Variant report

Variant	nsv876742
Chromosome Location	chr3:46705369-46763839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1748)
CpG islands
(count:2995)
Chromatin interactive
region (count:126)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1748 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:46755483-46755920	GM12878	blood:	n/a	n/a
2	ATF2	chr3:46746461-46746813	GM12878	blood:	n/a	n/a
3	ATF2	chr3:46759302-46759627	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:46755533-46755773	GM12878	blood:	n/a	n/a
5	ATF3	chr3:46759331-46759550	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr3:46759282-46759598	K562	blood:	n/a	n/a
7	ATF3	chr3:46759265-46759598	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:46759334-46759543	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:46746558-46746758	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:46734048-46734515	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr3:46755589-46755797	GM12878	blood:	n/a	n/a
13	BATF	chr3:46720127-46720375	GM12878	blood:	n/a	n/a
14	BATF	chr3:46755501-46755889	GM12878	blood:	n/a	n/a
15	BATF	chr3:46720130-46720422	GM12878	blood:	n/a	n/a
16	BCL11A	chr3:46755446-46755860	GM12878	blood:	n/a	chr3:46755588-46755601
17	BCL11A	chr3:46755551-46755755	GM12878	blood:	n/a	chr3:46755588-46755601
18	BCL3	chr3:46755447-46755829	GM12878	blood:	n/a	chr3:46755588-46755601
19	BCLAF1	chr3:46759179-46759647	K562	blood:	n/a	n/a
20	BHLHE40	chr3:46736761-46737392	K562	blood:	n/a	n/a
21	BHLHE40	chr3:46736984-46737365	GM12878	blood:	n/a	n/a
22	BHLHE40	chr3:46759435-46759439	K562	blood:	n/a	n/a
23	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
24	BHLHE40	chr3:46746528-46746852	K562	blood:	n/a	n/a
25	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
26	BHLHE40	chr3:46755577-46755866	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
28	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr3:46746601-46746847	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr3:46746485-46746854	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:46708976-46709045	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr3:46759337-46759615	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr3:46755567-46755723	GM12878	blood:	n/a	n/a
34	BRCA1	chr3:46746586-46746696	HepG2	liver:	n/a	n/a
35	CBX3	chr3:46759328-46759544	K562	blood:	n/a	n/a
36	CBX3	chr3:46759289-46759662	K562	blood:	n/a	n/a
37	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
38	CCNT2	chr3:46759152-46759605	K562	blood:	n/a	n/a
39	CEBPB	chr3:46737527-46737719	Hela-S3	cervix:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
40	CEBPB	chr3:46720185-46720372	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr3:46734030-46734446	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr3:46746392-46746831	GM12878	blood:	n/a	n/a
43	CEBPB	chr3:46737567-46737769	K562	blood:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
44	CEBPB	chr3:46737591-46737781	HepG2	liver:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
45	CEBPB	chr3:46732340-46732540	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr3:46759364-46759565	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr3:46746500-46746707	GM12878	blood:	n/a	n/a
48	CHD2	chr3:46734962-46735064	K562	blood:	n/a	n/a
49	CHD2	chr3:46732288-46732555	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr3:46746573-46746830	HepG2	liver:	n/a	n/a

(count:2995 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46720206-46720256	HCF	heart:	n/a
2	chr3:46718369-46718419	HCM	heart:	n/a
3	chr3:46735152-46735202	HL-60	blood:	n/a
4	chr3:46759096-46759146	IMR90	lung:	fetal
5	chr3:46735338-46735388	HepG2	liver:	n/a
6	chr3:46735009-46735059	BE2_C	brain:	n/a
7	chr3:46720206-46720256	HCF	heart:	n/a
8	chr3:46718369-46718419	HCM	heart:	n/a
9	chr3:46735152-46735202	HL-60	blood:	n/a
10	chr3:46759096-46759146	IMR90	lung:	fetal
11	chr3:46735338-46735388	HepG2	liver:	n/a
12	chr3:46735009-46735059	BE2_C	brain:	n/a
13	chr3:46735009-46735059	BJ	skin:	n/a
14	chr3:46735009-46735059	PrEC	prostate:	n/a
15	chr3:46735009-46735059	HCM	heart:	n/a
16	chr3:46742703-46742753	HEEpiC	esophagus:	n/a
17	chr3:46743078-46743128	HMEC	breast:	n/a
18	chr3:46761555-46761605	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:46733475-46733525	Hela-S3	cervix:	n/a
20	chr3:46759096-46759146	HL-60	blood:	n/a
21	chr3:46733475-46733525	HIPEpiC	eye:	n/a
22	chr3:46719834-46719884	K562	blood:	n/a
23	chr3:46735152-46735202	Hela-S3	cervix:	n/a
24	chr3:46719834-46719884	ProgFib	skin:	n/a
25	chr3:46755916-46755966	SKMC	muscle:	n/a
26	chr3:46734393-46734443	AG10803	skin:	n/a
27	chr3:46741492-46741542	AG10803	skin:	n/a
28	chr3:46718990-46719040	AG10803	skin:	n/a
29	chr3:46742491-46742541	AoSMC	blood vessel:	n/a
30	chr3:46734393-46734443	Jurkat	blood:	n/a
31	chr3:46719086-46719136	PFSK-1	brain:	n/a
32	chr3:46730941-46730991	GM19239	blood:	n/a
33	chr3:46759472-46759522	AG04450	lung:	fetal
34	chr3:46759449-46759499	BJ	skin:	n/a
35	chr3:46759096-46759146	SAEC	small airway:	n/a
36	chr3:46730941-46730991	AG04449	skin:	fetal
37	chr3:46742865-46742915	BJ	skin:	n/a
38	chr3:46759475-46759525	HIPEpiC	eye:	n/a
39	chr3:46742491-46742541	AG04450	lung:	fetal
40	chr3:46719834-46719884	AoSMC	blood vessel:	n/a
41	chr3:46746779-46746829	SK-N-SH_RA	brain:	n/a
42	chr3:46735801-46735851	BE2_C	brain:	n/a
43	chr3:46735454-46735504	NB4	blood:	n/a
44	chr3:46719834-46719884	HCT-116	colon:	n/a
45	chr3:46718979-46719029	Caco-2	colon:	n/a
46	chr3:46752152-46752202	AG10803	skin:	n/a
47	chr3:46759588-46759638	HIPEpiC	eye:	n/a
48	chr3:46735695-46735745	IMR90	lung:	fetal
49	chr3:46742898-46742948	IMR90	lung:	fetal
50	chr3:46739004-46739054	AG09309	skin:	n/a

(count:126 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
2	chr3:46747343..46747876-chr3:47412441..47413259,2	MCF-7	breast:
3	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
4	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
5	chr3:46707872..46708784-chr3:46734766..46735318,2	MCF-7	breast:
6	chr3:46727228..46728966-chr3:46733953..46736309,2	MCF-7	breast:
7	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
8	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
9	chr3:46746540..46747094-chr3:46948369..46948995,2	K562	blood:
10	chr3:46761792..46767256-chr3:46770894..46774909,6	K562	blood:
11	chr3:46746174..46747036-chr3:46933635..46934581,2	MCF-7	breast:
12	chr3:46670110..46673240-chr3:46702336..46706371,4	MCF-7	breast:
13	chr3:46675056..46675850-chr3:46708207..46708731,2	MCF-7	breast:
14	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
15	chr3:46719842..46724126-chr3:46725182..46728551,5	MCF-7	breast:
16	chr3:46724809..46726431-chr3:46731600..46733617,2	K562	blood:
17	chr3:46729365..46731831-chr3:46732714..46735067,2	K562	blood:
18	chr3:46720178..46722487-chr3:46787613..46789601,2	K562	blood:
19	chr3:46763658..46765267-chr3:46926020..46928200,2	MCF-7	breast:
20	chr3:46746189..46747162-chr3:46936459..46937309,7	MCF-7	breast:
21	chr3:46704689..46705566-chr3:46936603..46937451,3	MCF-7	breast:
22	chr3:46737124..46738860-chr3:46743430..46745835,2	K562	blood:
23	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
24	chr3:46723115..46726062-chr3:46732632..46735169,2	MCF-7	breast:
25	chr3:46736085..46739130-chr3:47020544..47022434,3	MCF-7	breast:
26	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
27	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
28	chr3:46698830..46701329-chr3:46704770..46706744,2	K562	blood:
29	chr3:46746240..46747607-chr3:46936343..46937490,8	K562	blood:
30	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
31	chr3:46751695..46753844-chr3:46756302..46759946,5	K562	blood:
32	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
33	chr3:46711200..46713596-chr3:46721127..46724340,3	MCF-7	breast:
34	chr3:46707418..46709371-chr3:46712225..46713806,2	K562	blood:
35	chr3:46706098..46708257-chr3:46728561..46731134,2	MCF-7	breast:
36	chr3:46723220..46725442-chr3:46727287..46728789,2	K562	blood:
37	chr3:46720846..46722573-chr3:46724433..46726635,2	MCF-7	breast:
38	chr3:46711200..46713596-chr3:46721127..46724340,3	MCF-7	breast:
39	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
40	chr3:46706471..46710183-chr3:46732042..46737071,8	MCF-7	breast:
41	chr3:46703608..46706840-chr3:46708905..46711367,3	K562	blood:
42	chr3:46734848..46735671-chr3:160283077..160283853,2	Hela-S3	cervix:
43	chr3:46746470..46747089-chr3:46944228..46945196,2	K562	blood:
44	chr3:46708885..46711230-chr3:46720885..46722743,2	K562	blood:
45	chr3:46737124..46738860-chr3:46743430..46745835,2	K562	blood:
46	chr3:46730164..46732483-chr3:46734488..46736983,2	MCF-7	breast:
47	chr3:46736001..46738313-chr3:46739420..46741660,3	MCF-7	breast:
48	chr3:46746480..46747149-chr3:46935659..46936387,2	MCF-7	breast:
49	chr3:46700787..46702922-chr3:46710281..46712322,2	K562	blood:
50	chr3:46746461..46747137-chr3:46936122..46936835,3	MCF-7	breast:

No data

Variant related genes	Relation type
TMIE	TF binding region
PRSS50	TF binding region
ALS2CL	TF binding region
TMIE	CpG island
PRSS50	CpG island
ALS2CL	CpG island
ENSG00000186432	chromatin interactions
ENSG00000264306	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000113558	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000181585	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000261603	chromatin interactions
ENSG00000206549	chromatin interactions

Extended variants
information (count: 2516 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2516 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4682826	chr3:46705369-46705370	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77717432	chr3:46705381-46705382	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192137814	chr3:46705406-46705407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551076055	chr3:46705421-46705422	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138761656	chr3:46705428-46705429	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183961181	chr3:46705431-46705432	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373824469	chr3:46705486-46705487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188467361	chr3:46705487-46705488	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74975494	chr3:46705488-46705489	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567987071	chr3:46705493-46705494	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141717177	chr3:46705503-46705504	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370608884	chr3:46705509-46705510	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556494986	chr3:46705532-46705533	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571686221	chr3:46705538-46705539	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539121229	chr3:46705550-46705551	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4683261	chr3:46705622-46705623	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371253755	chr3:46705669-46705670	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs939416	chr3:46705687-46705688	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540461333	chr3:46705694-46705695	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112297216	chr3:46705700-46705701	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192138937	chr3:46705719-46705720	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146248082	chr3:46705740-46705741	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544946992	chr3:46705753-46705754	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140071134	chr3:46705796-46705797	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370468894	chr3:46705838-46705839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs373360257	chr3:46705872-46705873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs182502610	chr3:46705907-46705908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs377752628	chr3:46705908-46705909	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs532797943	chr3:46705913-46705914	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs544680019	chr3:46705945-46705946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs559859734	chr3:46706026-46706027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs77263397	chr3:46706047-46706048	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs549511493	chr3:46706051-46706052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs386660744	chr3:46706064-46706065	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs6762662	chr3:46706065-46706066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs550243358	chr3:46706109-46706110	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546886822	chr3:46706194-46706195	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34437592	chr3:46706205-46706206	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571647683	chr3:46706241-46706242	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539083130	chr3:46706249-46706250	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554299471	chr3:46706252-46706253	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150821459	chr3:46706296-46706297	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6442014	chr3:46706315-46706316	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs367652201	chr3:46706337-46706338	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139229963	chr3:46706494-46706495	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544478601	chr3:46706511-46706512	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370243527	chr3:46706528-46706529	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs939417	chr3:46706531-46706532	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140586092	chr3:46706538-46706539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11269266	chr3:46706539-46706540	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1742 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46698000-46707600	Weak transcription	Gastric	stomach
2	chr3:46700400-46705400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:46700400-46705800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:46700400-46705800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:46700600-46705400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:46700600-46705600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:46700800-46705400	Enhancers	Placenta	Placenta
8	chr3:46700800-46710400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr3:46701200-46705400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:46701600-46706800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:46701600-46709200	Enhancers	Right Ventricle	heart
12	chr3:46702400-46706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:46702800-46707200	Weak transcription	Pancreas	Pancrea
14	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
15	chr3:46703000-46705400	Weak transcription	Lung	lung
16	chr3:46703000-46705600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:46703000-46705800	Enhancers	Fetal Muscle Leg	muscle
18	chr3:46703000-46711600	Weak transcription	Esophagus	oesophagus
19	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
20	chr3:46703400-46705600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:46703400-46706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:46703400-46706000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:46703400-46707200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr3:46703400-46709400	Enhancers	Left Ventricle	heart
25	chr3:46703600-46705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:46703600-46706200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:46703800-46705400	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:46703800-46705400	Enhancers	Brain Hippocampus Middle	brain
29	chr3:46703800-46705400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:46703800-46706000	Enhancers	Brain Angular Gyrus	brain
31	chr3:46703800-46706200	Enhancers	Fetal Brain Male	brain
32	chr3:46703800-46709200	Enhancers	Right Atrium	heart
33	chr3:46704000-46705400	Enhancers	Ovary	ovary
34	chr3:46704000-46705800	Enhancers	Brain Anterior Caudate	brain
35	chr3:46704000-46706000	Enhancers	Brain Germinal Matrix	brain
36	chr3:46704000-46706000	Enhancers	Fetal Lung	lung
37	chr3:46704200-46705400	Enhancers	Adipose Nuclei	Adipose
38	chr3:46704200-46705400	Enhancers	Brain Substantia Nigra	brain
39	chr3:46704200-46705400	Enhancers	Colonic Mucosa	Colon
40	chr3:46704200-46705600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr3:46704200-46706200	Enhancers	Spleen	Spleen
42	chr3:46704200-46708800	Enhancers	Fetal Heart	heart
43	chr3:46704200-46712400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:46704400-46705400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:46704400-46705400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr3:46704400-46705400	Flanking Active TSS	HSMMtube	muscle
47	chr3:46704400-46705600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:46704400-46705600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:46704400-46706200	Enhancers	Fetal Stomach	stomach
50	chr3:46704400-46706400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links