Variant report

Variant	nsv1041677
Chromosome Location	chr12:122991478-123114125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1685)
CpG islands
(count:1528)
Chromatin interactive
region (count:116)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123011140-123011906	K562	blood:	n/a	chr12:123011786-123011798
2	ARID3A	chr12:123011109-123012007	HepG2	liver:	n/a	chr12:123011786-123011798
3	ATF1	chr12:123011085-123011943	K562	blood:	n/a	n/a
4	ATF2	chr12:123010934-123011988	GM12878	blood:	n/a	n/a
5	ATF2	chr12:123011009-123012034	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:123013571-123014062	GM12878	blood:	n/a	n/a
7	ATF2	chr12:123010636-123012243	GM12878	blood:	n/a	n/a
8	ATF2	chr12:123010816-123012117	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:123043319-123043679	GM12878	blood:	n/a	n/a
10	ATF3	chr12:123011041-123012140	A549	lung:	n/a	n/a
11	ATF3	chr12:123010835-123012327	A549	lung:	n/a	n/a
12	ATF3	chr12:123011181-123012030	K562	blood:	n/a	n/a
13	ATF3	chr12:123002266-123002709	K562	blood:	n/a	n/a
14	BATF	chr12:123013601-123013950	GM12878	blood:	n/a	n/a
15	BATF	chr12:123013537-123013972	GM12878	blood:	n/a	n/a
16	BATF	chr12:122998602-122998888	GM12878	blood:	n/a	chr12:122998763-122998774
17	BCL3	chr12:123010865-123012191	A549	lung:	n/a	chr12:123011026-123011035
18	BCL3	chr12:123010650-123012597	A549	lung:	n/a	chr12:123011026-123011035
19	BCLAF1	chr12:123010989-123012061	GM12878	blood:	n/a	chr12:123011026-123011035
20	BCLAF1	chr12:123010860-123012068	GM12878	blood:	n/a	chr12:123011026-123011035
21	BCLAF1	chr12:123028994-123029543	GM12878	blood:	n/a	n/a
22	BCLAF1	chr12:123012137-123012854	GM12878	blood:	n/a	n/a
23	BCLAF1	chr12:123030163-123030627	GM12878	blood:	n/a	n/a
24	BCLAF1	chr12:122998471-122998887	GM12878	blood:	n/a	n/a
25	BHLHE40	chr12:123011249-123011878	HepG2	liver:	n/a	n/a
26	BHLHE40	chr12:123011128-123012017	GM12878	blood:	n/a	n/a
27	BHLHE40	chr12:123011223-123012093	K562	blood:	n/a	n/a
28	BHLHE40	chr12:123030576-123030628	GM12878	blood:	n/a	n/a
29	BRCA1	chr12:123011109-123012394	Hela-S3	cervix:	n/a	chr12:123011491-123011500
30	BRCA1	chr12:123011142-123011677	GM12878	blood:	n/a	chr12:123011491-123011500
31	BRCA1	chr12:123011311-123011628	HepG2	liver:	n/a	chr12:123011491-123011500
32	BRCA1	chr12:123010795-123011868	H1-hESC	embryonic stem cell:	n/a	chr12:123011491-123011500
33	BRCA1	chr12:123007607-123007613	H1-hESC	embryonic stem cell:	n/a	n/a
34	CBX3	chr12:123011601-123011962	K562	blood:	n/a	n/a
35	CBX3	chr12:123011026-123012466	K562	blood:	n/a	n/a
36	CCNT2	chr12:123011164-123011945	K562	blood:	n/a	chr12:123011204-123011213
37	CEBPB	chr12:123007874-123008109	HepG2	liver:	n/a	chr12:123008013-123008024
38	CEBPB	chr12:123069052-123069353	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr12:123024410-123024412	K562	blood:	n/a	n/a
40	CEBPB	chr12:123003518-123004358	A549	lung:	n/a	chr12:123004145-123004156
41	CEBPB	chr12:123002291-123002733	K562	blood:	n/a	n/a
42	CEBPB	chr12:123075580-123075896	IMR90	lung:	n/a	n/a
43	CEBPB	chr12:123007892-123008245	MCF-7	breast:	n/a	chr12:123008013-123008024
44	CEBPB	chr12:123007900-123008177	K562	blood:	n/a	chr12:123008013-123008024
45	CEBPB	chr12:123075581-123075895	A549	lung:	n/a	n/a
46	CEBPB	chr12:123054937-123054981	IMR90	lung:	n/a	n/a
47	CEBPB	chr12:123010579-123010962	Hela-S3	cervix:	n/a	chr12:123010891-123010902
48	CEBPB	chr12:123075612-123075793	K562	blood:	n/a	n/a
49	CEBPB	chr12:123002285-123002746	IMR90	lung:	n/a	n/a
50	CEBPB	chr12:123084405-123084624	HepG2	liver:	n/a	chr12:123084516-123084527

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123076854-123076904	AoSMC	blood vessel:	n/a
2	chr12:123011565-123011615	HEK293	kidney:	embryo
3	chr12:123011538-123011588	Caco-2	colon:	n/a
4	chr12:123076854-123076904	AoSMC	blood vessel:	n/a
5	chr12:123011565-123011615	HEK293	kidney:	embryo
6	chr12:123011538-123011588	Caco-2	colon:	n/a
7	chr12:123011565-123011615	HCT-116	colon:	n/a
8	chr12:123011538-123011588	HAEpiC	amniotic membrane:	n/a
9	chr12:123011761-123011811	HRE	kidney:	n/a
10	chr12:123011906-123011956	IMR90	lung:	fetal
11	chr12:123011906-123011956	Caco-2	colon:	n/a
12	chr12:123011310-123011360	ProgFib	skin:	n/a
13	chr12:123011589-123011639	BJ	skin:	n/a
14	chr12:123077350-123077400	HRCEpiC	kidney:	n/a
15	chr12:123011730-123011780	NT2-D1	testis:	n/a
16	chr12:123011764-123011814	HCF	heart:	n/a
17	chr12:123011310-123011360	K562	blood:	n/a
18	chr12:123011764-123011814	HAEpiC	amniotic membrane:	n/a
19	chr12:123011761-123011811	SK-N-MC	brain:	n/a
20	chr12:123011761-123011811	GM19239	blood:	n/a
21	chr12:123011589-123011639	HIPEpiC	eye:	n/a
22	chr12:123011757-123011807	AG09319	gingival:	n/a
23	chr12:123011533-123011583	HRE	kidney:	n/a
24	chr12:123011691-123011741	GM19239	blood:	n/a
25	chr12:123011757-123011807	MCF10A-Er-Src	breast:	n/a
26	chr12:123011906-123011956	SAEC	small airway:	n/a
27	chr12:123001911-123001961	HIPEpiC	eye:	n/a
28	chr12:123011310-123011360	GM12891	blood:	n/a
29	chr12:123077521-123077571	ovcar-3	ovarian:	n/a
30	chr12:123009494-123009544	ECC-1	luminal epithelium:	n/a
31	chr12:123011565-123011615	SAEC	small airway:	n/a
32	chr12:123011589-123011639	AoSMC	blood vessel:	n/a
33	chr12:123001911-123001961	GM12891	blood:	n/a
34	chr12:123007555-123007605	HUVEC	blood vessel:	n/a
35	chr12:123009494-123009544	PrEC	prostate:	n/a
36	chr12:123077521-123077571	Hepatocyte	liver:	n/a
37	chr12:123011533-123011583	GM12878	blood:	n/a
38	chr12:123076854-123076904	A549	lung:	n/a
39	chr12:123011833-123011883	AoSMC	blood vessel:	n/a
40	chr12:123077350-123077400	SK-N-SH_RA	brain:	n/a
41	chr12:123011730-123011780	LNCaP	prostate:	n/a
42	chr12:123015313-123015363	HCF	heart:	n/a
43	chr12:123058028-123058078	HUVEC	blood vessel:	n/a
44	chr12:123012351-123012401	GM19239	blood:	n/a
45	chr12:123007555-123007605	MCF10A-Er-Src	breast:	n/a
46	chr12:123011589-123011639	ovcar-3	ovarian:	n/a
47	chr12:123001911-123001961	HRCEpiC	kidney:	n/a
48	chr12:123001840-123001890	NHBE	bronchial:	n/a
49	chr12:123011565-123011615	RPTEC	kidney:	n/a
50	chr12:123011833-123011883	NT2-D1	testis:	n/a

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:123081153..123083342-chr12:123085187..123087941,2	K562	blood:
2	chr12:123018583..123020922-chr12:123025836..123027739,2	MCF-7	breast:
3	chr12:123010775..123011709-chr16:75285031..75285546,2	Hela-S3	cervix:
4	chr12:123010329..123013125-chr12:123046690..123050280,3	MCF-7	breast:
5	chr12:123010983..123011898-chr20:60640792..60641486,2	Hela-S3	cervix:
6	chr12:123020456..123023413-chr12:123028957..123031588,2	K562	blood:
7	chr12:122883532..122886049-chr12:123009837..123012984,6	K562	blood:
8	chr12:123011807..123016958-chr12:123025504..123030876,9	K562	blood:
9	chr12:51477140..51477814-chr12:123011264..123011766,2	Hela-S3	cervix:
10	chr12:123009714..123012123-chr12:123071284..123073590,2	MCF-7	breast:
11	chr12:123057416..123060886-chr12:123062494..123065282,3	K562	blood:
12	chr12:122750925..122753898-chr12:123011768..123013408,2	MCF-7	breast:
13	chr12:123078659..123081368-chr12:123242413..123244541,2	K562	blood:
14	chr12:123011096..123011667-chr20:33103981..33104584,2	Hela-S3	cervix:
15	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
16	chr12:123011046..123011730-chr2:26256121..26257047,2	Hela-S3	cervix:
17	chr12:123022255..123025463-chr12:123027947..123030423,3	MCF-7	breast:
18	chr12:123020456..123023413-chr12:123028957..123031588,2	K562	blood:
19	chr12:123011230..123012154-chr17:37025913..37026423,2	Hela-S3	cervix:
20	chr12:123009641..123013041-chr12:123093053..123097873,6	MCF-7	breast:
21	chr12:123011130..123011798-chr7:27778729..27779635,2	Hela-S3	cervix:
22	chr12:123049783..123051932-chr12:123063399..123064990,2	K562	blood:
23	chr12:123051329..123054245-chr12:123055690..123057481,2	K562	blood:
24	chr1:36689861..36690439-chr12:123011903..123012751,2	Hela-S3	cervix:
25	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
26	chr12:122882637..122886040-chr12:123010001..123012682,3	MCF-7	breast:
27	chr11:63741894..63742574-chr12:123011258..123012213,2	Hela-S3	cervix:
28	chr12:122880014..122886193-chr12:123009799..123012848,10	K562	blood:
29	chr12:122985118..122985687-chr12:123011078..123011604,2	Hela-S3	cervix:
30	chr12:123009242..123011639-chr12:123463173..123465225,2	K562	blood:
31	chr12:123027377..123029468-chr12:123032160..123034262,2	K562	blood:
32	chr12:123011591..123012143-chr16:103058..103696,2	Hela-S3	cervix:
33	chr12:123075043..123077747-chr12:123078360..123080361,2	MCF-7	breast:
34	chr12:123090550..123092852-chr12:123092994..123095325,2	MCF-7	breast:
35	chr12:122984970..122986643-chr12:123016494..123019420,2	MCF-7	breast:
36	chr12:123011094..123011689-chr16:77225072..77225582,2	Hela-S3	cervix:
37	chr12:123010884..123011687-chr3:113557598..113558313,2	Hela-S3	cervix:
38	chr12:123027377..123029468-chr12:123032160..123034262,2	K562	blood:
39	chr12:123102899..123104754-chr12:123108020..123109797,2	K562	blood:
40	chr12:123005842..123008552-chr12:123052325..123054173,2	K562	blood:
41	chr12:123010150..123011921-chr12:123236546..123238778,2	MCF-7	breast:
42	chr12:123011807..123016958-chr12:123025504..123030876,9	K562	blood:
43	chr12:122709233..122712275-chr12:123010129..123013029,3	K562	blood:
44	chr12:122880690..122882401-chr12:123012980..123014769,2	K562	blood:
45	chr12:123011248..123012077-chr12:125399846..125400553,2	Hela-S3	cervix:
46	chr12:122966266..122967783-chr12:123009497..123012466,2	MCF-7	breast:
47	chr12:123011005..123011581-chr5:175874453..175875045,2	Hela-S3	cervix:
48	chr12:123094528..123096969-chr12:123098267..123101095,2	K562	blood:
49	chr1:161102012..161102644-chr12:123011044..123011725,2	Hela-S3	cervix:
50	chr12:123011300..123013199-chr12:123092226..123093846,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255972	TF binding region
RSRC2	TF binding region
KNTC1	TF binding region
ENSG00000255972	CpG island
RSRC2	CpG island
KNTC1	CpG island
ENSG00000084733	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000257097	chromatin interactions
ENSG00000167699	chromatin interactions
ENSG00000257815	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000161980	chromatin interactions
ENSG00000197980	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000135378	chromatin interactions
ENSG00000165490	chromatin interactions
ENSG00000212237	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000256861	chromatin interactions
ENSG00000139726	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000171861	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000112237	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000139719	chromatin interactions
ENSG00000111596	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000002834	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000113194	chromatin interactions
ENSG00000130779	chromatin interactions
ENSG00000214760	chromatin interactions
ENSG00000178075	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000137509	chromatin interactions
ENSG00000255972	chromatin interactions
ENSG00000103111	chromatin interactions
ENSG00000125971	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000054118	chromatin interactions
ENSG00000157306	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000259431	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000136367	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000155463	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000117461	chromatin interactions
ENSG00000168214	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000158796	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000148297	chromatin interactions

Extended variants
information (count: 4998 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:4998 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9988963	chr12:122991478-122991479	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201199947	chr12:122991496-122991497	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566057037	chr12:122991537-122991538	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539880368	chr12:122991539-122991540	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557777899	chr12:122991546-122991547	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368439517	chr12:122991551-122991552	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144251671	chr12:122991552-122991553	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576018781	chr12:122991571-122991572	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114765919	chr12:122991587-122991588	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555619159	chr12:122991620-122991621	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376074139	chr12:122991638-122991639	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574249462	chr12:122991639-122991640	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541282857	chr12:122991651-122991652	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559861024	chr12:122991681-122991682	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572052571	chr12:122991683-122991684	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545909291	chr12:122991781-122991782	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564107368	chr12:122991804-122991805	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572040744	chr12:122991858-122991859	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78863104	chr12:122991926-122991927	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570272123	chr12:122991954-122991955	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10734920	chr12:122991986-122991987	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564166591	chr12:122991990-122991991	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533346760	chr12:122992023-122992024	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376711726	chr12:122992031-122992032	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561984269	chr12:122992043-122992044	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529150362	chr12:122992044-122992045	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200402608	chr12:122992051-122992052	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537626844	chr12:122992052-122992053	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536302938	chr12:122992088-122992089	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565820924	chr12:122992098-122992099	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539589033	chr12:122992104-122992105	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75970337	chr12:122992139-122992140	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200972972	chr12:122992141-122992142	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569744570	chr12:122992143-122992144	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537070951	chr12:122992154-122992155	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555309389	chr12:122992199-122992200	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs137953260	chr12:122992201-122992202	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535280048	chr12:122992248-122992249	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs63636761	chr12:122992265-122992266	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs398021438	chr12:122992281-122992282	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs61956120	chr12:122992283-122992284	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532985103	chr12:122992296-122992297	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553334507	chr12:122992426-122992427	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs578114820	chr12:122992451-122992452	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140902832	chr12:122992536-122992537	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564146082	chr12:122992549-122992550	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368629852	chr12:122992587-122992588	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549942970	chr12:122992593-122992594	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112764595	chr12:122992594-122992595	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553058943	chr12:122992601-122992602	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:3235 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122986000-123001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:122986200-122996800	Weak transcription	Fetal Heart	heart
3	chr12:122986200-123007600	Weak transcription	Right Atrium	heart
4	chr12:122986400-123003200	Strong transcription	Fetal Stomach	stomach
5	chr12:122986400-123007800	Strong transcription	Placenta	Placenta
6	chr12:122986800-122998200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:122986800-123001800	Strong transcription	Osteobl	bone
8	chr12:122986800-123002000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:122986800-123006600	Strong transcription	Brain Germinal Matrix	brain
10	chr12:122986800-123006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:122986800-123007000	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:122986800-123009400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:122987000-123007800	Strong transcription	Fetal Thymus	thymus
14	chr12:122987200-123003200	Strong transcription	Fetal Intestine Small	intestine
15	chr12:122987400-123003000	Strong transcription	Lung	lung
16	chr12:122987400-123006800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr12:122987400-123007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122987400-123007200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:122987400-123007400	Strong transcription	Thymus	Thymus
20	chr12:122987400-123007600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:122987400-123007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122987400-123007800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:122987600-123001000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:122987600-123001800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:122987600-123001800	Strong transcription	NH-A	brain
26	chr12:122987600-123002200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:122987600-123002600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:122987600-123003600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:122987600-123004000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:122987600-123004600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:122987600-123006000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:122987600-123006400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:122987600-123006400	Strong transcription	Liver	Liver
34	chr12:122987600-123006400	Strong transcription	Brain Hippocampus Middle	brain
35	chr12:122987600-123006600	Strong transcription	Primary T cells from cord blood	blood
36	chr12:122987600-123006800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:122987600-123007000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:122987600-123007000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:122987600-123007000	Strong transcription	Fetal Intestine Large	intestine
40	chr12:122987600-123007000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:122987600-123007600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:122987600-123007600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:122987600-123008000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:122987800-122993400	Strong transcription	Brain Angular Gyrus	brain
45	chr12:122987800-122997400	Strong transcription	Gastric	stomach
46	chr12:122987800-122997400	Strong transcription	Psoas Muscle	Psoas
47	chr12:122987800-122998400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:122987800-122999400	Strong transcription	A549	lung
49	chr12:122987800-123001400	Strong transcription	Left Ventricle	heart
50	chr12:122987800-123001600	Strong transcription	NHLF	lung

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