Variant report

Variant	nsv897320
Chromosome Location	chr11:46399901-46417815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2158)
CpG islands
(count:2444)
Chromatin interactive
region (count:71)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2158 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:46414212-46414243	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:46402101-46402260	K562	blood:	n/a	n/a
3	ARID3A	chr11:46410987-46411191	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:46413500-46413667	K562	blood:	n/a	n/a
5	ATF2	chr11:46403673-46404035	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:46401888-46402790	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:46402173-46402624	GM12878	blood:	n/a	n/a
8	ATF2	chr11:46400834-46401165	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:46402216-46402605	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr11:46413458-46413670	HepG2	liver:	n/a	n/a
11	ATF3	chr11:46404810-46405028	K562	blood:	n/a	n/a
12	ATF3	chr11:46413265-46413692	K562	blood:	n/a	n/a
13	ATF3	chr11:46401888-46402246	K562	blood:	n/a	n/a
14	BACH1	chr11:46413270-46413556	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:46401422-46401426	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:46402342-46402912	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:46414372-46414560	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:46411133-46411751	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr11:46413978-46414527	A549	lung:	n/a	chr11:46414284-46414297
20	BCL3	chr11:46402126-46402816	GM12878	blood:	n/a	chr11:46402337-46402346 chr11:46402354-46402363
21	BCL3	chr11:46413950-46414527	K562	blood:	n/a	chr11:46414284-46414297
22	BCL3	chr11:46402129-46402691	A549	lung:	n/a	chr11:46402337-46402346 chr11:46402354-46402363
23	BCL3	chr11:46413888-46414538	A549	lung:	n/a	chr11:46414284-46414297 chr11:46414525-46414534
24	BCLAF1	chr11:46410937-46411343	GM12878	blood:	n/a	chr11:46411089-46411102 chr11:46411089-46411098 chr11:46411090-46411103
25	BCLAF1	chr11:46402216-46402717	GM12878	blood:	n/a	chr11:46402337-46402346 chr11:46402354-46402363
26	BCLAF1	chr11:46414043-46414421	GM12878	blood:	n/a	chr11:46414284-46414297
27	BHLHE40	chr11:46410953-46411674	HepG2	liver:	n/a	chr11:46411086-46411102 chr11:46411090-46411106
28	BHLHE40	chr11:46407914-46408499	K562	blood:	n/a	n/a
29	BHLHE40	chr11:46403455-46403934	K562	blood:	n/a	n/a
30	BHLHE40	chr11:46410123-46410504	K562	blood:	n/a	n/a
31	BHLHE40	chr11:46411014-46411705	GM12878	blood:	n/a	chr11:46411086-46411102 chr11:46411090-46411106
32	BHLHE40	chr11:46404853-46404854	K562	blood:	n/a	n/a
33	BHLHE40	chr11:46414066-46414470	GM12878	blood:	n/a	n/a
34	BHLHE40	chr11:46402017-46402399	K562	blood:	n/a	n/a
35	BHLHE40	chr11:46408210-46408581	HepG2	liver:	n/a	n/a
36	BHLHE40	chr11:46410959-46411712	K562	blood:	n/a	chr11:46411086-46411102 chr11:46411090-46411106
37	BHLHE40	chr11:46413374-46413747	K562	blood:	n/a	chr11:46413557-46413573 chr11:46413660-46413676
38	BHLHE40	chr11:46413278-46413376	GM12878	blood:	n/a	chr11:46413308-46413324
39	BHLHE40	chr11:46414073-46414314	HepG2	liver:	n/a	n/a
40	BHLHE40	chr11:46411416-46411657	A549	lung:	n/a	n/a
41	BHLHE40	chr11:46414033-46414451	K562	blood:	n/a	n/a
42	BHLHE40	chr11:46414015-46414443	HepG2	liver:	n/a	n/a
43	BRCA1	chr11:46411058-46411249	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr11:46414192-46414357	HepG2	liver:	n/a	n/a
45	BRCA1	chr11:46411060-46411104	GM12878	blood:	n/a	n/a
46	CBX3	chr11:46403354-46403695	K562	blood:	n/a	n/a
47	CBX3	chr11:46410059-46410513	K562	blood:	n/a	n/a
48	CBX3	chr11:46414161-46414435	K562	blood:	n/a	n/a
49	CBX3	chr11:46414016-46414488	K562	blood:	n/a	n/a
50	CBX3	chr11:46401135-46401556	K562	blood:	n/a	n/a

(count:2444 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46407677-46407727	HCT-116	colon:	n/a
2	chr11:46408270-46408320	GM12892	blood:	n/a
3	chr11:46403416-46403466	AG10803	skin:	n/a
4	chr11:46407677-46407727	AG04449	skin:	fetal
5	chr11:46407677-46407727	HCT-116	colon:	n/a
6	chr11:46408270-46408320	GM12892	blood:	n/a
7	chr11:46403416-46403466	AG10803	skin:	n/a
8	chr11:46407677-46407727	AG04449	skin:	fetal
9	chr11:46414452-46414502	AG04450	lung:	fetal
10	chr11:46402051-46402101	BJ	skin:	n/a
11	chr11:46410953-46411003	Hela-S3	cervix:	n/a
12	chr11:46401702-46401752	A549	lung:	n/a
13	chr11:46411908-46411958	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:46413072-46413122	HRE	kidney:	n/a
15	chr11:46413816-46413866	BJ	skin:	n/a
16	chr11:46403617-46403667	MCF10A-Er-Src	breast:	n/a
17	chr11:46402949-46402999	AG04449	skin:	fetal
18	chr11:46408399-46408449	NH-A	brain:	n/a
19	chr11:46407019-46407069	HRCEpiC	kidney:	n/a
20	chr11:46405046-46405096	SAEC	small airway:	n/a
21	chr11:46402506-46402556	HL-60	blood:	n/a
22	chr11:46402210-46402260	IMR90	lung:	fetal
23	chr11:46403923-46403973	NHDF-neo	bronchial:	n/a
24	chr11:46408270-46408320	GM12878	blood:	n/a
25	chr11:46402051-46402101	H1-hESC	embryonic stem cell:	embryo
26	chr11:46402210-46402260	MCF-7	breast:	n/a
27	chr11:46407116-46407166	LNCaP	prostate:	n/a
28	chr11:46402666-46402716	Jurkat	blood:	n/a
29	chr11:46402548-46402598	ECC-1	luminal epithelium:	n/a
30	chr11:46414452-46414502	GM19239	blood:	n/a
31	chr11:46402210-46402260	HNPCEpiC	eye:	n/a
32	chr11:46405046-46405096	HCF	heart:	n/a
33	chr11:46408262-46408312	NHDF-neo	bronchial:	n/a
34	chr11:46402210-46402260	LNCaP	prostate:	n/a
35	chr11:46414401-46414451	SK-N-SH	brain:	n/a
36	chr11:46401422-46401472	NHBE	bronchial:	n/a
37	chr11:46403409-46403459	PrEC	prostate:	n/a
38	chr11:46414626-46414676	HCF	heart:	n/a
39	chr11:46403087-46403137	HEK293	kidney:	embryo
40	chr11:46410953-46411003	SK-N-MC	brain:	n/a
41	chr11:46407019-46407069	H1-hESC	embryonic stem cell:	embryo
42	chr11:46407019-46407069	NHDF-neo	bronchial:	n/a
43	chr11:46415316-46415366	MCF-7	breast:	n/a
44	chr11:46414401-46414451	HRCEpiC	kidney:	n/a
45	chr11:46414452-46414502	HCM	heart:	n/a
46	chr11:46407019-46407069	PANC-1	pancreas:	n/a
47	chr11:46402051-46402101	SK-N-SH_RA	brain:	n/a
48	chr11:46409428-46409478	U87	brain:	n/a
49	chr11:46401702-46401752	GM12878	blood:	n/a
50	chr11:46405046-46405096	NB4	blood:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:46410960..46411481-chr11:46544032..46544713,2	MCF-7	breast:
2	chr11:46411071..46411872-chr11:46558721..46559635,4	MCF-7	breast:
3	chr11:46391433..46393341-chr11:46403120..46407243,3	MCF-7	breast:
4	chr11:46382914..46384504-chr11:46401158..46403727,3	MCF-7	breast:
5	chr11:46411121..46411885-chr11:46431663..46432191,2	MCF-7	breast:
6	chr11:46413148..46415878-chr11:46416015..46418632,3	MCF-7	breast:
7	chr11:46409244..46409823-chr11:46550686..46551621,2	MCF-7	breast:
8	chr11:46141600..46143492-chr11:46413694..46415670,2	K562	blood:
9	chr11:46412420..46414324-chr11:46511342..46513973,2	K562	blood:
10	chr11:46391583..46394850-chr11:46399666..46402869,4	MCF-7	breast:
11	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:
12	chr11:46258315..46261111-chr11:46410413..46412185,2	K562	blood:
13	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:
14	chr11:46410113..46411901-chr11:46416140..46417772,2	K562	blood:
15	chr11:46410664..46411246-chr11:46550524..46551339,3	MCF-7	breast:
16	chr11:46387017..46391551-chr11:46409922..46414717,7	K562	blood:
17	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
18	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:
19	chr11:46408502..46412876-chr11:46558221..46561633,5	MCF-7	breast:
20	chr11:46404223..46405874-chr6:34202535..34205359,2	K562	blood:
21	chr11:46414393..46416737-chr11:46429746..46431617,2	K562	blood:
22	chr11:46404460..46405392-chr11:46550904..46551508,2	MCF-7	breast:
23	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
24	chr11:46403212..46404191-chr8:23386218..23387002,2	HCT-116	colon:
25	chr11:46382758..46384571-chr11:46413597..46415273,2	K562	blood:
26	chr11:46316878..46318719-chr11:46403768..46406390,2	K562	blood:
27	chr11:46406341..46408409-chr11:46409553..46411751,2	MCF-7	breast:
28	chr11:46373454..46374263-chr11:46410665..46411382,2	MCF-7	breast:
29	chr11:46368921..46370887-chr11:46401609..46403776,2	MCF-7	breast:
30	chr11:46404448..46405323-chr11:46559050..46559932,2	K562	blood:
31	chr11:46385451..46387272-chr11:46410071..46412680,2	MCF-7	breast:
32	chr11:46389075..46389843-chr11:46400385..46401154,2	K562	blood:
33	chr11:46368811..46369374-chr11:46413272..46414228,2	K562	blood:
34	chr11:46412693..46415235-chr11:46560575..46563535,2	K562	blood:
35	chr11:46369976..46372560-chr11:46412510..46415040,2	K562	blood:
36	chr11:46410113..46411901-chr11:46416140..46417772,2	K562	blood:
37	chr11:46390741..46391631-chr11:46413418..46414279,3	MCF-7	breast:
38	chr11:46401089..46404766-chr11:46549861..46553085,3	K562	blood:
39	chr11:46411065..46412828-chr11:46420913..46422705,2	MCF-7	breast:
40	chr11:46411368..46413095-chr11:46560357..46561913,2	MCF-7	breast:
41	chr11:46405206..46407245-chr11:46550618..46552285,2	K562	blood:
42	chr11:46411875..46413800-chr11:46711035..46713879,2	K562	blood:
43	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
44	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:
45	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
46	chr11:46412620..46414193-chr11:46559693..46562075,2	K562	blood:
47	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:
48	chr11:46404830..46405368-chr11:46550578..46551221,2	MCF-7	breast:
49	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
50	chr11:46410711..46411589-chr11:46550552..46551544,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MDK-2	chr11:46400007-46400477	NONHSAT021173

No data

Variant related genes	Relation type
MDK	TF binding region
CHRM4	TF binding region
MDK	CpG island
CHRM4	CpG island
ENSG00000175224	chromatin interactions
ENSG00000264102	chromatin interactions
ENSG00000180210	chromatin interactions
ENSG00000147454	chromatin interactions
ENSG00000110497	chromatin interactions
ENSG00000180423	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000254639	chromatin interactions
ENSG00000180720	chromatin interactions
ENSG00000110492	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000135365	chromatin interactions
ENSG00000149091	chromatin interactions

Extended variants
information (count: 674 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11038880	chr11:46399901-46399902	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116227656	chr11:46399915-46399916	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs368629184	chr11:46399928-46399929	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs374018594	chr11:46399955-46399956	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs371536427	chr11:46399959-46399960	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs199549907	chr11:46399973-46399974	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs200489928	chr11:46399974-46399975	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs374438025	chr11:46399988-46399989	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs202186891	chr11:46399990-46399991	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs377041756	chr11:46399994-46399995	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs200519115	chr11:46400000-46400001	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs544040980	chr11:46400001-46400002	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs142463622	chr11:46400041-46400042	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs560736568	chr11:46400042-46400043	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs370171517	chr11:46400046-46400047	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs374796626	chr11:46400073-46400074	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs368086092	chr11:46400093-46400094	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs372048533	chr11:46400097-46400098	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs185310252	chr11:46400099-46400100	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs540304111	chr11:46400108-46400109	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs139662183	chr11:46400150-46400151	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs532364214	chr11:46400163-46400164	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs552839258	chr11:46400165-46400166	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs142015463	chr11:46400192-46400193	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs11827909	chr11:46400258-46400259	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538861964	chr11:46400274-46400275	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs118085099	chr11:46400281-46400282	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs76614572	chr11:46400357-46400358	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs150701212	chr11:46400406-46400407	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs116789080	chr11:46400411-46400412	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs566463578	chr11:46400446-46400447	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs374051540	chr11:46400525-46400526	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs367894766	chr11:46400533-46400534	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs146351680	chr11:46400550-46400551	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148565335	chr11:46400567-46400568	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs538300752	chr11:46400581-46400582	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs368223472	chr11:46400585-46400586	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs558512772	chr11:46400595-46400596	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs575190141	chr11:46400596-46400597	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs142962841	chr11:46400600-46400601	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs150701645	chr11:46400608-46400609	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs61752935	chr11:46400632-46400633	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs372859164	chr11:46400643-46400644	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375752151	chr11:46400712-46400713	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370035919	chr11:46400714-46400715	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs371402345	chr11:46400720-46400721	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs3832760	chr11:46400751-46400752	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs3832759	chr11:46400752-46400753	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs190799029	chr11:46400757-46400758	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs573273460	chr11:46400775-46400776	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1996 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
2	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
3	chr11:46385400-46401200	Strong transcription	Dnd41	blood
4	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
5	chr11:46388600-46400200	Strong transcription	Gastric	stomach
6	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
8	chr11:46389400-46400200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:46389400-46400400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:46389400-46401400	Strong transcription	Primary T cells from cord blood	blood
11	chr11:46389600-46400200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:46389600-46400200	Strong transcription	Liver	Liver
13	chr11:46389600-46400200	Strong transcription	Left Ventricle	heart
14	chr11:46389600-46400200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:46389600-46400400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:46389600-46400400	Strong transcription	Adipose Nuclei	Adipose
17	chr11:46389600-46400400	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:46389600-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:46389600-46401800	Weak transcription	Stomach Mucosa	stomach
20	chr11:46389800-46400000	Strong transcription	Pancreas	Pancrea
21	chr11:46389800-46400200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:46389800-46400200	Strong transcription	Brain Cingulate Gyrus	brain
23	chr11:46389800-46400600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:46389800-46401000	Strong transcription	Fetal Thymus	thymus
25	chr11:46390000-46400000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:46390200-46400000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:46390200-46400400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:46390200-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:46391000-46402000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:46391200-46400400	Strong transcription	Fetal Brain Female	brain
31	chr11:46391400-46400400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:46391400-46400600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:46391400-46402200	Weak transcription	NH-A	brain
34	chr11:46391600-46400200	Strong transcription	Brain Germinal Matrix	brain
35	chr11:46391600-46400200	Strong transcription	NHLF	lung
36	chr11:46391600-46400400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:46391600-46400600	Weak transcription	Hela-S3	cervix
38	chr11:46391600-46400800	Weak transcription	K562	blood
39	chr11:46391800-46400000	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:46391800-46400200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:46391800-46400400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:46391800-46400400	Strong transcription	Lung	lung
43	chr11:46391800-46400600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:46391800-46400600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:46391800-46400600	Strong transcription	Placenta	Placenta
46	chr11:46391800-46402200	Weak transcription	HSMM	muscle
47	chr11:46392000-46400400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:46392000-46401400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:46392200-46400400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:46393000-46400400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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