Variant report

Variant	nsv1067892
Chromosome Location	chr11:67249418-67255234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:956)
CpG islands
(count:976)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:956 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67250656-67250988	K562	blood:	n/a	n/a
2	ARID3A	chr11:67250520-67250884	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:67249949-67250047	HepG2	liver:	n/a	n/a
4	ATF1	chr11:67250338-67250977	K562	blood:	n/a	n/a
5	ATF2	chr11:67249743-67250222	GM12878	blood:	n/a	n/a
6	ATF2	chr11:67251537-67252877	GM12878	blood:	n/a	n/a
7	ATF2	chr11:67253764-67254694	GM12878	blood:	n/a	n/a
8	ATF2	chr11:67255114-67255570	GM12878	blood:	n/a	n/a
9	ATF2	chr11:67255044-67255601	GM12878	blood:	n/a	n/a
10	ATF2	chr11:67250279-67250828	GM12878	blood:	n/a	n/a
11	ATF2	chr11:67250386-67250993	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:67253870-67254812	GM12878	blood:	n/a	n/a
13	ATF3	chr11:67250316-67251116	A549	lung:	n/a	chr11:67250910-67250919
14	ATF3	chr11:67250430-67251046	A549	lung:	n/a	chr11:67250910-67250919
15	BACH1	chr11:67250770-67250852	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr11:67253866-67254740	GM12878	blood:	n/a	n/a
17	BATF	chr11:67249869-67250197	GM12878	blood:	n/a	chr11:67250035-67250045
18	BATF	chr11:67255192-67255514	GM12878	blood:	n/a	n/a
19	BATF	chr11:67254025-67254438	GM12878	blood:	n/a	n/a
20	BATF	chr11:67249729-67250181	GM12878	blood:	n/a	chr11:67250035-67250045
21	BATF	chr11:67255056-67255567	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:67254004-67254731	GM12878	blood:	n/a	chr11:67254371-67254380
23	BCL11A	chr11:67254092-67254489	GM12878	blood:	n/a	chr11:67254371-67254380
24	BCL3	chr11:67255083-67255704	GM12878	blood:	n/a	n/a
25	BCL3	chr11:67250423-67251061	A549	lung:	n/a	chr11:67250423-67250432 chr11:67250910-67250923
26	BCL3	chr11:67254063-67254687	GM12878	blood:	n/a	chr11:67254371-67254380
27	BCL3	chr11:67253970-67254657	GM12878	blood:	n/a	chr11:67254371-67254380
28	BCLAF1	chr11:67250482-67251077	GM12878	blood:	n/a	chr11:67250910-67250923
29	BCLAF1	chr11:67249750-67250369	GM12878	blood:	n/a	chr11:67250033-67250042 chr11:67250034-67250043 chr11:67250242-67250251
30	BCLAF1	chr11:67253881-67254716	GM12878	blood:	n/a	chr11:67254371-67254380
31	BCLAF1	chr11:67251316-67252145	GM12878	blood:	n/a	n/a
32	BCLAF1	chr11:67252162-67252891	GM12878	blood:	n/a	n/a
33	BCLAF1	chr11:67253735-67254791	GM12878	blood:	n/a	chr11:67254371-67254380
34	BHLHE40	chr11:67251386-67252821	GM12878	blood:	n/a	n/a
35	BHLHE40	chr11:67255212-67255409	GM12878	blood:	n/a	n/a
36	BHLHE40	chr11:67253524-67253529	K562	blood:	n/a	n/a
37	BHLHE40	chr11:67250256-67251017	K562	blood:	n/a	n/a
38	BHLHE40	chr11:67250145-67250999	GM12878	blood:	n/a	n/a
39	BHLHE40	chr11:67253390-67254649	GM12878	blood:	n/a	n/a
40	BRCA1	chr11:67250434-67250847	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr11:67254158-67254254	GM12878	blood:	n/a	n/a
42	BRCA1	chr11:67250604-67250733	HepG2	liver:	n/a	n/a
43	BRCA1	chr11:67250107-67250938	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:67250491-67251224	GM12878	blood:	n/a	n/a
45	CBX3	chr11:67250287-67251149	K562	blood:	n/a	n/a
46	CBX3	chr11:67250376-67251041	K562	blood:	n/a	n/a
47	CCNT2	chr11:67250270-67250865	K562	blood:	n/a	n/a
48	CCNT2	chr11:67251927-67251982	K562	blood:	n/a	n/a
49	CEBPB	chr11:67249827-67250506	GM12878	blood:	n/a	n/a
50	CEBPB	chr11:67250383-67250869	Hela-S3	cervix:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67250809-67250859	GM12892	blood:	n/a
2	chr11:67250164-67250214	NHBE	bronchial:	n/a
3	chr11:67251677-67251727	Caco-2	colon:	n/a
4	chr11:67250052-67250102	SK-N-SH	brain:	n/a
5	chr11:67250618-67250668	RPTEC	kidney:	n/a
6	chr11:67254381-67254431	HCM	heart:	n/a
7	chr11:67250443-67250493	PrEC	prostate:	n/a
8	chr11:67250445-67250495	HNPCEpiC	eye:	n/a
9	chr11:67250309-67250359	HCF	heart:	n/a
10	chr11:67250427-67250477	HRE	kidney:	n/a
11	chr11:67250351-67250401	PrEC	prostate:	n/a
12	chr11:67250360-67250410	ovcar-3	ovarian:	n/a
13	chr11:67250585-67250635	ovcar-3	ovarian:	n/a
14	chr11:67250351-67250401	ECC-1	luminal epithelium:	n/a
15	chr11:67250809-67250859	HAEpiC	amniotic membrane:	n/a
16	chr11:67250046-67250096	SK-N-SH	brain:	n/a
17	chr11:67251939-67251989	SK-N-SH	brain:	n/a
18	chr11:67254381-67254431	HCPEpiC	choroid plexus:	n/a
19	chr11:67251677-67251727	HCPEpiC	choroid plexus:	n/a
20	chr11:67250443-67250493	ovcar-3	ovarian:	n/a
21	chr11:67250443-67250493	HEEpiC	esophagus:	n/a
22	chr11:67250809-67250859	SK-N-SH	brain:	n/a
23	chr11:67250164-67250214	HEK293	kidney:	embryo
24	chr11:67251939-67251989	K562	blood:	n/a
25	chr11:67250046-67250096	T-47D	breast:	n/a
26	chr11:67250164-67250214	HUVEC	blood vessel:	n/a
27	chr11:67250046-67250096	PANC-1	pancreas:	n/a
28	chr11:67251154-67251204	MCF-7	breast:	n/a
29	chr11:67250443-67250493	BJ	skin:	n/a
30	chr11:67250164-67250214	Hela-S3	cervix:	n/a
31	chr11:67251154-67251204	AG04450	lung:	fetal
32	chr11:67250427-67250477	HCT-116	colon:	n/a
33	chr11:67250164-67250214	BE2_C	brain:	n/a
34	chr11:67250351-67250401	HEK293	kidney:	embryo
35	chr11:67254381-67254431	HNPCEpiC	eye:	n/a
36	chr11:67250427-67250477	ProgFib	skin:	n/a
37	chr11:67250052-67250102	HEEpiC	esophagus:	n/a
38	chr11:67250445-67250495	GM06990	blood:	n/a
39	chr11:67250445-67250495	BJ	skin:	n/a
40	chr11:67250052-67250102	BJ	skin:	n/a
41	chr11:67250809-67250859	HepG2	liver:	n/a
42	chr11:67250052-67250102	H1-hESC	embryonic stem cell:	embryo
43	chr11:67250309-67250359	HUVEC	blood vessel:	n/a
44	chr11:67250360-67250410	HEK293	kidney:	embryo
45	chr11:67250618-67250668	HCPEpiC	choroid plexus:	n/a
46	chr11:67250360-67250410	NB4	blood:	n/a
47	chr11:67250309-67250359	Jurkat	blood:	n/a
48	chr11:67251939-67251989	GM19239	blood:	n/a
49	chr11:67250360-67250410	AoSMC	blood vessel:	n/a
50	chr11:67250309-67250359	A549	lung:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67121864..67124508-chr11:67250272..67251792,2	K562	blood:
2	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
3	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
4	chr11:67252207..67254745-chr11:67287630..67289973,2	K562	blood:
5	chr11:67201373..67203481-chr11:67248801..67250929,2	MCF-7	breast:
6	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:
7	chr11:67158455..67160000-chr11:67249177..67251202,2	MCF-7	breast:
8	chr11:67252342..67255361-chr11:67262827..67265750,4	MCF-7	breast:
9	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
10	chr11:67207077..67209536-chr11:67252899..67255473,2	K562	blood:
11	chr11:67204772..67206774-chr11:67250564..67253520,2	K562	blood:
12	chr11:67231244..67235869-chr11:67255079..67259378,6	MCF-7	breast:
13	chr11:67250117..67252279-chr11:67255664..67259072,3	MCF-7	breast:
14	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
15	chr11:67253095..67255847-chr16:2577337..2579833,2	MCF-7	breast:
16	chr11:67230622..67232854-chr11:67248914..67251189,3	MCF-7	breast:
17	chr11:67250119..67250751-chr5:43483753..43484361,2	Hela-S3	cervix:
18	chr11:67250658..67253558-chr11:67351233..67353250,2	K562	blood:
19	chr11:67249113..67250802-chr11:67267518..67269287,2	MCF-7	breast:
20	chr11:67205296..67207654-chr11:67248873..67250891,2	MCF-7	breast:
21	chr11:67222200..67224356-chr11:67249381..67251101,2	MCF-7	breast:
22	chr11:67250774..67252740-chr11:67267582..67269484,2	MCF-7	breast:
23	chr11:67250656..67253599-chr11:67256113..67260551,5	K562	blood:
24	chr11:67231198..67233116-chr11:67249356..67252066,3	K562	blood:
25	chr11:67250038..67251911-chr11:67252963..67255145,2	MCF-7	breast:
26	chr11:67078757..67080884-chr11:67248865..67250419,2	MCF-7	breast:
27	chr11:67230145..67233819-chr11:67248914..67252066,4	K562	blood:
28	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:
29	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
30	chr11:67174480..67177168-chr11:67249396..67252040,3	MCF-7	breast:
31	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
32	chr11:67169616..67172754-chr11:67249059..67251001,3	MCF-7	breast:
33	chr11:67119767..67122418-chr11:67248932..67250571,2	MCF-7	breast:
34	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
35	chr11:67250506..67252570-chr11:67374037..67375559,2	K562	blood:
36	chr11:67204772..67206775-chr11:67251398..67253520,2	K562	blood:
37	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
38	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
39	chr11:67168541..67170644-chr11:67250058..67251865,2	MCF-7	breast:
40	chr11:66108355..66110449-chr11:67247650..67250457,2	K562	blood:
41	chr11:67249840..67250624-chr21:40177263..40178201,2	Hela-S3	cervix:
42	chr11:67171679..67173695-chr11:67249098..67251684,2	MCF-7	breast:

No data

Variant related genes	Relation type
AIP	TF binding region
AIP	CpG island
ENSG00000249492	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000162066	chromatin interactions
ENSG00000175544	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000167792	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000213402	chromatin interactions
ENSG00000184224	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538960301	chr11:67249429-67249430	Weak transcription Active TSS Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs573970965	chr11:67249551-67249552	Weak transcription Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs111545360	chr11:67249589-67249590	Weak transcription Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs200878413	chr11:67249612-67249613	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs559599674	chr11:67249638-67249639	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs71457777	chr11:67249694-67249695	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs148149334	chr11:67249740-67249741	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs1638582	chr11:67249760-67249761	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs1638583	chr11:67249778-67249779	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs201681859	chr11:67249801-67249802	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs545399046	chr11:67249810-67249811	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs189761044	chr11:67249814-67249815	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs376631316	chr11:67249818-67249819	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs35580926	chr11:67249827-67249828	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs572726812	chr11:67249903-67249904	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs181072302	chr11:67249911-67249912	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs561186464	chr11:67249959-67249960	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs528758091	chr11:67249999-67250000	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs546931141	chr11:67250050-67250051	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs571919272	chr11:67250053-67250054	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs539030881	chr11:67250103-67250104	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs185280967	chr11:67250127-67250128	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs569632088	chr11:67250139-67250140	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs537181414	chr11:67250142-67250143	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs555595890	chr11:67250144-67250145	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs201817175	chr11:67250231-67250232	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs573831146	chr11:67250232-67250233	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs369010349	chr11:67250289-67250290	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs534818842	chr11:67250307-67250308	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs552956267	chr11:67250324-67250325	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs369752687	chr11:67250329-67250330	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs267606588	chr11:67250360-67250361	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs533817806	chr11:67250368-67250369	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs577889398	chr11:67250409-67250410	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs267606540	chr11:67250410-67250411	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs563736546	chr11:67250431-67250432	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs374248735	chr11:67250443-67250444	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
38	rs575326567	chr11:67250447-67250448	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
39	rs534749495	chr11:67250454-67250455	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
40	rs542760241	chr11:67250462-67250463	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs12271280	chr11:67250464-67250465	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs561050596	chr11:67250470-67250471	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs528624110	chr11:67250521-67250522	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs1049506	chr11:67250544-67250545	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs540839310	chr11:67250546-67250547	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs377565228	chr11:67250553-67250554	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs369451483	chr11:67250573-67250574	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs200665479	chr11:67250607-67250608	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs199681649	chr11:67250617-67250618	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs551077555	chr11:67250618-67250619	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pituitary adenoma	20530095	CNVD

Chromatin state (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67237200-67250200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67237800-67249800	Weak transcription	Lung	lung
3	chr11:67238400-67249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:67242600-67249600	Weak transcription	Liver	Liver
5	chr11:67244600-67249600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:67245800-67249600	Weak transcription	HepG2	liver
7	chr11:67249200-67249800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:67249200-67249800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:67249200-67249800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:67249200-67249800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:67249200-67249800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:67249200-67249800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:67249200-67249800	Enhancers	K562	blood
14	chr11:67249200-67250200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:67249200-67250800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:67249400-67249600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr11:67249400-67249800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:67249400-67249800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:67249400-67249800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:67249600-67249800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:67249600-67249800	Enhancers	Primary B cells from cord blood	blood
22	chr11:67249600-67249800	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:67249600-67249800	Enhancers	Primary T cells from cord blood	blood
24	chr11:67249600-67249800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:67249600-67249800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:67249600-67249800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:67249600-67249800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:67249600-67249800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:67249600-67249800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:67249600-67249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:67249600-67249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:67249600-67249800	Enhancers	Liver	Liver
33	chr11:67249600-67249800	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:67249600-67249800	Enhancers	Fetal Thymus	thymus
35	chr11:67249600-67249800	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:67249600-67249800	Enhancers	Dnd41	blood
37	chr11:67249600-67249800	Enhancers	Hela-S3	cervix
38	chr11:67249600-67249800	Enhancers	HepG2	liver
39	chr11:67249600-67250200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:67249800-67250000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:67249800-67250000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:67249800-67250000	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:67249800-67250000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:67249800-67250000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:67249800-67250000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:67249800-67250000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:67249800-67250000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:67249800-67250000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:67249800-67250000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:67249800-67250000	Flanking Active TSS	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links