Variant report

Variant	esv1847016
Chromosome Location	chr3:42855765-42880490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1037)
CpG islands
(count:61)
Chromatin interactive
region (count:54)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:42857753-42857998	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:42878084-42878434	K562	blood:	n/a	n/a
3	ARID3A	chr3:42872700-42873059	K562	blood:	n/a	n/a
4	ARID3A	chr3:42871943-42872147	K562	blood:	n/a	n/a
5	ARID3A	chr3:42860674-42861264	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:42872768-42873102	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:42870194-42872394	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:42867152-42867292	HepG2	liver:	n/a	n/a
9	ARID3A	chr3:42856695-42857084	K562	blood:	n/a	n/a
10	ARID3A	chr3:42864357-42864741	HepG2	liver:	n/a	n/a
11	ATF1	chr3:42870982-42871025	K562	blood:	n/a	n/a
12	ATF1	chr3:42878035-42878500	K562	blood:	n/a	n/a
13	ATF2	chr3:42872673-42873120	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr3:42878017-42878519	K562	blood:	n/a	n/a
15	BACH1	chr3:42870773-42870898	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr3:42870546-42871460	HepG2	liver:	n/a	n/a
17	BHLHE40	chr3:42878095-42878503	K562	blood:	n/a	n/a
18	CBX3	chr3:42876991-42877430	K562	blood:	n/a	n/a
19	CBX3	chr3:42856382-42857028	K562	blood:	n/a	n/a
20	CBX3	chr3:42877964-42878552	K562	blood:	n/a	chr3:42878059-42878070
21	CCNT2	chr3:42877771-42878457	K562	blood:	n/a	chr3:42878281-42878301
22	CEBPB	chr3:42861532-42861676	K562	blood:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
23	CEBPB	chr3:42872743-42873078	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:42864291-42864537	A549	lung:	n/a	n/a
25	CEBPB	chr3:42870560-42870813	HepG2	liver:	n/a	n/a
26	CEBPB	chr3:42870519-42872173	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:42861396-42861833	Hela-S3	cervix:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
28	CEBPB	chr3:42871891-42872193	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr3:42861317-42861866	ECC-1	luminal epithelium:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
30	CEBPB	chr3:42870562-42871390	HepG2	liver:	n/a	n/a
31	CEBPB	chr3:42861445-42861761	A549	lung:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
32	CEBPB	chr3:42861275-42861590	H1-hESC	embryonic stem cell:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
33	CEBPB	chr3:42861236-42861907	MCF-7	breast:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
34	CEBPB	chr3:42872697-42872992	A549	lung:	n/a	n/a
35	CEBPB	chr3:42861420-42861771	ECC-1	luminal epithelium:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
36	CEBPB	chr3:42864077-42864610	HepG2	liver:	n/a	chr3:42864256-42864267
37	CEBPB	chr3:42872563-42873052	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr3:42864163-42864353	MCF-7	breast:	n/a	chr3:42864256-42864267
39	CEBPB	chr3:42861439-42861708	IMR90	lung:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
40	CEBPB	chr3:42864174-42864450	K562	blood:	n/a	chr3:42864256-42864267
41	CEBPB	chr3:42878091-42878698	K562	blood:	n/a	n/a
42	CEBPB	chr3:42861013-42861726	HepG2	liver:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
43	CEBPB	chr3:42861298-42861875	HCT-116	colon:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
44	CEBPB	chr3:42871869-42872219	K562	blood:	n/a	n/a
45	CEBPB	chr3:42877995-42878491	K562	blood:	n/a	n/a
46	CEBPB	chr3:42872665-42873053	K562	blood:	n/a	n/a
47	CEBPB	chr3:42861329-42861881	MCF-7	breast:	n/a	chr3:42861577-42861588 chr3:42861579-42861590 chr3:42861577-42861590
48	CEBPD	chr3:42877943-42878563	K562	blood:	n/a	n/a
49	CEBPD	chr3:42877981-42878497	K562	blood:	n/a	n/a
50	CHD2	chr3:42872780-42873039	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:42865232-42865282	HepG2	liver:	n/a
2	chr3:42865232-42865282	Jurkat	blood:	n/a
3	chr3:42865232-42865282	Hela-S3	cervix:	n/a
4	chr3:42865232-42865282	PANC-1	pancreas:	n/a
5	chr3:42865232-42865282	CMK	blood:	n/a
6	chr3:42865232-42865282	LNCaP	prostate:	n/a
7	chr3:42865232-42865282	SKMC	muscle:	n/a
8	chr3:42865232-42865282	BE2_C	brain:	n/a
9	chr3:42865232-42865282	GM12891	blood:	n/a
10	chr3:42865232-42865282	HCPEpiC	choroid plexus:	n/a
11	chr3:42865232-42865282	HUVEC	blood vessel:	n/a
12	chr3:42865232-42865282	NHDF-neo	bronchial:	n/a
13	chr3:42865232-42865282	K562	blood:	n/a
14	chr3:42865232-42865282	ECC-1	luminal epithelium:	n/a
15	chr3:42865232-42865282	NH-A	brain:	n/a
16	chr3:42865232-42865282	HMEC	breast:	n/a
17	chr3:42865232-42865282	BJ	skin:	n/a
18	chr3:42865232-42865282	HEEpiC	esophagus:	n/a
19	chr3:42865232-42865282	H1-hESC	embryonic stem cell:	embryo
20	chr3:42865232-42865282	ProgFib	skin:	n/a
21	chr3:42865232-42865282	AG09309	skin:	n/a
22	chr3:42865232-42865282	HL-60	blood:	n/a
23	chr3:42865232-42865282	SK-N-SH	brain:	n/a
24	chr3:42865232-42865282	PFSK-1	brain:	n/a
25	chr3:42865232-42865282	HRPEpiC	eye:	n/a
26	chr3:42865232-42865282	AoSMC	blood vessel:	n/a
27	chr3:42865232-42865282	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:42865232-42865282	HIPEpiC	eye:	n/a
29	chr3:42865232-42865282	AG09319	gingival:	n/a
30	chr3:42865232-42865282	HNPCEpiC	eye:	n/a
31	chr3:42865232-42865282	HCM	heart:	n/a
32	chr3:42865232-42865282	Caco-2	colon:	n/a
33	chr3:42865232-42865282	Hepatocyte	liver:	n/a
34	chr3:42865232-42865282	T-47D	breast:	n/a
35	chr3:42865232-42865282	HCT-116	colon:	n/a
36	chr3:42865232-42865282	GM12892	blood:	n/a
37	chr3:42865232-42865282	ovcar-3	ovarian:	n/a
38	chr3:42865232-42865282	HCF	heart:	n/a
39	chr3:42865232-42865282	AG04450	lung:	fetal
40	chr3:42865232-42865282	IMR90	lung:	fetal
41	chr3:42865232-42865282	GM12878	blood:	n/a
42	chr3:42865232-42865282	A549	lung:	n/a
43	chr3:42865232-42865282	PrEC	prostate:	n/a
44	chr3:42865232-42865282	AG10803	skin:	n/a
45	chr3:42865232-42865282	MCF10A-Er-Src	breast:	n/a
46	chr3:42865232-42865282	HEK293	kidney:	embryo
47	chr3:42865232-42865282	MCF-7	breast:	n/a
48	chr3:42865232-42865282	GM19239	blood:	n/a
49	chr3:42865232-42865282	SK-N-MC	brain:	n/a
50	chr3:42865232-42865282	NHBE	bronchial:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:42498691..42499228-chr3:42872029..42872609,2	K562	blood:
2	chr3:42819275..42824150-chr3:42869754..42873104,6	MCF-7	breast:
3	chr3:42872976..42875668-chr3:42876768..42879415,2	K562	blood:
4	chr3:42844662..42847218-chr3:42877933..42880051,2	K562	blood:
5	chr3:42786102..42786737-chr3:42871539..42872144,2	MCF-7	breast:
6	chr3:42825664..42827247-chr3:42863922..42866111,2	MCF-7	breast:
7	chr3:42863648..42866062-chr3:42870307..42872848,2	K562	blood:
8	chr3:42813432..42816285-chr3:42861675..42864587,2	MCF-7	breast:
9	chr3:42861246..42861804-chr3:42896698..42897418,2	MCF-7	breast:
10	chr3:42621913..42623887-chr3:42869494..42872391,2	MCF-7	breast:
11	chr3:42822059..42823039-chr3:42871468..42872331,5	MCF-7	breast:
12	chr3:42863918..42866711-chr3:42866825..42870903,9	MCF-7	breast:
13	chr3:42869285..42872521-chr3:42879502..42882815,4	MCF-7	breast:
14	chr3:42860498..42863136-chr3:42870179..42871848,2	K562	blood:
15	chr3:42871763..42874394-chr3:42895423..42898286,3	MCF-7	breast:
16	chr3:42795565..42797413-chr3:42869940..42872735,2	MCF-7	breast:
17	chr3:42846757..42848695-chr3:42854131..42856830,2	K562	blood:
18	chr3:42866999..42869697-chr3:42869826..42873026,3	K562	blood:
19	chr3:42871457..42873559-chr3:42921313..42923126,29	K562	blood:
20	chr3:42864895..42866397-chr3:42889838..42892299,2	K562	blood:
21	chr3:42872464..42873150-chr3:42880873..42881432,2	K562	blood:
22	chr3:42863918..42866711-chr3:42866825..42870903,9	MCF-7	breast:
23	chr3:42872976..42874895-chr3:42876768..42879479,3	K562	blood:
24	chr3:42629985..42631739-chr3:42857764..42859472,2	MCF-7	breast:
25	chr3:42823380..42825503-chr3:42869037..42871310,2	MCF-7	breast:
26	chr3:42871994..42873616-chr3:42921171..42922839,2	MCF-7	breast:
27	chr3:42872976..42875668-chr3:42876768..42879415,2	K562	blood:
28	chr3:42871820..42873679-chr3:42920996..42922942,2	MCF-7	breast:
29	chr3:42863648..42866062-chr3:42870307..42872848,2	K562	blood:
30	chr3:42843852..42846098-chr3:42879642..42881848,2	MCF-7	breast:
31	chr3:42871689..42874325-chr3:42876312..42878805,3	MCF-7	breast:
32	chr3:42841845..42845236-chr3:42855285..42858253,3	K562	blood:
33	chr3:42872603..42873488-chr3:42922115..42923031,5	MCF-7	breast:
34	chr3:42869285..42872521-chr3:42879502..42882815,4	MCF-7	breast:
35	chr3:42878560..42881029-chr3:42892878..42894664,2	MCF-7	breast:
36	chr3:42529061..42531900-chr3:42871656..42873473,2	MCF-7	breast:
37	chr3:42871689..42874325-chr3:42876312..42878805,3	MCF-7	breast:
38	chr3:42853502..42856729-chr3:42859080..42861862,4	MCF-7	breast:
39	chr3:42825788..42828570-chr3:42866080..42867830,2	K562	blood:
40	chr3:42866999..42869697-chr3:42869826..42873026,3	K562	blood:
41	chr3:42854558..42863000-chr3:42863307..42874321,18	MCF-7	breast:
42	chr3:42872976..42874895-chr3:42876768..42879479,3	K562	blood:
43	chr3:42866915..42869697-chr3:42869826..42874147,5	K562	blood:
44	chr3:42695556..42698208-chr3:42859174..42860846,2	MCF-7	breast:
45	chr3:42866915..42869697-chr3:42869826..42874147,5	K562	blood:
46	chr3:42872135..42872993-chr3:42922252..42923146,3	MCF-7	breast:
47	chr3:42159961..42160701-chr3:42871951..42872902,2	K562	blood:
48	chr3:42821500..42822997-chr3:42871419..42873013,19	K562	blood:
49	chr3:42842006..42848504-chr3:42854036..42858354,7	K562	blood:
50	chr3:42598680..42600793-chr3:42870781..42872933,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRBOX1-1	chr3:42861123-42861203	NONHSAT089268
2	lnc-KRBOX1-1	chr3:42861123-42861203	ENSG00000273328.1
3	lnc-KRBOX1-1	chr3:42861123-42861203	ENSG00000273328.1
4	lnc-KRBOX1-1	chr3:42861123-42861203	ENSG00000273328.1

No data

Variant related genes	Relation type
ACKR2	TF binding region
ACKR2	CpG island
ENSG00000235288	chromatin interactions
ENSG00000093183	chromatin interactions
ENSG00000181061	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000244607	chromatin interactions
ENSG00000114812	chromatin interactions
ENSG00000230084	chromatin interactions
ENSG00000144648	chromatin interactions

Extended variants
information (count: 861 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4683335	chr3:42855765-42855766	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571747963	chr3:42855766-42855767	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542679001	chr3:42855819-42855820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189759667	chr3:42855842-42855843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558952622	chr3:42855863-42855864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371012190	chr3:42855866-42855867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35302384	chr3:42855881-42855882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528064235	chr3:42855933-42855934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551305656	chr3:42855975-42855976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138742263	chr3:42856043-42856044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142781908	chr3:42856076-42856077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145021030	chr3:42856126-42856127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567424268	chr3:42856148-42856149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148293758	chr3:42856172-42856173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549438100	chr3:42856223-42856224	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566119794	chr3:42856225-42856226	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183407447	chr3:42856301-42856302	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs13062528	chr3:42856350-42856351	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578252202	chr3:42856411-42856412	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs187947784	chr3:42856441-42856442	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557294383	chr3:42856513-42856514	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs193202639	chr3:42856541-42856542	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs542394783	chr3:42856616-42856617	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs557438752	chr3:42856617-42856618	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs572552098	chr3:42856626-42856627	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs141494518	chr3:42856627-42856628	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs184981909	chr3:42856650-42856651	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs530734692	chr3:42856654-42856655	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371106694	chr3:42856668-42856669	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550827663	chr3:42856733-42856734	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377397410	chr3:42856752-42856753	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560956570	chr3:42856776-42856777	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536908096	chr3:42856798-42856799	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs555320493	chr3:42856902-42856903	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs563890633	chr3:42856952-42856953	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs187789610	chr3:42857033-42857034	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs535077504	chr3:42857095-42857096	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs35505572	chr3:42857145-42857146	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs551816379	chr3:42857166-42857167	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571641539	chr3:42857202-42857203	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537372264	chr3:42857228-42857229	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs112647965	chr3:42857264-42857265	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs74396859	chr3:42857285-42857286	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573331319	chr3:42857307-42857308	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs62246639	chr3:42857324-42857325	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552774345	chr3:42857336-42857337	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs376761597	chr3:42857382-42857383	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs572615730	chr3:42857484-42857485	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544673865	chr3:42857545-42857546	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs111824113	chr3:42857586-42857587	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
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
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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	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
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42846800-42856400	Weak transcription	Right Atrium	heart
2	chr3:42847200-42856400	Weak transcription	NHEK	skin
3	chr3:42847400-42856200	Weak transcription	Colonic Mucosa	Colon
4	chr3:42849800-42856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:42853200-42856200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:42853200-42856600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:42853200-42858600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:42853600-42856000	Weak transcription	Stomach Mucosa	stomach
9	chr3:42853600-42856400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:42853800-42855800	Weak transcription	HepG2	liver
11	chr3:42853800-42856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:42853800-42861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:42853800-42861200	Weak transcription	Fetal Intestine Large	intestine
14	chr3:42853800-42862200	Weak transcription	Fetal Intestine Small	intestine
15	chr3:42854000-42856600	Weak transcription	Fetal Kidney	kidney
16	chr3:42854200-42856200	Weak transcription	Placenta	Placenta
17	chr3:42854200-42861200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:42854800-42858000	Enhancers	Fetal Heart	heart
19	chr3:42855000-42855800	ZNF genes & repeats	K562	blood
20	chr3:42855000-42857600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:42855600-42856400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr3:42855600-42857400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:42855800-42857400	Enhancers	K562	blood
24	chr3:42855800-42857800	Enhancers	HepG2	liver
25	chr3:42856000-42856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:42856000-42857200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:42856000-42857600	Enhancers	Stomach Mucosa	stomach
28	chr3:42856000-42857800	Enhancers	Hela-S3	cervix
29	chr3:42856200-42856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:42856200-42856400	Enhancers	Colonic Mucosa	Colon
31	chr3:42856200-42857000	Enhancers	Placenta	Placenta
32	chr3:42856200-42857200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:42856200-42857400	Enhancers	Stomach Smooth Muscle	stomach
34	chr3:42856200-42857400	Enhancers	HMEC	breast
35	chr3:42856200-42858000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:42856400-42856600	Enhancers	Right Atrium	heart
37	chr3:42856400-42856800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:42856400-42856800	Weak transcription	Colonic Mucosa	Colon
39	chr3:42856400-42856800	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
40	chr3:42856400-42857000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:42856400-42857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:42856400-42857400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:42856400-42857400	Enhancers	Right Ventricle	heart
44	chr3:42856400-42857400	Enhancers	NHEK	skin
45	chr3:42856400-42857800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:42856400-42857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:42856400-42858200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr3:42856600-42857000	Enhancers	Adipose Nuclei	Adipose
49	chr3:42856600-42857200	Enhancers	Fetal Kidney	kidney
50	chr3:42856600-42857400	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links