Variant report

Variant	nsv826542
Chromosome Location	chr1:211750561-211752995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1156)
CpG islands
(count:611)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:211751183-211751451	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:211752854-211753252	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:211751176-211751327	K562	blood:	n/a	n/a
4	ATF1	chr1:211752422-211753356	K562	blood:	n/a	n/a
5	ATF2	chr1:211752231-211752766	GM12878	blood:	n/a	n/a
6	ATF2	chr1:211751006-211751542	GM12878	blood:	n/a	n/a
7	ATF2	chr1:211752810-211753285	GM12878	blood:	n/a	n/a
8	ATF3	chr1:211752145-211752722	A549	lung:	n/a	chr1:211752642-211752652 chr1:211752711-211752720
9	ATF3	chr1:211751091-211751348	K562	blood:	n/a	chr1:211751215-211751224
10	ATF3	chr1:211750701-211751745	A549	lung:	n/a	chr1:211751215-211751224
11	ATF3	chr1:211752831-211753225	K562	blood:	n/a	n/a
12	BACH1	chr1:211751332-211751657	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:211752419-211752460	K562	blood:	n/a	n/a
14	BACH1	chr1:211752827-211753014	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr1:211751153-211751360	GM12878	blood:	n/a	n/a
16	BCLAF1	chr1:211751020-211751546	GM12878	blood:	n/a	chr1:211751211-211751220
17	BCLAF1	chr1:211752191-211752685	GM12878	blood:	n/a	chr1:211752298-211752311 chr1:211752248-211752257 chr1:211752455-211752468
18	BCLAF1	chr1:211752744-211753311	GM12878	blood:	n/a	chr1:211752906-211752919 chr1:211753003-211753016 chr1:211753008-211753017
19	BCLAF1	chr1:211751059-211751498	GM12878	blood:	n/a	chr1:211751211-211751220
20	BHLHE40	chr1:211752489-211752588	A549	lung:	n/a	n/a
21	BHLHE40	chr1:211751039-211753381	GM12878	blood:	n/a	chr1:211751231-211751247 chr1:211751960-211751976 chr1:211752458-211752474 chr1:211751957-211751973 chr1:211751172-211751188
22	BHLHE40	chr1:211750870-211753535	K562	blood:	n/a	chr1:211751231-211751247 chr1:211751960-211751976 chr1:211752458-211752474 chr1:211751957-211751973 chr1:211751172-211751188
23	BHLHE40	chr1:211752320-211753462	HepG2	liver:	n/a	chr1:211752458-211752474
24	BRCA1	chr1:211752911-211753098	HepG2	liver:	n/a	n/a
25	BRCA1	chr1:211750530-211751763	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:211751314-211751496	HepG2	liver:	n/a	n/a
27	BRCA1	chr1:211752430-211752734	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr1:211752888-211753516	K562	blood:	n/a	n/a
29	CBX3	chr1:211750976-211752035	K562	blood:	n/a	n/a
30	CBX3	chr1:211752100-211752732	K562	blood:	n/a	n/a
31	CCNT2	chr1:211750901-211753387	K562	blood:	n/a	chr1:211752711-211752720 chr1:211753013-211753022 chr1:211752738-211752747 chr1:211752838-211752847
32	CEBPB	chr1:211751555-211751797	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:211751548-211751845	K562	blood:	n/a	n/a
34	CEBPB	chr1:211752743-211753440	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:211751206-211751450	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:211751496-211751864	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:211750408-211751876	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:211752309-211752706	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr1:211752197-211752665	K562	blood:	n/a	n/a
40	CEBPD	chr1:211752894-211753497	K562	blood:	n/a	n/a
41	CEBPD	chr1:211752829-211753141	HepG2	liver:	n/a	n/a
42	CEBPD	chr1:211752330-211753183	HepG2	liver:	n/a	n/a
43	CEBPD	chr1:211752384-211752673	HepG2	liver:	n/a	n/a
44	CEBPD	chr1:211752810-211753593	K562	blood:	n/a	n/a
45	CHD1	chr1:211750902-211751988	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr1:211752885-211753281	GM12878	blood:	n/a	n/a
47	CHD1	chr1:211750459-211750636	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr1:211752268-211752468	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr1:211751737-211752579	GM12878	blood:	n/a	n/a
50	CHD1	chr1:211750981-211751451	GM12878	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211752620-211752670	GM12891	blood:	n/a
2	chr1:211752620-211752670	GM12891	blood:	n/a
3	chr1:211752511-211752561	HepG2	liver:	n/a
4	chr1:211752620-211752670	GM19239	blood:	n/a
5	chr1:211750967-211751017	Hepatocyte	liver:	n/a
6	chr1:211751793-211751843	AG04449	skin:	fetal
7	chr1:211751907-211751957	PrEC	prostate:	n/a
8	chr1:211752511-211752561	HCM	heart:	n/a
9	chr1:211752571-211752621	HCT-116	colon:	n/a
10	chr1:211751907-211751957	HEK293	kidney:	embryo
11	chr1:211750967-211751017	HRPEpiC	eye:	n/a
12	chr1:211751122-211751172	RPTEC	kidney:	n/a
13	chr1:211751793-211751843	ECC-1	luminal epithelium:	n/a
14	chr1:211752511-211752561	H1-hESC	embryonic stem cell:	embryo
15	chr1:211752511-211752561	BE2_C	brain:	n/a
16	chr1:211750839-211750889	NT2-D1	testis:	n/a
17	chr1:211750967-211751017	SKMC	muscle:	n/a
18	chr1:211752620-211752670	AG10803	skin:	n/a
19	chr1:211751127-211751177	ovcar-3	ovarian:	n/a
20	chr1:211751127-211751177	ECC-1	luminal epithelium:	n/a
21	chr1:211750839-211750889	HEEpiC	esophagus:	n/a
22	chr1:211751793-211751843	U87	brain:	n/a
23	chr1:211750967-211751017	Jurkat	blood:	n/a
24	chr1:211751907-211751957	GM12878	blood:	n/a
25	chr1:211750839-211750889	GM12892	blood:	n/a
26	chr1:211752571-211752621	HCF	heart:	n/a
27	chr1:211752511-211752561	PANC-1	pancreas:	n/a
28	chr1:211750839-211750889	SK-N-MC	brain:	n/a
29	chr1:211750839-211750889	AG04450	lung:	fetal
30	chr1:211752620-211752670	HEK293	kidney:	embryo
31	chr1:211750967-211751017	HL-60	blood:	n/a
32	chr1:211752895-211752945	AG10803	skin:	n/a
33	chr1:211750839-211750889	IMR90	lung:	fetal
34	chr1:211751793-211751843	NB4	blood:	n/a
35	chr1:211750839-211750889	NHBE	bronchial:	n/a
36	chr1:211751122-211751172	AG10803	skin:	n/a
37	chr1:211752571-211752621	HRCEpiC	kidney:	n/a
38	chr1:211751122-211751172	T-47D	breast:	n/a
39	chr1:211752511-211752561	HEEpiC	esophagus:	n/a
40	chr1:211752571-211752621	NB4	blood:	n/a
41	chr1:211750967-211751017	Hela-S3	cervix:	n/a
42	chr1:211750839-211750889	RPTEC	kidney:	n/a
43	chr1:211752895-211752945	Jurkat	blood:	n/a
44	chr1:211752620-211752670	A549	lung:	n/a
45	chr1:211752571-211752621	PFSK-1	brain:	n/a
46	chr1:211751127-211751177	ProgFib	skin:	n/a
47	chr1:211752895-211752945	GM12892	blood:	n/a
48	chr1:211752620-211752670	NHBE	bronchial:	n/a
49	chr1:211751793-211751843	HUVEC	blood vessel:	n/a
50	chr1:211751127-211751177	SK-N-MC	brain:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
2	chr1:211751624..211752576-chr2:27435164..27436057,2	Hela-S3	cervix:
3	chr1:211751583..211753296-chr1:211847712..211850652,2	MCF-7	breast:
4	chr1:211752517..211753385-chr13:114145050..114145629,2	Hela-S3	cervix:
5	chr1:211752053..211752664-chr2:98262083..98262626,2	HCT-116	colon:
6	chr1:211715152..211718143-chr1:211748506..211750792,2	K562	blood:
7	chr1:211498857..211501622-chr1:211752568..211754249,2	K562	blood:
8	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:
9	chr1:211750781..211751639-chr1:211798078..211798633,2	MCF-7	breast:
10	chr1:211750650..211751428-chr1:211803176..211803710,2	MCF-7	breast:
11	chr1:211750433..211752019-chr1:211835257..211837969,2	K562	blood:
12	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
13	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:
14	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
15	chr1:211751822..211752607-chr7:35734035..35734698,2	Hela-S3	cervix:
16	chr1:211752607..211754839-chr1:211771160..211773503,2	K562	blood:
17	chr1:211750683..211751727-chr1:211803429..211804168,3	K562	blood:
18	chr1:211751146..211751864-chr1:211798100..211799087,3	K562	blood:
19	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
20	chr1:211750437..211753125-chr1:211823737..211827672,4	MCF-7	breast:
21	chr1:211752671..211753306-chrX:123093276..123093877,2	Hela-S3	cervix:
22	chr1:211750816..211751334-chr1:211828394..211828945,2	MCF-7	breast:
23	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:

No data

Variant related genes	Relation type
SLC30A1	TF binding region
SLC30A1	CpG island
ENSG00000138085	chromatin interactions
ENSG00000222080	chromatin interactions
ENSG00000082512	chromatin interactions
ENSG00000117650	chromatin interactions
ENSG00000150403	chromatin interactions
ENSG00000231057	chromatin interactions
ENSG00000228792	chromatin interactions
ENSG00000150401	chromatin interactions
ENSG00000122557	chromatin interactions
ENSG00000135940	chromatin interactions
ENSG00000138074	chromatin interactions
ENSG00000117625	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575958116	chr1:211750567-211750568	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs543359639	chr1:211750663-211750664	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs555193000	chr1:211750711-211750712	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs574052808	chr1:211750953-211750954	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115927197	chr1:211750994-211750995	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs540711132	chr1:211751008-211751009	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2278652	chr1:211751025-211751026	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs2278651	chr1:211751060-211751061	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545017470	chr1:211751082-211751083	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563555337	chr1:211751130-211751131	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs531608748	chr1:211751228-211751229	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550119345	chr1:211751245-211751246	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562055841	chr1:211751262-211751263	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375160965	chr1:211751337-211751338	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs201826175	chr1:211751403-211751404	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369665772	chr1:211751426-211751427	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373955261	chr1:211751428-211751429	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188652645	chr1:211751442-211751443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs116730493	chr1:211751464-211751465	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs529909438	chr1:211751487-211751488	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150353972	chr1:211751488-211751489	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141311536	chr1:211751493-211751494	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536664479	chr1:211751496-211751497	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs115000786	chr1:211751509-211751510	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573282488	chr1:211751529-211751530	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs372723829	chr1:211751539-211751540	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs116028646	chr1:211751595-211751596	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs552643112	chr1:211751605-211751606	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs377184136	chr1:211751612-211751613	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs373506965	chr1:211751754-211751755	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs138833626	chr1:211751770-211751771	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs376879993	chr1:211751832-211751833	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs577421431	chr1:211751850-211751851	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs143632069	chr1:211751908-211751909	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs115358595	chr1:211751925-211751926	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs113173086	chr1:211751974-211751975	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs575459232	chr1:211751984-211751985	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs201014656	chr1:211751987-211751988	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs562091419	chr1:211752147-211752148	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs11810058	chr1:211752148-211752149	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs547951877	chr1:211752193-211752194	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs559838003	chr1:211752214-211752215	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs371444935	chr1:211752318-211752319	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs533384187	chr1:211752348-211752349	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs376041310	chr1:211752433-211752434	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs551918206	chr1:211752484-211752485	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs369681844	chr1:211752496-211752497	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs570135591	chr1:211752505-211752506	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs374111013	chr1:211752509-211752510	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs537778488	chr1:211752511-211752512	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:211747000-211750600	Weak transcription	Psoas Muscle	Psoas
3	chr1:211747200-211750800	Weak transcription	Spleen	Spleen
4	chr1:211747400-211750800	Weak transcription	Esophagus	oesophagus
5	chr1:211747600-211750600	Weak transcription	Right Ventricle	heart
6	chr1:211748200-211750600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:211748400-211750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:211748600-211753200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:211748800-211750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:211748800-211751000	Active TSS	Right Atrium	heart
11	chr1:211748800-211751400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:211749000-211750600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:211749000-211750600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:211749000-211750800	Active TSS	Fetal Intestine Small	intestine
15	chr1:211749000-211753400	Active TSS	Aorta	Aorta
16	chr1:211749000-211753400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:211749200-211750800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:211749400-211750600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:211749400-211750600	Active TSS	Brain Anterior Caudate	brain
20	chr1:211749400-211750600	Active TSS	Brain Hippocampus Middle	brain
21	chr1:211749400-211750600	Weak transcription	Placenta	Placenta
22	chr1:211749400-211750800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:211749400-211751400	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:211749400-211753200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:211749400-211753200	Active TSS	Fetal Stomach	stomach
26	chr1:211749400-211753200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:211749400-211753400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:211749600-211750600	Enhancers	Primary B cells from cord blood	blood
29	chr1:211749600-211750600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:211749600-211750600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:211749600-211750600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:211749600-211750600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:211749600-211750600	Flanking Active TSS	HUVEC	blood vessel
34	chr1:211749600-211750800	Weak transcription	Gastric	stomach
35	chr1:211749600-211750800	Weak transcription	Left Ventricle	heart
36	chr1:211749600-211750800	Weak transcription	Lung	lung
37	chr1:211749600-211750800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:211749600-211750800	Active TSS	HepG2	liver
39	chr1:211749600-211751000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:211749600-211753000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:211749600-211753000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:211749600-211753000	Active TSS	GM12878-XiMat	blood
43	chr1:211749600-211753000	Active TSS	HMEC	breast
44	chr1:211749600-211753000	Active TSS	HSMMtube	muscle
45	chr1:211749600-211753000	Active TSS	NH-A	brain
46	chr1:211749600-211753000	Active TSS	NHLF	lung
47	chr1:211749600-211753200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:211749600-211753200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:211749600-211753200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:211749600-211753200	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links