Variant report

Variant	nsv1037724
Chromosome Location	chr11:77061945-77250391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:77185329-77185566	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:77107301-77107688	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:77170254-77170748	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:77118625-77118915	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:77219267-77219422	HepG2	liver:	n/a	n/a
6	ATF1	chr11:77184998-77186000	K562	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
7	ATF1	chr11:77135729-77135935	K562	blood:	n/a	n/a
8	ATF2	chr11:77185230-77185826	H1-hESC	embryonic stem cell:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
9	ATF2	chr11:77167988-77168362	GM12878	blood:	n/a	n/a
10	ATF2	chr11:77167872-77168408	GM12878	blood:	n/a	n/a
11	ATF2	chr11:77185134-77185828	H1-hESC	embryonic stem cell:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
12	ATF2	chr11:77129131-77129901	GM12878	blood:	n/a	n/a
13	ATF2	chr11:77184874-77185768	GM12878	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
14	ATF2	chr11:77159793-77160511	GM12878	blood:	n/a	n/a
15	ATF2	chr11:77122853-77123401	GM12878	blood:	n/a	n/a
16	ATF2	chr11:77181466-77181971	GM12878	blood:	n/a	n/a
17	ATF2	chr11:77159415-77160622	GM12878	blood:	n/a	n/a
18	ATF2	chr11:77185213-77185769	GM12878	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
19	ATF3	chr11:77185259-77185667	H1-hESC	embryonic stem cell:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
20	ATF3	chr11:77185290-77185620	H1-hESC	embryonic stem cell:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
21	ATF3	chr11:77185237-77185581	K562	blood:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
22	ATF3	chr11:77185172-77185591	A549	lung:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
23	ATF3	chr11:77185231-77185664	K562	blood:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
24	BACH1	chr11:77184533-77185487	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr11:77074571-77074575	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr11:77167984-77168257	GM12878	blood:	n/a	n/a
27	BATF	chr11:77185278-77185553	GM12878	blood:	n/a	chr11:77185392-77185405 chr11:77185444-77185457
28	BATF	chr11:77142966-77143164	GM12878	blood:	n/a	n/a
29	BATF	chr11:77153781-77154012	GM12878	blood:	n/a	n/a
30	BATF	chr11:77185269-77185599	GM12878	blood:	n/a	chr11:77185392-77185405 chr11:77185444-77185457
31	BATF	chr11:77160083-77160427	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:77160088-77160359	GM12878	blood:	n/a	chr11:77160179-77160188
33	BCL11A	chr11:77185234-77185605	GM12878	blood:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
34	BCL11A	chr11:77159992-77160409	GM12878	blood:	n/a	chr11:77160179-77160188
35	BCL3	chr11:77160014-77160428	GM12878	blood:	n/a	chr11:77160179-77160188
36	BCL3	chr11:77185168-77185728	A549	lung:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
37	BCLAF1	chr11:77159907-77160690	GM12878	blood:	n/a	chr11:77160179-77160188
38	BCLAF1	chr11:77122752-77123235	GM12878	blood:	n/a	chr11:77123043-77123052
39	BCLAF1	chr11:77122736-77123230	GM12878	blood:	n/a	chr11:77123043-77123052
40	BCLAF1	chr11:77181348-77181937	GM12878	blood:	n/a	chr11:77181678-77181687 chr11:77181640-77181649
41	BCLAF1	chr11:77185280-77185690	GM12878	blood:	n/a	chr11:77185582-77185591
42	BCLAF1	chr11:77160015-77160475	GM12878	blood:	n/a	chr11:77160179-77160188
43	BCLAF1	chr11:77146899-77147452	GM12878	blood:	n/a	n/a
44	BCLAF1	chr11:77167881-77168387	GM12878	blood:	n/a	n/a
45	BCLAF1	chr11:77185225-77185712	GM12878	blood:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
46	BHLHE40	chr11:77160006-77160635	GM12878	blood:	n/a	n/a
47	BHLHE40	chr11:77184499-77185801	GM12878	blood:	n/a	chr11:77185260-77185276 chr11:77185263-77185279 chr11:77185262-77185278 chr11:77185082-77185098 chr11:77185090-77185106 chr11:77184711-77184727 chr11:77184708-77184724
48	BHLHE40	chr11:77184936-77185693	K562	blood:	n/a	chr11:77185260-77185276 chr11:77185263-77185279 chr11:77185262-77185278 chr11:77185082-77185098 chr11:77185090-77185106
49	BHLHE40	chr11:77122815-77123444	GM12878	blood:	n/a	n/a
50	BHLHE40	chr11:77130676-77130757	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:77093001-77093051	HCT-116	colon:	n/a
2	chr11:77122864-77122914	SKMC	muscle:	n/a
3	chr11:77180550-77180600	PFSK-1	brain:	n/a
4	chr11:77185129-77185179	HRE	kidney:	n/a
5	chr11:77093001-77093051	HCT-116	colon:	n/a
6	chr11:77122864-77122914	SKMC	muscle:	n/a
7	chr11:77180550-77180600	PFSK-1	brain:	n/a
8	chr11:77185129-77185179	HRE	kidney:	n/a
9	chr11:77184194-77184244	SK-N-SH_RA	brain:	n/a
10	chr11:77123331-77123381	HMEC	breast:	n/a
11	chr11:77168514-77168564	HCF	heart:	n/a
12	chr11:77123331-77123381	T-47D	breast:	n/a
13	chr11:77122864-77122914	AG10803	skin:	n/a
14	chr11:77236518-77236568	MCF-7	breast:	n/a
15	chr11:77122506-77122556	GM12891	blood:	n/a
16	chr11:77113232-77113282	NHBE	bronchial:	n/a
17	chr11:77180550-77180600	MCF10A-Er-Src	breast:	n/a
18	chr11:77236518-77236568	NB4	blood:	n/a
19	chr11:77118761-77118811	T-47D	breast:	n/a
20	chr11:77160347-77160397	PANC-1	pancreas:	n/a
21	chr11:77122929-77122979	Jurkat	blood:	n/a
22	chr11:77185127-77185177	HCPEpiC	choroid plexus:	n/a
23	chr11:77160347-77160397	GM06990	blood:	n/a
24	chr11:77122929-77122979	PFSK-1	brain:	n/a
25	chr11:77130019-77130069	HCPEpiC	choroid plexus:	n/a
26	chr11:77184194-77184244	AoSMC	blood vessel:	n/a
27	chr11:77093001-77093051	MCF10A-Er-Src	breast:	n/a
28	chr11:77185670-77185720	GM06990	blood:	n/a
29	chr11:77122839-77122889	SKMC	muscle:	n/a
30	chr11:77113232-77113282	CMK	blood:	n/a
31	chr11:77093001-77093051	GM19239	blood:	n/a
32	chr11:77183438-77183488	HCM	heart:	n/a
33	chr11:77123047-77123097	ProgFib	skin:	n/a
34	chr11:77123331-77123381	SK-N-MC	brain:	n/a
35	chr11:77118761-77118811	LNCaP	prostate:	n/a
36	chr11:77121864-77121914	K562	blood:	n/a
37	chr11:77093001-77093051	MCF-7	breast:	n/a
38	chr11:77185398-77185448	NHBE	bronchial:	n/a
39	chr11:77222962-77223012	HEK293	kidney:	embryo
40	chr11:77185127-77185177	HCT-116	colon:	n/a
41	chr11:77183807-77183857	GM12892	blood:	n/a
42	chr11:77122864-77122914	HepG2	liver:	n/a
43	chr11:77123331-77123381	ProgFib	skin:	n/a
44	chr11:77123047-77123097	HUVEC	blood vessel:	n/a
45	chr11:77236518-77236568	GM12892	blood:	n/a
46	chr11:77122839-77122889	U87	brain:	n/a
47	chr11:77118761-77118811	ECC-1	luminal epithelium:	n/a
48	chr11:77125157-77125207	SK-N-SH_RA	brain:	n/a
49	chr11:77185670-77185720	Hela-S3	cervix:	n/a
50	chr11:77122839-77122889	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
2	chr11:77177499..77180436-chr11:77182683..77185678,3	K562	blood:
3	chr11:77168519..77171597-chr11:77180665..77182753,3	MCF-7	breast:
4	chr11:77184637..77185143-chr11:77330427..77330941,2	MCF-7	breast:
5	chr11:77148181..77150043-chr11:77181662..77183504,2	MCF-7	breast:
6	chr11:77221408..77223531-chr11:77224188..77226566,2	MCF-7	breast:
7	chr11:77081708..77083862-chr11:77084179..77086805,3	MCF-7	breast:
8	chr11:77061558..77064270-chr11:77069023..77071192,2	MCF-7	breast:
9	chr11:76906391..76907428-chr11:77080845..77082151,7	MCF-7	breast:
10	chr11:77152849..77154462-chr11:77154943..77156730,2	MCF-7	breast:
11	chr11:77123513..77125266-chr11:77129067..77130720,2	K562	blood:
12	chr11:77170599..77173535-chr11:77182172..77184556,2	K562	blood:
13	chr11:77152118..77154292-chr11:77158488..77160504,2	MCF-7	breast:
14	chr11:77140271..77141778-chr11:77152557..77155185,2	MCF-7	breast:
15	chr11:77084887..77088500-chr11:77089693..77092767,3	MCF-7	breast:
16	chr11:77111729..77114389-chr11:77123441..77126000,2	MCF-7	breast:
17	chr11:77184882..77185407-chr2:10587988..10588765,2	HCT-116	colon:
18	chr11:77168519..77171597-chr11:77180665..77182753,3	MCF-7	breast:
19	chr11:77080789..77082811-chr11:77088019..77090076,2	MCF-7	breast:
20	chr11:77152849..77154462-chr11:77154943..77156730,2	MCF-7	breast:
21	chr11:76902781..76903688-chr11:77081021..77082089,5	MCF-7	breast:
22	chr11:76902860..76903731-chr11:77235331..77236081,3	MCF-7	breast:
23	chr11:76954546..76956343-chr11:77129983..77132787,2	K562	blood:
24	chr11:77172481..77174902-chr11:77181213..77184183,2	MCF-7	breast:
25	chr11:77184360..77186590-chr11:77204918..77206871,2	MCF-7	breast:
26	chr11:77183362..77184933-chr11:77243528..77245737,2	K562	blood:
27	chr11:77149888..77152231-chr11:77155646..77157419,2	MCF-7	breast:
28	chr11:77182486..77185869-chr11:77221249..77224117,3	MCF-7	breast:
29	chr11:77176359..77179298-chr11:77182598..77185560,4	K562	blood:
30	chr11:77243431..77246241-chr11:77247277..77249571,2	MCF-7	breast:
31	chr11:77109982..77113558-chr11:77117392..77121055,3	K562	blood:
32	chr11:77109982..77113558-chr11:77117392..77121055,3	K562	blood:
33	chr11:77161236..77163004-chr11:77181635..77184038,2	MCF-7	breast:
34	chr11:77136881..77139447-chr11:77141885..77143838,2	MCF-7	breast:
35	chr11:77149888..77152231-chr11:77155646..77157419,2	MCF-7	breast:
36	chr11:77011163..77013583-chr11:77127822..77130720,2	K562	blood:
37	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:
38	chr11:77081708..77083862-chr11:77084179..77086805,3	MCF-7	breast:
39	chr11:77139694..77142653-chr11:77149124..77150876,2	MCF-7	breast:
40	chr11:76906792..76907407-chr11:77235103..77235744,2	MCF-7	breast:
41	chr11:77140271..77141778-chr11:77152557..77155185,2	MCF-7	breast:
42	chr11:77121279..77124216-chr11:77128750..77132079,3	MCF-7	breast:
43	chr11:77172481..77174902-chr11:77181213..77184183,2	MCF-7	breast:
44	chr11:77152118..77154292-chr11:77158488..77160504,2	MCF-7	breast:
45	chr11:77167249..77169051-chr11:77170790..77173301,2	K562	blood:
46	chr11:77055992..77058404-chr11:77059954..77063398,3	K562	blood:
47	chr11:77168629..77170251-chr11:77183087..77185478,2	MCF-7	breast:
48	chr11:77123513..77125266-chr11:77129067..77130720,2	K562	blood:
49	chr11:77136881..77139447-chr11:77141885..77143838,2	MCF-7	breast:
50	chr11:77080789..77082811-chr11:77088019..77090076,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAK1-1	chr11:77185455-77185714	XLOC_009510
2	lnc-AQP11-4	chr11:77184416-77188075	NONHSAT023216
3	lnc-PAK1-1	chr11:77186081-77186106	XLOC_009510
4	lnc-CLNS1A-4	chr11:77208158-77208390	expReg_chr11_7865_-

Variant related genes	Relation type
PAK1	TF binding region
ENSG00000268635	TF binding region
PAK1	CpG island
ENSG00000268635	CpG island
ENSG00000115758	chromatin interactions
ENSG00000268635	chromatin interactions
ENSG00000074201	chromatin interactions
ENSG00000150556	chromatin interactions
ENSG00000149269	chromatin interactions
ENSG00000178795	chromatin interactions

Extended variants
information (count: 5967 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:5967 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559758366	chr11:77061976-77061977	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564546948	chr11:77061995-77061996	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189433361	chr11:77062009-77062010	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182291612	chr11:77062053-77062054	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116221166	chr11:77062075-77062076	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532144828	chr11:77062080-77062081	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17135577	chr11:77062086-77062087	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368394241	chr11:77062100-77062101	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187213941	chr11:77062105-77062106	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537921095	chr11:77062163-77062164	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189031725	chr11:77062168-77062169	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181428072	chr11:77062170-77062171	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533881110	chr11:77062171-77062172	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185816839	chr11:77062209-77062210	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577016189	chr11:77062219-77062220	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs17135578	chr11:77062241-77062242	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs679445	chr11:77062248-77062249	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs139609404	chr11:77062292-77062293	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs477434	chr11:77062336-77062337	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34670155	chr11:77062341-77062342	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs476751	chr11:77062346-77062347	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs476749	chr11:77062348-77062349	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531692022	chr11:77062367-77062368	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544278840	chr11:77062468-77062469	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79219925	chr11:77062541-77062542	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530307239	chr11:77062609-77062610	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527276053	chr11:77062674-77062675	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190226920	chr11:77062683-77062684	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559655977	chr11:77062701-77062702	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143564049	chr11:77062703-77062704	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530351620	chr11:77062741-77062742	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144548492	chr11:77062756-77062757	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532669048	chr11:77062784-77062785	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552233936	chr11:77062787-77062788	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562443361	chr11:77062790-77062791	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs61901808	chr11:77062791-77062792	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368758694	chr11:77062793-77062794	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531476484	chr11:77062794-77062795	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548304218	chr11:77062814-77062815	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570386556	chr11:77062907-77062908	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11389420	chr11:77062925-77062926	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200785923	chr11:77062935-77062936	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368768290	chr11:77062936-77062937	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7118242	chr11:77062945-77062946	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147662720	chr11:77062998-77062999	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551991464	chr11:77063015-77063016	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs541955001	chr11:77063045-77063046	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs580624	chr11:77063086-77063087	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539325872	chr11:77063168-77063169	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183266443	chr11:77063225-77063226	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4131 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77031600-77066400	Weak transcription	Gastric	stomach
5	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
6	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
7	chr11:77032200-77066400	Weak transcription	Lung	lung
8	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:77034400-77086200	Weak transcription	NHLF	lung
11	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:77043400-77066400	Weak transcription	Esophagus	oesophagus
15	chr11:77043400-77072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77043400-77074800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
19	chr11:77043800-77071400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
21	chr11:77044000-77062000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:77044200-77062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:77044200-77075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:77044600-77071600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:77045400-77062200	Strong transcription	GM12878-XiMat	blood
26	chr11:77046200-77077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:77046200-77092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:77047400-77089000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:77047400-77090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:77047800-77063800	Weak transcription	Brain Angular Gyrus	brain
33	chr11:77047800-77066400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:77047800-77066400	Weak transcription	A549	lung
35	chr11:77047800-77075000	Weak transcription	Left Ventricle	heart
36	chr11:77047800-77075600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:77048400-77064000	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:77048600-77066400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:77048600-77069200	Weak transcription	Brain Germinal Matrix	brain
40	chr11:77048600-77070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:77048600-77087800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:77048800-77069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:77050200-77062000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:77050400-77072000	Strong transcription	Primary T cells from cord blood	blood
45	chr11:77052000-77063600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:77052200-77062200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:77052200-77066000	Weak transcription	Aorta	Aorta
48	chr11:77052600-77063800	Weak transcription	Brain Anterior Caudate	brain
49	chr11:77052600-77085600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:77054000-77068200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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