Variant report

Variant	esv2762957
Chromosome Location	chr12:627419-683946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1405)
CpG islands
(count:1833)
Chromatin interactive
region (count:91)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:678984-679257	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:679020-679235	K562	blood:	n/a	n/a
3	ARID3A	chr12:656149-656351	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:683940-684209	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:679768-680039	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:680350-680469	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:663870-664177	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:680752-681018	HepG2	liver:	n/a	n/a
9	ATF1	chr12:671176-671528	K562	blood:	n/a	n/a
10	ATF2	chr12:678874-679276	GM12878	blood:	n/a	n/a
11	ATF2	chr12:678989-679314	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr12:656152-656565	A549	lung:	n/a	n/a
13	ATF3	chr12:679866-681355	A549	lung:	n/a	chr12:680781-680791
14	ATF3	chr12:678790-679794	A549	lung:	n/a	chr12:678982-678996 chr12:679101-679121 chr12:679112-679132
15	ATF3	chr12:656100-656281	K562	blood:	n/a	n/a
16	BACH1	chr12:678940-679700	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr12:678865-682022	A549	lung:	n/a	chr12:679127-679140 chr12:681393-681406 chr12:679785-679794 chr12:679786-679795
18	BCL3	chr12:674699-675009	GM12878	blood:	n/a	n/a
19	BCL3	chr12:680221-681243	A549	lung:	n/a	n/a
20	BCL3	chr12:679552-679814	GM12878	blood:	n/a	chr12:679785-679794 chr12:679786-679795
21	BCLAF1	chr12:656074-656472	GM12878	blood:	n/a	n/a
22	BHLHE40	chr12:682415-682718	K562	blood:	n/a	n/a
23	BHLHE40	chr12:673787-674113	K562	blood:	n/a	n/a
24	BHLHE40	chr12:670943-671605	K562	blood:	n/a	n/a
25	BHLHE40	chr12:678952-679430	K562	blood:	n/a	chr12:679129-679145 chr12:679124-679140
26	BHLHE40	chr12:661701-661984	K562	blood:	n/a	chr12:661801-661822 chr12:661807-661816 chr12:661807-661816 chr12:661805-661818 chr12:661808-661817
27	BHLHE40	chr12:656137-656470	GM12878	blood:	n/a	n/a
28	BHLHE40	chr12:632323-632391	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:670942-671331	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:678915-679506	HepG2	liver:	n/a	chr12:679129-679145 chr12:679124-679140
31	BHLHE40	chr12:656129-656368	K562	blood:	n/a	n/a
32	BRCA1	chr12:656068-656439	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr12:680107-681509	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr12:679657-679883	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr12:678893-679200	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr12:656191-656341	HepG2	liver:	n/a	n/a
37	BRCA1	chr12:671449-671633	GM12878	blood:	n/a	n/a
38	BRCA1	chr12:678926-679124	HepG2	liver:	n/a	n/a
39	CBX3	chr12:641490-641751	K562	blood:	n/a	n/a
40	CBX3	chr12:656098-656486	K562	blood:	n/a	n/a
41	CBX3	chr12:679025-679390	K562	blood:	n/a	n/a
42	CCNT2	chr12:656103-656402	K562	blood:	n/a	n/a
43	CCNT2	chr12:678979-680117	K562	blood:	n/a	chr12:679940-679949 chr12:679320-679329
44	CEBPB	chr12:663829-664195	HepG2	liver:	n/a	chr12:663996-664007
45	CEBPB	chr12:663887-664240	A549	lung:	n/a	chr12:663996-664007
46	CEBPB	chr12:656127-656441	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr12:680301-681179	A549	lung:	n/a	chr12:680793-680804
48	CEBPB	chr12:678998-679222	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr12:680549-681021	MCF-7	breast:	n/a	chr12:680793-680804
50	CEBPB	chr12:631954-632154	HepG2	liver:	n/a	chr12:632053-632064

(count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:656423-656473	SK-N-SH_RA	brain:	n/a
2	chr12:650711-650761	T-47D	breast:	n/a
3	chr12:679900-679950	AG10803	skin:	n/a
4	chr12:656423-656473	SK-N-SH_RA	brain:	n/a
5	chr12:650711-650761	T-47D	breast:	n/a
6	chr12:679900-679950	AG10803	skin:	n/a
7	chr12:655829-655879	T-47D	breast:	n/a
8	chr12:678960-679010	AG09309	skin:	n/a
9	chr12:656703-656753	AoSMC	blood vessel:	n/a
10	chr12:679287-679337	K562	blood:	n/a
11	chr12:674158-674208	HCF	heart:	n/a
12	chr12:656703-656753	HNPCEpiC	eye:	n/a
13	chr12:630892-630942	HEK293	kidney:	embryo
14	chr12:679668-679718	AG09309	skin:	n/a
15	chr12:670892-670942	AG09319	gingival:	n/a
16	chr12:665829-665879	AG04450	lung:	fetal
17	chr12:674158-674208	ovcar-3	ovarian:	n/a
18	chr12:681324-681374	GM19239	blood:	n/a
19	chr12:656726-656776	SK-N-SH	brain:	n/a
20	chr12:670610-670660	T-47D	breast:	n/a
21	chr12:670712-670762	NH-A	brain:	n/a
22	chr12:679668-679718	ProgFib	skin:	n/a
23	chr12:656757-656807	BJ	skin:	n/a
24	chr12:670974-671024	Hepatocyte	liver:	n/a
25	chr12:670610-670660	ECC-1	luminal epithelium:	n/a
26	chr12:655964-656014	AoSMC	blood vessel:	n/a
27	chr12:656757-656807	K562	blood:	n/a
28	chr12:670520-670570	NHDF-neo	bronchial:	n/a
29	chr12:656726-656776	AoSMC	blood vessel:	n/a
30	chr12:670520-670570	AG10803	skin:	n/a
31	chr12:656423-656473	HRE	kidney:	n/a
32	chr12:630773-630823	HEK293	kidney:	embryo
33	chr12:670974-671024	HRPEpiC	eye:	n/a
34	chr12:681324-681374	ProgFib	skin:	n/a
35	chr12:678960-679010	GM19239	blood:	n/a
36	chr12:679287-679337	HRE	kidney:	n/a
37	chr12:630892-630942	HUVEC	blood vessel:	n/a
38	chr12:656703-656753	Caco-2	colon:	n/a
39	chr12:679900-679950	HNPCEpiC	eye:	n/a
40	chr12:630807-630857	Caco-2	colon:	n/a
41	chr12:665887-665937	AG04449	skin:	fetal
42	chr12:671027-671077	HEEpiC	esophagus:	n/a
43	chr12:658824-658874	K562	blood:	n/a
44	chr12:679099-679149	HCPEpiC	choroid plexus:	n/a
45	chr12:656726-656776	NT2-D1	testis:	n/a
46	chr12:670712-670762	U87	brain:	n/a
47	chr12:679287-679337	HUVEC	blood vessel:	n/a
48	chr12:670712-670762	RPTEC	kidney:	n/a
49	chr12:656703-656753	MCF10A-Er-Src	breast:	n/a
50	chr12:679287-679337	AG09319	gingival:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:682344..685123-chr12:752375..754600,2	K562	blood:
2	chr12:679062..679815-chr12:923017..923659,4	K562	blood:
3	chr12:589171..589964-chr12:633097..633983,2	MCF-7	breast:
4	chr12:679647..681193-chr12:1713500..1715289,2	K562	blood:
5	chr12:669299..670921-chr12:860249..862115,2	MCF-7	breast:
6	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
7	chr12:680435..681253-chr22:39715404..39715910,2	Hela-S3	cervix:
8	chr12:670487..672554-chr12:1137323..1139502,2	K562	blood:
9	chr12:562705..564349-chr12:655693..658061,2	MCF-7	breast:
10	chr12:631879..633874-chr12:643555..645936,2	K562	blood:
11	chr12:675655..677643-chr12:678300..680842,2	MCF-7	breast:
12	chr12:679375..682562-chr12:682805..686123,3	MCF-7	breast:
13	chr12:677202..681860-chr12:682976..687582,7	K562	blood:
14	chr12:643233..646020-chr12:647234..650208,4	K562	blood:
15	chr12:656034..658407-chr12:660278..663078,2	MCF-7	breast:
16	chr12:633000..634118-chr12:680824..681736,4	MCF-7	breast:
17	chr12:561777..563247-chr12:653593..656972,77	MCF-7	breast:
18	chr12:645596..647518-chr12:650603..652175,2	MCF-7	breast:
19	chr12:678953..681132-chr12:682529..685502,2	MCF-7	breast:
20	chr12:622355..623083-chr12:633209..633927,4	MCF-7	breast:
21	chr12:678886..682974-chr12:750258..753718,5	MCF-7	breast:
22	chr12:562112..562967-chr12:655719..656711,9	K562	blood:
23	chr11:99252722..99253222-chr12:681045..681595,2	Hela-S3	cervix:
24	chr12:562205..562756-chr12:650853..651426,2	MCF-7	breast:
25	chr11:68227589..68228344-chr12:680620..681261,2	Hela-S3	cervix:
26	chr12:678953..681132-chr12:682529..685502,2	MCF-7	breast:
27	chr12:678673..679595-chr12:860437..861048,2	K562	blood:
28	chr12:562086..563088-chr12:655521..657408,28	MCF-7	breast:
29	chr12:559544..561291-chr12:645812..647419,2	K562	blood:
30	chr12:645596..647518-chr12:650603..652175,2	MCF-7	breast:
31	chr12:683860..689942-chr12:860112..864025,8	K562	blood:
32	chr12:632266..634936-chr12:638337..639948,2	MCF-7	breast:
33	chr12:671679..673633-chr12:677300..679171,2	K562	blood:
34	chr12:669669..671571-chr12:673749..675392,2	K562	blood:
35	chr12:611154..613945-chr12:632166..635023,2	MCF-7	breast:
36	chr12:622277..623146-chr12:632963..633980,6	MCF-7	breast:
37	chr12:679332..680098-chrX:150565595..150566118,2	Hela-S3	cervix:
38	chr12:563544..564514-chr12:655825..656615,2	MCF-7	breast:
39	chr12:549410..550324-chr12:655836..656812,2	K562	blood:
40	chr12:627385..629195-chr12:632325..634029,2	K562	blood:
41	chr12:680029..685123-chr12:750606..754600,5	K562	blood:
42	chr12:677202..681860-chr12:682976..687582,7	K562	blood:
43	chr12:562216..562824-chr12:680454..681003,2	MCF-7	breast:
44	chr12:683230..686247-chr12:859749..863263,5	MCF-7	breast:
45	chr12:631879..633874-chr12:643555..645936,2	K562	blood:
46	chr12:623934..625776-chr12:628238..630617,2	MCF-7	breast:
47	chr12:633000..634015-chr12:680744..681736,4	MCF-7	breast:
48	chr12:682408..684558-chr12:921412..923532,2	K562	blood:
49	chr12:567922..570491-chr12:654360..656771,2	MCF-7	breast:
50	chr12:561789..563094-chr12:650609..651816,8	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC77-3	chr12:654048-654138	NONHSAT025345
2	lnc-CCDC77-3	chr12:654306-654570	NONHSAT025345
3	lnc-CCDC77-3	chr12:652284-652371	NONHSAT025345
4	lnc-CCDC77-3	chr12:653505-653600	NONHSAT025345
5	lnc-KDM5A-5	chr12:674999-675146	NONHSAT025347
6	lnc-B4GALNT3-4	chr12:682376-682425	l_576_chr12:669260-707688_adipose
7	lnc-B4GALNT3-4	chr12:669261-669464	l_576_chr12:669260-707688_adipose

No data

Variant related genes	Relation type
B4GALNT3	TF binding region
B4GALNT3	CpG island
ENSG00000100316	chromatin interactions
ENSG00000072682	chromatin interactions
ENSG00000110075	chromatin interactions
ENSG00000139044	chromatin interactions
ENSG00000267838	chromatin interactions
ENSG00000177406	chromatin interactions
ENSG00000160131	chromatin interactions
ENSG00000171840	chromatin interactions
ENSG00000060237	chromatin interactions

Extended variants
information (count: 2923 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2923 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10047548	chr12:627419-627420	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369580768	chr12:627420-627421	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs10047549	chr12:627438-627439	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374524109	chr12:627447-627448	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187996844	chr12:627454-627455	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191110339	chr12:627458-627459	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs563579324	chr12:627475-627476	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs183905900	chr12:627476-627477	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs10047534	chr12:627478-627479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138186964	chr12:627515-627516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs528167180	chr12:627537-627538	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs546310648	chr12:627565-627566	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs559823340	chr12:627589-627590	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs559484068	chr12:627614-627615	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs114002615	chr12:627634-627635	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs370203963	chr12:627656-627657	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs2286780	chr12:627659-627660	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570323588	chr12:627678-627679	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs373315167	chr12:627700-627701	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs35527562	chr12:627712-627713	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552524189	chr12:627713-627714	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs188424230	chr12:627730-627731	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs535088616	chr12:627758-627759	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs193022429	chr12:627767-627768	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs574638444	chr12:627791-627792	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs56271126	chr12:627805-627806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556918775	chr12:627807-627808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367856304	chr12:627817-627818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184970354	chr12:627834-627835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545806512	chr12:627846-627847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564081537	chr12:627921-627922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114974894	chr12:627932-627933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533967872	chr12:627996-627997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539898447	chr12:628031-628032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561448288	chr12:628048-628049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529000345	chr12:628064-628065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35788371	chr12:628076-628077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2286781	chr12:628090-628091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143129072	chr12:628136-628137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552612943	chr12:628182-628183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570787422	chr12:628184-628185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534079405	chr12:628192-628193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542304921	chr12:628223-628224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148220464	chr12:628233-628234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2286782	chr12:628236-628237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568558521	chr12:628244-628245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535986892	chr12:628265-628266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548746299	chr12:628379-628380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372875667	chr12:628430-628431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375653796	chr12:628438-628439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1933 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:619800-628000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:620200-633200	Weak transcription	NHEK	skin
3	chr12:620400-637600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:620400-638200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:620600-630600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:620600-632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:620600-636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:620600-637800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:620800-648000	Weak transcription	Pancreas	Pancrea
10	chr12:622800-633400	Weak transcription	Gastric	stomach
11	chr12:623000-628800	Weak transcription	Right Atrium	heart
12	chr12:623200-629200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:623200-633200	Weak transcription	Right Ventricle	heart
14	chr12:623400-628400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:625400-630200	Enhancers	Fetal Heart	heart
16	chr12:626000-633400	Weak transcription	Stomach Mucosa	stomach
17	chr12:626600-628000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:626800-627800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:626800-635200	Weak transcription	Aorta	Aorta
20	chr12:627000-628800	Weak transcription	Left Ventricle	heart
21	chr12:627400-627800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr12:627800-628600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:627800-628600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:628000-628200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:628000-628600	Enhancers	Brain Anterior Caudate	brain
26	chr12:628000-628600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr12:628400-629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:628600-629000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:628600-629200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:628600-632000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:628800-629200	Enhancers	Right Atrium	heart
32	chr12:628800-629400	Enhancers	Left Ventricle	heart
33	chr12:629000-629600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr12:629000-630800	Enhancers	Placenta	Placenta
35	chr12:629200-630600	Weak transcription	Right Atrium	heart
36	chr12:629200-630800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:629200-638200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:629400-629800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:629400-630400	Weak transcription	Left Ventricle	heart
40	chr12:629800-632200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:629800-633000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:630200-630400	Flanking Active TSS	Fetal Heart	heart
43	chr12:630400-630600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr12:630400-630800	Enhancers	Fetal Heart	heart
45	chr12:630400-631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:630400-633800	Enhancers	Left Ventricle	heart
47	chr12:630600-631400	Enhancers	Right Atrium	heart
48	chr12:630600-631800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:630800-631600	Genic enhancers	Fetal Heart	heart
50	chr12:631200-631400	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links