	chr11:47404284-47404285	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11828339	chr11:47404314-47404315	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs373940935	chr11:47404336-47404337	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569987620	chr11:47404347-47404348	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566368723	chr11:47404438-47404439	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145457899	chr11:47404439-47404440	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34886228	chr11:47404458-47404459	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76722021	chr11:47404559-47404560	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571682883	chr11:47404627-47404628	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375758140	chr11:47404634-47404635	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537516865	chr11:47404643-47404644	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556105121	chr11:47404647-47404648	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369003445	chr11:47404680-47404681	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535623105	chr11:47404681-47404682	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140844771	chr11:47404682-47404683	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535368632	chr11:47404699-47404700	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs555280150	chr11:47404715-47404716	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs572002736	chr11:47404730-47404731	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs34423057	chr11:47404742-47404743	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs540662182	chr11:47404779-47404780	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs191959768	chr11:47404786-47404787	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs577689316	chr11:47404848-47404849	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
29	rs543459794	chr11:47404912-47404913	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
30	rs563741282	chr11:47404913-47404914	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
31	rs529553718	chr11:47404915-47404916	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
32	rs76259315	chr11:47405129-47405130	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
33	rs76310077	chr11:47405140-47405141	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
34	rs111757157	chr11:47405156-47405157	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
35	rs184912345	chr11:47405199-47405200	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
36	rs150136743	chr11:47405203-47405204	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
37	rs138568796	chr11:47405306-47405307	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
38	rs375653017	chr11:47405374-47405375	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
39	rs140430220	chr11:47405377-47405378	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
40	rs551500578	chr11:47405382-47405383	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
41	rs189424107	chr11:47405437-47405438	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13377596	chr11:47405456-47405457	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374970672	chr11:47405500-47405501	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560214573	chr11:47405604-47405605	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192753202	chr11:47405605-47405606	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184228269	chr11:47405606-47405607	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567644063	chr11:47405615-47405616	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574718527	chr11:47405618-47405619	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535310027	chr11:47405632-47405633	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563857208	chr11:47405644-47405645	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2213 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47395200-47410000	Weak transcription	Gastric	stomach
2	chr11:47399400-47404200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:47399800-47404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:47399800-47405000	Weak transcription	Right Atrium	heart
6	chr11:47399800-47405800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:47400000-47404200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:47400000-47410000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:47400000-47415200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:47400000-47416000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
13	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:47400600-47404200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47400600-47409800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:47400800-47404200	Weak transcription	Fetal Thymus	thymus
17	chr11:47401200-47404400	Weak transcription	Primary B cells from cord blood	blood
18	chr11:47401400-47404200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:47401400-47404200	Weak transcription	K562	blood
20	chr11:47402600-47409400	Weak transcription	Esophagus	oesophagus
21	chr11:47403200-47405400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:47403400-47404200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:47403400-47405000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:47403600-47405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:47404000-47404400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:47404000-47404400	Bivalent Enhancer	Placenta	Placenta
27	chr11:47404000-47404600	Enhancers	HUVEC	blood vessel
28	chr11:47404000-47404800	Enhancers	Spleen	Spleen
29	chr11:47404000-47405200	Enhancers	Lung	lung
30	chr11:47404000-47405400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
31	chr11:47404000-47405800	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:47404200-47404400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:47404200-47404400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:47404200-47404800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr11:47404200-47405000	Enhancers	K562	blood
36	chr11:47404200-47405200	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:47404200-47405400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:47404200-47405400	Enhancers	Adipose Nuclei	Adipose
39	chr11:47404400-47405200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47404400-47405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:47404400-47405400	Enhancers	Placenta	Placenta
42	chr11:47404400-47405600	Enhancers	Primary B cells from cord blood	blood
43	chr11:47404400-47412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:47404800-47405400	Genic enhancers	Spleen	Spleen
45	chr11:47404800-47409400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:47405000-47405400	Enhancers	Right Atrium	heart
47	chr11:47405000-47410600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:47405000-47412800	Weak transcription	K562	blood
49	chr11:47405200-47409800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:47405400-47405800	Genic enhancers	Monocytes-CD14+_RO01746	blood

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