Variant report

Variant	nsv897749
Chromosome Location	chr11:65401748-65420760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1790)
CpG islands
(count:2624)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:1790 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:65403815-65403855	K562	blood:	n/a	n/a
2	ARID3A	chr11:65420509-65421323	HepG2	liver:	n/a	n/a
3	ATF1	chr11:65419291-65419670	K562	blood:	n/a	n/a
4	ATF2	chr11:65405265-65406275	GM12878	blood:	n/a	n/a
5	ATF2	chr11:65406922-65407989	GM12878	blood:	n/a	n/a
6	ATF2	chr11:65420102-65421054	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:65419992-65420844	GM12878	blood:	n/a	n/a
8	ATF2	chr11:65419693-65421079	GM12878	blood:	n/a	n/a
9	ATF2	chr11:65419976-65420704	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr11:65407033-65407464	GM12878	blood:	n/a	n/a
11	ATF3	chr11:65405178-65405560	A549	lung:	n/a	n/a
12	ATF3	chr11:65420126-65420903	A549	lung:	n/a	n/a
13	BACH1	chr11:65403690-65403698	K562	blood:	n/a	n/a
14	BACH1	chr11:65420181-65420358	K562	blood:	n/a	n/a
15	BACH1	chr11:65419958-65420769	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:65405881-65406006	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:65414311-65415087	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr11:65407055-65407416	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:65407656-65408061	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:65407047-65407452	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:65407663-65407958	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:65406995-65407516	GM12878	blood:	n/a	n/a
23	BCL3	chr11:65419711-65421416	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
24	BCL3	chr11:65419810-65420983	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
25	BCL3	chr11:65405219-65406202	A549	lung:	n/a	chr11:65405481-65405494
26	BCL3	chr11:65414561-65414868	A549	lung:	n/a	chr11:65414575-65414584 chr11:65414817-65414830
27	BCL3	chr11:65419863-65420644	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
28	BCL3	chr11:65419906-65421427	A549	lung:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
29	BCL3	chr11:65405338-65406562	GM12878	blood:	n/a	chr11:65405481-65405494 chr11:65406340-65406349
30	BCL3	chr11:65407045-65407424	GM12878	blood:	n/a	n/a
31	BCL3	chr11:65405417-65406285	A549	lung:	n/a	chr11:65405481-65405494
32	BCLAF1	chr11:65419995-65421359	GM12878	blood:	n/a	chr11:65420395-65420404 chr11:65420108-65420117 chr11:65420063-65420076
33	BCLAF1	chr11:65407031-65407756	GM12878	blood:	n/a	n/a
34	BCLAF1	chr11:65420109-65421134	GM12878	blood:	n/a	chr11:65420395-65420404
35	BCLAF1	chr11:65405344-65405991	GM12878	blood:	n/a	chr11:65405481-65405494
36	BCLAF1	chr11:65407022-65408134	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:65405294-65405573	K562	blood:	n/a	n/a
38	BHLHE40	chr11:65419312-65419440	K562	blood:	n/a	n/a
39	BHLHE40	chr11:65405616-65406435	GM12878	blood:	n/a	n/a
40	BHLHE40	chr11:65403577-65403992	K562	blood:	n/a	n/a
41	BHLHE40	chr11:65419779-65420228	K562	blood:	n/a	chr11:65420159-65420175
42	BHLHE40	chr11:65405938-65406242	K562	blood:	n/a	n/a
43	BHLHE40	chr11:65406999-65408049	GM12878	blood:	n/a	n/a
44	BHLHE40	chr11:65419868-65420655	GM12878	blood:	n/a	chr11:65420159-65420175
45	BRCA1	chr11:65420618-65420914	GM12878	blood:	n/a	n/a
46	BRCA1	chr11:65420188-65420735	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr11:65420644-65420936	HepG2	liver:	n/a	n/a
48	BRCA1	chr11:65406104-65406304	GM12878	blood:	n/a	n/a
49	BRCA1	chr11:65407148-65407557	GM12878	blood:	n/a	n/a
50	BRCA1	chr11:65419878-65420416	GM12878	blood:	n/a	n/a

(count:2624 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65405525-65405575	PFSK-1	brain:	n/a
2	chr11:65405525-65405575	PFSK-1	brain:	n/a
3	chr11:65416901-65416951	HEK293	kidney:	embryo
4	chr11:65402736-65402786	NHBE	bronchial:	n/a
5	chr11:65403161-65403211	AG10803	skin:	n/a
6	chr11:65409760-65409810	SK-N-SH_RA	brain:	n/a
7	chr11:65408445-65408495	HRE	kidney:	n/a
8	chr11:65407734-65407784	PANC-1	pancreas:	n/a
9	chr11:65419955-65420005	SAEC	small airway:	n/a
10	chr11:65405484-65405534	AG10803	skin:	n/a
11	chr11:65419955-65420005	NHBE	bronchial:	n/a
12	chr11:65405268-65405318	HL-60	blood:	n/a
13	chr11:65405466-65405516	BJ	skin:	n/a
14	chr11:65403161-65403211	H1-hESC	embryonic stem cell:	embryo
15	chr11:65403161-65403211	HMEC	breast:	n/a
16	chr11:65405351-65405401	SK-N-SH	brain:	n/a
17	chr11:65418265-65418315	HepG2	liver:	n/a
18	chr11:65410028-65410078	MCF-7	breast:	n/a
19	chr11:65405903-65405953	A549	lung:	n/a
20	chr11:65414099-65414149	GM19239	blood:	n/a
21	chr11:65405466-65405516	NH-A	brain:	n/a
22	chr11:65408028-65408078	HCF	heart:	n/a
23	chr11:65414413-65414463	NB4	blood:	n/a
24	chr11:65401703-65401753	HIPEpiC	eye:	n/a
25	chr11:65414261-65414311	HRCEpiC	kidney:	n/a
26	chr11:65412579-65412629	HRCEpiC	kidney:	n/a
27	chr11:65419955-65420005	HRPEpiC	eye:	n/a
28	chr11:65405466-65405516	HCM	heart:	n/a
29	chr11:65401703-65401753	CMK	blood:	n/a
30	chr11:65402736-65402786	HCM	heart:	n/a
31	chr11:65405362-65405412	GM12878	blood:	n/a
32	chr11:65409760-65409810	ECC-1	luminal epithelium:	n/a
33	chr11:65405351-65405401	AG10803	skin:	n/a
34	chr11:65405674-65405724	HMEC	breast:	n/a
35	chr11:65410028-65410078	GM06990	blood:	n/a
36	chr11:65405466-65405516	SK-N-SH_RA	brain:	n/a
37	chr11:65408445-65408495	AG04449	skin:	fetal
38	chr11:65415190-65415240	PFSK-1	brain:	n/a
39	chr11:65401703-65401753	GM06990	blood:	n/a
40	chr11:65405268-65405318	U87	brain:	n/a
41	chr11:65415190-65415240	SAEC	small airway:	n/a
42	chr11:65415190-65415240	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:65405268-65405318	SK-N-SH	brain:	n/a
44	chr11:65418265-65418315	GM19239	blood:	n/a
45	chr11:65402908-65402958	SK-N-SH	brain:	n/a
46	chr11:65408028-65408078	PrEC	prostate:	n/a
47	chr11:65414099-65414149	HEK293	kidney:	embryo
48	chr11:65410028-65410078	HCM	heart:	n/a
49	chr11:65406140-65406190	GM12892	blood:	n/a
50	chr11:65418265-65418315	ovcar-3	ovarian:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
2	chr11:65386206..65389364-chr11:65411627..65413342,3	MCF-7	breast:
3	chr11:65420138..65422811-chr11:65618925..65621188,2	MCF-7	breast:
4	chr11:65264254..65266001-chr11:65419234..65421482,2	MCF-7	breast:
5	chr11:65419136..65421674-chr11:65489039..65492685,3	K562	blood:
6	chr11:65341113..65343723-chr11:65418921..65421708,2	MCF-7	breast:
7	chr11:65408028..65411075-chr11:65624392..65627555,3	K562	blood:
8	chr11:65265497..65267860-chr11:65403489..65405848,3	K562	blood:
9	chr11:65338868..65341730-chr11:65418154..65420257,2	MCF-7	breast:
10	chr11:65420051..65421664-chr11:65448870..65450855,2	K562	blood:
11	chr11:64851522..64853980-chr11:65411333..65413797,2	K562	blood:
12	chr11:65400163..65404871-chr11:65428865..65432129,6	MCF-7	breast:
13	chr11:65341380..65343609-chr11:65408104..65410405,2	MCF-7	breast:
14	chr11:65419749..65421544-chr11:65619429..65621051,2	K562	blood:
15	chr11:65419108..65420817-chr11:65475348..65477969,2	MCF-7	breast:
16	chr11:65406543..65408772-chr19:38780595..38783579,2	MCF-7	breast:
17	chr11:65418268..65419893-chr17:57915136..57916815,2	MCF-7	breast:
18	chr11:65266494..65268379-chr11:65418277..65420125,2	K562	blood:
19	chr11:65419742..65420533-chr11:95523320..95524520,3	Hela-S3	cervix:
20	chr1:67395640..67396470-chr11:65419548..65420158,2	Hela-S3	cervix:
21	chr11:65353979..65355794-chr11:65410374..65412604,2	MCF-7	breast:
22	chr11:65311946..65314284-chr11:65416620..65419973,3	MCF-7	breast:
23	chr11:65411140..65413150-chr11:65624736..65627560,2	MCF-7	breast:
24	chr11:65395794..65396338-chr11:65408470..65409118,2	MCF-7	breast:
25	chr11:65322009..65324491-chr11:65418105..65419642,2	MCF-7	breast:
26	chr11:65408552..65410690-chr11:65624171..65626866,2	K562	blood:
27	chr11:65292040..65294800-chr11:65419748..65421658,2	MCF-7	breast:
28	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
29	chr11:65418221..65420549-chr11:65478098..65480129,3	MCF-7	breast:
30	chr11:65262283..65263978-chr11:65419665..65421629,2	K562	blood:
31	chr11:65391929..65393580-chr11:65420697..65422749,2	MCF-7	breast:
32	chr11:65420713..65423580-chr11:65469656..65472894,3	MCF-7	breast:
33	chr11:65317456..65320108-chr11:65409381..65411829,2	K562	blood:
34	chr11:65419979..65422257-chr11:65486122..65488119,3	K562	blood:
35	chr11:65417859..65419451-chr11:65619864..65621650,2	K562	blood:
36	chr11:65401684..65404221-chr11:65623185..65625956,3	K562	blood:
37	chr11:65420223..65423099-chr11:65666498..65668631,2	MCF-7	breast:
38	chr11:65420227..65422325-chr11:65623884..65626838,3	K562	blood:
39	chr11:65419630..65422273-chr7:151326943..151329514,2	MCF-7	breast:
40	chr11:65381837..65384874-chr11:65408944..65413829,9	MCF-7	breast:
41	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
42	chr11:65399412..65402464-chr11:65478309..65480936,3	MCF-7	breast:
43	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:
44	chr11:65336849..65339116-chr11:65404161..65406035,2	K562	blood:
45	chr11:65418470..65421042-chr11:65625585..65628422,2	MCF-7	breast:
46	chr11:65187300..65188965-chr11:65420277..65421827,2	MCF-7	breast:
47	chr11:65419831..65420335-chr2:211035639..211036479,2	HCT-116	colon:
48	chr11:65394604..65399186-chr11:65411487..65416339,5	MCF-7	breast:
49	chr11:65413332..65415260-chr11:65625154..65627683,2	K562	blood:
50	chr11:65412642..65414860-chr11:65428206..65431618,3	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4690-3p	chr11:65403819-65403839	MIMAT0019780
hsa-miR-4489	chr11:65416668-65416688	MIMAT0019023
hsa-miR-4690-5p	chr11:65403781-65403802	MIMAT0019779

No data

Variant related genes	Relation type
SIPA1	TF binding region
MIR4489	TF binding region
MIR4690	TF binding region
SIPA1	CpG island
MIR4489	CpG island
MIR4690	CpG island
ENSG00000173442	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000198160	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000172922	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000144445	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000255120	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000231294	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000142186	chromatin interactions
ENSG00000106617	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000214160	chromatin interactions
ENSG00000263530	chromatin interactions
ENSG00000260233	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000175550	chromatin interactions

Extended variants
information (count: 795 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111565484	chr11:65401748-65401749	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs143921682	chr11:65401803-65401804	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs75260332	chr11:65401817-65401818	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs369539470	chr11:65401843-65401844	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs538559203	chr11:65401850-65401851	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs372929613	chr11:65401855-65401856	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs199674449	chr11:65402017-65402018	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs376893866	chr11:65402122-65402123	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs117126544	chr11:65402131-65402132	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs369018096	chr11:65402134-65402135	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs540701231	chr11:65402147-65402148	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs372522868	chr11:65402188-65402189	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs540166406	chr11:65402277-65402278	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs375757564	chr11:65402285-65402286	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs573772094	chr11:65402314-65402315	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs542373540	chr11:65402344-65402345	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs562347484	chr11:65402355-65402356	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs531475359	chr11:65402403-65402404	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs377763462	chr11:65402413-65402414	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs370940766	chr11:65402420-65402421	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs369830460	chr11:65402426-65402427	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs141507687	chr11:65402462-65402463	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs564884746	chr11:65402507-65402508	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs376794148	chr11:65402508-65402509	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs370639193	chr11:65402528-65402529	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs374021817	chr11:65402546-65402547	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs527341490	chr11:65402547-65402548	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs547456802	chr11:65402550-65402551	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs367555148	chr11:65402594-65402595	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs567207447	chr11:65402653-65402654	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs556920614	chr11:65402657-65402658	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs150872885	chr11:65402675-65402676	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs201643872	chr11:65402700-65402701	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs374515024	chr11:65402713-65402714	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs368760365	chr11:65402747-65402748	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs569488128	chr11:65402757-65402758	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs71471983	chr11:65402796-65402797	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs371861379	chr11:65402798-65402799	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs375106937	chr11:65402801-65402802	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs369639380	chr11:65402802-65402803	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs371964481	chr11:65402819-65402820	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs375263170	chr11:65402835-65402836	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs369139852	chr11:65402857-65402858	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs200885865	chr11:65402859-65402860	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs200153485	chr11:65402862-65402863	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs533980242	chr11:65402890-65402891	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs370411323	chr11:65402927-65402928	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs369833875	chr11:65402928-65402929	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs374075081	chr11:65402959-65402960	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs374537369	chr11:65402961-65402962	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:2148 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65384400-65402200	Weak transcription	Fetal Kidney	kidney
2	chr11:65384600-65402000	Weak transcription	Psoas Muscle	Psoas
3	chr11:65384800-65404400	Weak transcription	Fetal Heart	heart
4	chr11:65384800-65404600	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr11:65384800-65404600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:65384800-65404600	Strong transcription	Thymus	Thymus
7	chr11:65384800-65404800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:65384800-65404800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:65385000-65404200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:65385000-65404200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:65385000-65404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:65385000-65404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:65385000-65404400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:65385000-65404400	Strong transcription	Fetal Stomach	stomach
15	chr11:65385000-65404600	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr11:65385000-65404600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:65385000-65404800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:65385000-65405000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:65385000-65405000	Strong transcription	Brain Germinal Matrix	brain
20	chr11:65385000-65405000	Strong transcription	Fetal Brain Female	brain
21	chr11:65385000-65405000	Strong transcription	Fetal Intestine Small	intestine
22	chr11:65385200-65402400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:65385200-65403600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:65385200-65403800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:65385200-65403800	Strong transcription	Placenta	Placenta
26	chr11:65385200-65404200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:65385200-65404400	Strong transcription	NHLF	lung
28	chr11:65385200-65404600	Strong transcription	Adipose Nuclei	Adipose
29	chr11:65385200-65404600	Strong transcription	Brain Anterior Caudate	brain
30	chr11:65385200-65404600	Strong transcription	Fetal Intestine Large	intestine
31	chr11:65385200-65404600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:65385200-65404600	Strong transcription	A549	lung
33	chr11:65385200-65404800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:65385200-65404800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:65385200-65404800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:65385400-65404200	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:65385400-65404400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:65385400-65404600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:65385400-65404600	Strong transcription	Fetal Thymus	thymus
40	chr11:65385600-65404600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:65385600-65404800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:65386400-65403800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:65386400-65404400	Strong transcription	GM12878-XiMat	blood
44	chr11:65386800-65403600	Strong transcription	Dnd41	blood
45	chr11:65388200-65402200	Strong transcription	Esophagus	oesophagus
46	chr11:65389600-65404400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:65390400-65404600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:65393800-65403800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:65393800-65404400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:65393800-65404400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links