Variant report

Variant	esv1811815
Chromosome Location	chr12:124374716-124424636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:863)
CpG islands
(count:1531)
Chromatin interactive
region (count:38)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:863 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124379370-124380391	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:124397088-124397355	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:124395591-124395654	HepG2	liver:	n/a	n/a
4	ATF1	chr12:124404059-124404487	K562	blood:	n/a	n/a
5	ATF1	chr12:124419518-124419695	K562	blood:	n/a	n/a
6	ATF3	chr12:124385412-124385566	K562	blood:	n/a	n/a
7	ATF3	chr12:124385336-124385691	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr12:124401273-124401632	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:124416373-124416450	HepG2	liver:	n/a	n/a
10	BHLHE40	chr12:124404167-124404504	K562	blood:	n/a	n/a
11	BHLHE40	chr12:124423298-124423498	K562	blood:	n/a	n/a
12	BRCA1	chr12:124384821-124384855	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr12:124385316-124385710	K562	blood:	n/a	n/a
14	CEBPB	chr12:124389793-124390177	IMR90	lung:	n/a	chr12:124389984-124389995
15	CEBPB	chr12:124377125-124377334	K562	blood:	n/a	chr12:124377225-124377236 chr12:124377225-124377236 chr12:124377223-124377234 chr12:124377223-124377236 chr12:124377220-124377237 chr12:124377223-124377236
16	CEBPB	chr12:124389800-124390188	Hela-S3	cervix:	n/a	chr12:124389984-124389995
17	CEBPB	chr12:124389898-124390096	HepG2	liver:	n/a	chr12:124389984-124389995
18	CEBPB	chr12:124419497-124419700	K562	blood:	n/a	n/a
19	CEBPB	chr12:124380035-124380238	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:124381300-124381676	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:124389816-124390173	A549	lung:	n/a	chr12:124389984-124389995
22	CEBPB	chr12:124411383-124411696	IMR90	lung:	n/a	chr12:124411536-124411547
23	CEBPB	chr12:124389816-124390178	H1-hESC	embryonic stem cell:	n/a	chr12:124389984-124389995
24	CEBPB	chr12:124374797-124374980	K562	blood:	n/a	n/a
25	CEBPB	chr12:124389751-124390130	MCF-7	breast:	n/a	chr12:124389984-124389995
26	CEBPB	chr12:124377116-124377384	HepG2	liver:	n/a	chr12:124377225-124377236 chr12:124377225-124377236 chr12:124377223-124377234 chr12:124377223-124377236 chr12:124377220-124377237 chr12:124377223-124377236
27	CEBPB	chr12:124389783-124390267	MCF-7	breast:	n/a	chr12:124389984-124389995
28	CEBPB	chr12:124379538-124379820	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:124389804-124390174	K562	blood:	n/a	chr12:124389984-124389995
30	CEBPB	chr12:124403958-124404449	IMR90	lung:	n/a	n/a
31	CEBPB	chr12:124389682-124390301	A549	lung:	n/a	chr12:124389984-124389995
32	CEBPB	chr12:124381305-124382096	IMR90	lung:	n/a	n/a
33	CEBPB	chr12:124389821-124390187	HepG2	liver:	n/a	chr12:124389984-124389995
34	CEBPB	chr12:124411479-124411674	HepG2	liver:	n/a	chr12:124411536-124411547
35	CEBPB	chr12:124419517-124419665	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr12:124411400-124411578	K562	blood:	n/a	chr12:124411536-124411547
37	CEBPB	chr12:124392389-124392460	HepG2	liver:	n/a	n/a
38	CEBPB	chr12:124389848-124390167	ECC-1	luminal epithelium:	n/a	chr12:124389984-124389995
39	CEBPB	chr12:124423448-124423481	K562	blood:	n/a	n/a
40	CEBPB	chr12:124419437-124419726	IMR90	lung:	n/a	n/a
41	CEBPB	chr12:124377207-124377250	A549	lung:	n/a	chr12:124377225-124377236 chr12:124377225-124377236 chr12:124377223-124377234 chr12:124377223-124377236 chr12:124377220-124377237 chr12:124377223-124377236
42	CHD2	chr12:124423531-124423638	HepG2	liver:	n/a	n/a
43	CHD2	chr12:124385384-124385792	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr12:124376749-124377091	K562	blood:	n/a	n/a
45	CHD2	chr12:124395411-124395440	HepG2	liver:	n/a	n/a
46	CHD2	chr12:124383788-124383798	K562	blood:	n/a	n/a
47	CHD2	chr12:124376867-124376874	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr12:124404019-124404516	K562	blood:	n/a	n/a
49	CREB1	chr12:124404010-124404647	K562	blood:	n/a	n/a
50	CTCF	chr12:124389836-124390280	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1531 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124422061-124422111	ProgFib	skin:	n/a
2	chr12:124422061-124422111	GM19239	blood:	n/a
3	chr12:124393772-124393822	ovcar-3	ovarian:	n/a
4	chr12:124397810-124397860	AG09319	gingival:	n/a
5	chr12:124421953-124422003	Hela-S3	cervix:	n/a
6	chr12:124409762-124409812	ECC-1	luminal epithelium:	n/a
7	chr12:124422061-124422111	ProgFib	skin:	n/a
8	chr12:124422061-124422111	GM19239	blood:	n/a
9	chr12:124393772-124393822	ovcar-3	ovarian:	n/a
10	chr12:124397810-124397860	AG09319	gingival:	n/a
11	chr12:124421953-124422003	Hela-S3	cervix:	n/a
12	chr12:124409762-124409812	ECC-1	luminal epithelium:	n/a
13	chr12:124383718-124383768	CMK	blood:	n/a
14	chr12:124422135-124422185	U87	brain:	n/a
15	chr12:124409762-124409812	NHDF-neo	bronchial:	n/a
16	chr12:124392362-124392412	HL-60	blood:	n/a
17	chr12:124397892-124397942	GM12891	blood:	n/a
18	chr12:124418532-124418582	GM12878	blood:	n/a
19	chr12:124418532-124418582	GM06990	blood:	n/a
20	chr12:124418532-124418582	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:124409684-124409734	HL-60	blood:	n/a
22	chr12:124422061-124422111	AoSMC	blood vessel:	n/a
23	chr12:124397810-124397860	MCF10A-Er-Src	breast:	n/a
24	chr12:124409762-124409812	SK-N-MC	brain:	n/a
25	chr12:124421382-124421432	RPTEC	kidney:	n/a
26	chr12:124393772-124393822	Hepatocyte	liver:	n/a
27	chr12:124388250-124388300	AG04449	skin:	fetal
28	chr12:124392362-124392412	BE2_C	brain:	n/a
29	chr12:124419970-124420020	NT2-D1	testis:	n/a
30	chr12:124424413-124424463	RPTEC	kidney:	n/a
31	chr12:124383718-124383768	GM12892	blood:	n/a
32	chr12:124422061-124422111	SKMC	muscle:	n/a
33	chr12:124409762-124409812	HCPEpiC	choroid plexus:	n/a
34	chr12:124393913-124393963	PANC-1	pancreas:	n/a
35	chr12:124409762-124409812	SAEC	small airway:	n/a
36	chr12:124409684-124409734	LNCaP	prostate:	n/a
37	chr12:124409762-124409812	GM12878	blood:	n/a
38	chr12:124416315-124416365	HRE	kidney:	n/a
39	chr12:124422061-124422111	AG04449	skin:	fetal
40	chr12:124409804-124409854	GM12891	blood:	n/a
41	chr12:124421382-124421432	CMK	blood:	n/a
42	chr12:124393772-124393822	K562	blood:	n/a
43	chr12:124397810-124397860	SK-N-SH	brain:	n/a
44	chr12:124392362-124392412	CMK	blood:	n/a
45	chr12:124418532-124418582	GM12891	blood:	n/a
46	chr12:124424413-124424463	NHBE	bronchial:	n/a
47	chr12:124416315-124416365	NHBE	bronchial:	n/a
48	chr12:124388250-124388300	HNPCEpiC	eye:	n/a
49	chr12:124393913-124393963	HCF	heart:	n/a
50	chr12:124416315-124416365	IMR90	lung:	fetal

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124419434..124422110-chr12:124423989..124426076,2	K562	blood:
2	chr12:124378198..124380132-chr12:124382297..124384260,2	K562	blood:
3	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:
4	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:
5	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
6	chr12:124397482..124399331-chr12:124424154..124425975,2	K562	blood:
7	chr12:124397482..124399331-chr12:124424154..124425975,2	K562	blood:
8	chr12:124387569..124390026-chr12:124455814..124457883,2	MCF-7	breast:
9	chr12:124391978..124393581-chr12:124398813..124401282,2	MCF-7	breast:
10	chr12:124286094..124286683-chr12:124412581..124413486,2	MCF-7	breast:
11	chr12:124402948..124405033-chr12:124413350..124415168,2	MCF-7	breast:
12	chr12:124408910..124411445-chr12:124416040..124418769,2	MCF-7	breast:
13	chr12:124397207..124398875-chr12:124456168..124458505,2	MCF-7	breast:
14	chr12:124380887..124382932-chr12:124386966..124389727,2	K562	blood:
15	chr12:124379315..124381035-chr12:124454320..124456842,2	MCF-7	breast:
16	chr12:124407933..124410247-chr12:124410271..124413252,2	MCF-7	breast:
17	chr12:124397721..124401102-chr12:124402433..124404220,3	K562	blood:
18	chr12:124402948..124405033-chr12:124413350..124415168,2	MCF-7	breast:
19	chr12:124423442..124425248-chr12:124427955..124429927,2	MCF-7	breast:
20	chr12:124379452..124381499-chr12:124383777..124386818,3	MCF-7	breast:
21	chr12:124369425..124371891-chr12:124388110..124389965,2	MCF-7	breast:
22	chr12:124408910..124411445-chr12:124416040..124418769,2	MCF-7	breast:
23	chr12:124377023..124380041-chr12:124383288..124384987,3	MCF-7	breast:
24	chr12:124397721..124401102-chr12:124402433..124404220,3	K562	blood:
25	chr12:124389600..124390517-chr12:124516534..124517510,2	K562	blood:
26	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
27	chr12:124380887..124382932-chr12:124386966..124389727,2	K562	blood:
28	chr12:124399326..124401527-chr12:124406576..124410878,3	MCF-7	breast:
29	chr12:124377023..124380041-chr12:124383288..124384987,3	MCF-7	breast:
30	chr12:124409871..124412638-chr12:124416251..124418767,2	K562	blood:
31	chr12:124295197..124298095-chr12:124388889..124391568,2	MCF-7	breast:
32	chr1:109583884..109584598-chr12:124392910..124393430,2	Hela-S3	cervix:
33	chr12:124409871..124412638-chr12:124416251..124418767,2	K562	blood:
34	chr12:124378198..124380132-chr12:124382297..124384260,2	K562	blood:
35	chr12:124407933..124410247-chr12:124410271..124413252,2	MCF-7	breast:
36	chr12:124417812..124421208-chr12:124423467..124426187,5	MCF-7	breast:
37	chr12:124381734..124384108-chr12:124456893..124459517,2	MCF-7	breast:
38	chr12:124379452..124381499-chr12:124383777..124386818,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC92-1	chr12:124408539-124408835	NONHSAT031610
2	lnc-DNAH10OS-1	chr12:124410008-124410630	ENSG00000270028.1
3	lnc-DNAH10OS-2	chr12:124420169-124420753	ENSG00000270005.1

No data

Variant related genes	Relation type
ENSG00000270005	TF binding region
DNAH10	TF binding region
DNAH10OS	TF binding region
ENSG00000270028	TF binding region
ENSG00000270005	CpG island
DNAH10	CpG island
DNAH10OS	CpG island
ENSG00000270028	CpG island
ENSG00000179195	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000270028	chromatin interactions
ENSG00000270005	chromatin interactions
ENSG00000197653	chromatin interactions
ENSG00000250091	chromatin interactions
ENSG00000085433	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000270095	chromatin interactions

Extended variants
information (count: 2301 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2301 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10846569	chr12:124374716-124374717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78749219	chr12:124374725-124374726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188888641	chr12:124374731-124374732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149868900	chr12:124374816-124374817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544884345	chr12:124374892-124374893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181429678	chr12:124374943-124374944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530607311	chr12:124374970-124374971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61953571	chr12:124374985-124374986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75873061	chr12:124374987-124374988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185868578	chr12:124374997-124374998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370409370	chr12:124374998-124374999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555140088	chr12:124374999-124375000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201416327	chr12:124375004-124375005	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs116580147	chr12:124375103-124375104	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs35881694	chr12:124375117-124375118	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs571245964	chr12:124375159-124375160	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs532171926	chr12:124375165-124375166	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs572490490	chr12:124375166-124375167	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs386767212	chr12:124375208-124375209	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs10773046	chr12:124375210-124375211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
21	rs536548427	chr12:124375251-124375252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555117691	chr12:124375255-124375256	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566969573	chr12:124375264-124375265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs377561868	chr12:124375294-124375295	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs558657128	chr12:124375314-124375315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576826824	chr12:124375336-124375337	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs145672017	chr12:124375341-124375342	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs113574232	chr12:124375353-124375354	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs34721462	chr12:124375357-124375358	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370787119	chr12:124375400-124375401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs10846570	chr12:124375466-124375467	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs530756106	chr12:124375468-124375469	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs542577198	chr12:124375508-124375509	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs561101396	chr12:124375537-124375538	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs528307662	chr12:124375538-124375539	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs540307512	chr12:124375562-124375563	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs565018840	chr12:124375597-124375598	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs532135026	chr12:124375649-124375650	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189157353	chr12:124375694-124375695	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74560309	chr12:124375725-124375726	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530386303	chr12:124375738-124375739	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79793452	chr12:124375742-124375743	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs118071000	chr12:124375745-124375746	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111277240	chr12:124375767-124375768	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533370454	chr12:124375778-124375779	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141918916	chr12:124375807-124375808	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568599595	chr12:124375820-124375821	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150668726	chr12:124375836-124375837	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182554189	chr12:124375837-124375838	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116278391	chr12:124375920-124375921	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124371800-124375000	Weak transcription	Fetal Thymus	thymus
2	chr12:124373200-124377000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:124375000-124375200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:124375000-124375400	Enhancers	Fetal Thymus	thymus
5	chr12:124375000-124375400	Bivalent Enhancer	Dnd41	blood
6	chr12:124375000-124375600	Enhancers	Liver	Liver
7	chr12:124375200-124375400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr12:124375200-124375400	Bivalent Enhancer	Placenta	Placenta
9	chr12:124375200-124375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:124375200-124376600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:124375400-124375600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:124375600-124375800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:124375800-124376600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:124375800-124376800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:124376000-124376600	Enhancers	NH-A	brain
16	chr12:124376000-124376800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:124376200-124376400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:124376200-124376400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:124376200-124376400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:124376200-124377200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:124376600-124383200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:124377000-124378200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr12:124377400-124377600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr12:124377400-124378200	Bivalent Enhancer	HepG2	liver
25	chr12:124377400-124379600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:124378200-124378400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:124378400-124380600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:124379200-124380800	Bivalent Enhancer	HepG2	liver
29	chr12:124379600-124380000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:124379600-124380200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:124379800-124380000	Enhancers	Fetal Lung	lung
32	chr12:124380000-124380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:124380000-124385600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:124380200-124380600	Weak transcription	Fetal Lung	lung
35	chr12:124380600-124381800	Enhancers	Fetal Brain Male	brain
36	chr12:124380600-124382000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:124380600-124382000	Enhancers	Fetal Lung	lung
38	chr12:124380800-124381400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:124380800-124381400	Enhancers	Brain Hippocampus Middle	brain
40	chr12:124381000-124381200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:124381000-124381200	Bivalent Enhancer	Placenta	Placenta
42	chr12:124381000-124381200	Enhancers	NHDF-Ad	bronchial
43	chr12:124381000-124381400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:124381000-124381400	Enhancers	Osteobl	bone
45	chr12:124381000-124382000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:124381000-124382000	Enhancers	Fetal Muscle Leg	muscle
47	chr12:124381200-124381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:124381200-124381400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:124381200-124381400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr12:124381200-124381600	Enhancers	Adipose Nuclei	Adipose

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