Variant report

Variant	esv3439902
Chromosome Location	chr12:51610260-51612758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:833)
CpG islands
(count:549)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:51611729-51612206	K562	blood:	n/a	chr12:51611853-51611861
2	ARID3A	chr12:51610953-51611047	HepG2	liver:	n/a	n/a
3	BACH1	chr12:51611780-51611873	K562	blood:	n/a	n/a
4	BCL11A	chr12:51611796-51611935	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:51611768-51612506	A549	lung:	n/a	chr12:51612063-51612072
6	BCL3	chr12:51611952-51612585	A549	lung:	n/a	chr12:51612063-51612072
7	BCLAF1	chr12:51611762-51612577	GM12878	blood:	n/a	chr12:51612063-51612072
8	BHLHE40	chr12:51611736-51612222	K562	blood:	n/a	n/a
9	BHLHE40	chr12:51610869-51611118	GM12878	blood:	n/a	n/a
10	BHLHE40	chr12:51611722-51612323	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:51610937-51611086	K562	blood:	n/a	n/a
12	BRCA1	chr12:51611739-51612315	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr12:51610934-51611068	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr12:51612098-51612407	GM12878	blood:	n/a	n/a
15	CBX3	chr12:51611691-51612362	K562	blood:	n/a	n/a
16	CBX3	chr12:51612452-51613033	K562	blood:	n/a	n/a
17	CCNT2	chr12:51610840-51612115	K562	blood:	n/a	chr12:51611947-51611956 chr12:51611953-51611962 chr12:51611376-51611385
18	CCNT2	chr12:51612358-51612850	K562	blood:	n/a	n/a
19	CEBPB	chr12:51612082-51612269	K562	blood:	n/a	n/a
20	CEBPB	chr12:51611889-51612323	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:51612342-51612435	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
23	CHD1	chr12:51611769-51612397	GM12878	blood:	n/a	n/a
24	CHD1	chr12:51612019-51612433	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr12:51611737-51612232	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr12:51612724-51612890	HepG2	liver:	n/a	n/a
28	CHD2	chr12:51611879-51611951	HepG2	liver:	n/a	n/a
29	CHD2	chr12:51611688-51612882	K562	blood:	n/a	n/a
30	CHD2	chr12:51610927-51611270	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr12:51610992-51611164	K562	blood:	n/a	n/a
32	CHD2	chr12:51610938-51611126	GM12878	blood:	n/a	n/a
33	CHD2	chr12:51611686-51612641	GM12878	blood:	n/a	n/a
34	CREB1	chr12:51610873-51611289	A549	lung:	n/a	n/a
35	CREB1	chr12:51611613-51612296	A549	lung:	n/a	n/a
36	CREB1	chr12:51611688-51612041	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr12:51611571-51612371	GM12878	blood:	n/a	n/a
38	CTCF	chr12:51610740-51610890	HRE	kidney:	n/a	n/a
39	CTCF	chr12:51610940-51611090	HEK293	kidney:	n/a	n/a
40	CTCF	chr12:51612140-51612290	HVMF	connective:	n/a	n/a
41	CTCF	chr12:51611834-51611947	GM13977	blood:	n/a	n/a
42	CTCF	chr12:51611820-51611970	HepG2	liver:	n/a	n/a
43	CTCF	chr12:51611740-51611890	HCT-116	colon:	n/a	n/a
44	CTCF	chr12:51611800-51611950	AG09309	skin:	n/a	n/a
45	CTCF	chr12:51611780-51611930	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr12:51612140-51612290	GM12868	blood:	n/a	n/a
47	CTCF	chr12:51611000-51611150	SAEC	small airway:	n/a	chr12:51611129-51611142 chr12:51611124-51611142
48	CTCF	chr12:51612020-51612170	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr12:51611783-51612041	K562	blood:	n/a	n/a
50	CTCF	chr12:51611000-51611150	HBMEC	blood vessel:	n/a	chr12:51611129-51611142 chr12:51611124-51611142

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51610927-51610977	NHBE	bronchial:	n/a
2	chr12:51611826-51611876	HL-60	blood:	n/a
3	chr12:51611065-51611115	AG09319	gingival:	n/a
4	chr12:51610688-51610738	GM12892	blood:	n/a
5	chr12:51611224-51611274	HCM	heart:	n/a
6	chr12:51611356-51611406	BJ	skin:	n/a
7	chr12:51611065-51611115	HRPEpiC	eye:	n/a
8	chr12:51611224-51611274	HMEC	breast:	n/a
9	chr12:51611356-51611406	SAEC	small airway:	n/a
10	chr12:51610927-51610977	K562	blood:	n/a
11	chr12:51610688-51610738	NH-A	brain:	n/a
12	chr12:51611065-51611115	HAEpiC	amniotic membrane:	n/a
13	chr12:51611871-51611921	RPTEC	kidney:	n/a
14	chr12:51611871-51611921	HEEpiC	esophagus:	n/a
15	chr12:51611224-51611274	MCF-7	breast:	n/a
16	chr12:51611224-51611274	Hepatocyte	liver:	n/a
17	chr12:51611356-51611406	AG04449	skin:	fetal
18	chr12:51611600-51611650	HEK293	kidney:	embryo
19	chr12:51611871-51611921	NHBE	bronchial:	n/a
20	chr12:51611356-51611406	HNPCEpiC	eye:	n/a
21	chr12:51611826-51611876	U87	brain:	n/a
22	chr12:51611356-51611406	HCT-116	colon:	n/a
23	chr12:51612065-51612115	T-47D	breast:	n/a
24	chr12:51611871-51611921	AG09319	gingival:	n/a
25	chr12:51611600-51611650	RPTEC	kidney:	n/a
26	chr12:51611356-51611406	U87	brain:	n/a
27	chr12:51611600-51611650	BJ	skin:	n/a
28	chr12:51611065-51611115	HEK293	kidney:	embryo
29	chr12:51611065-51611115	PANC-1	pancreas:	n/a
30	chr12:51611224-51611274	GM12892	blood:	n/a
31	chr12:51611065-51611115	MCF-7	breast:	n/a
32	chr12:51611065-51611115	GM12892	blood:	n/a
33	chr12:51611600-51611650	HIPEpiC	eye:	n/a
34	chr12:51611871-51611921	AG04450	lung:	fetal
35	chr12:51611600-51611650	AG09309	skin:	n/a
36	chr12:51610927-51610977	SAEC	small airway:	n/a
37	chr12:51612065-51612115	CMK	blood:	n/a
38	chr12:51611224-51611274	SAEC	small airway:	n/a
39	chr12:51611826-51611876	PrEC	prostate:	n/a
40	chr12:51611065-51611115	ProgFib	skin:	n/a
41	chr12:51611871-51611921	HCT-116	colon:	n/a
42	chr12:51611065-51611115	NHBE	bronchial:	n/a
43	chr12:51612065-51612115	HUVEC	blood vessel:	n/a
44	chr12:51611826-51611876	HRE	kidney:	n/a
45	chr12:51610927-51610977	NT2-D1	testis:	n/a
46	chr12:51611224-51611274	HCT-116	colon:	n/a
47	chr12:51611871-51611921	PrEC	prostate:	n/a
48	chr12:51611065-51611115	AG09309	skin:	n/a
49	chr12:51611356-51611406	A549	lung:	n/a
50	chr12:51611600-51611650	HepG2	liver:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
2	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
3	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
4	chr12:51611211..51612521-chr12:108954486..108955762,3	Hela-S3	cervix:
5	chr12:51441675..51442301-chr12:51611617..51612286,2	MCF-7	breast:
6	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
7	chr12:51157569..51160516-chr12:51611731..51613525,2	K562	blood:
8	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
9	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
10	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
11	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
12	chr12:51440554..51443122-chr12:51610984..51612842,2	K562	blood:
13	chr12:51157569..51159359-chr12:51611731..51613454,2	K562	blood:
14	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
15	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:
16	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
17	chr12:51545382..51548232-chr12:51608906..51610842,2	K562	blood:
18	chr12:51611611..51612296-chr5:137805483..137805987,2	HCT-116	colon:
19	chr12:51611474..51612337-chr19:19626938..19627537,2	Hela-S3	cervix:
20	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
21	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
22	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
23	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
24	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
25	chr12:51610705..51611579-chr12:51632548..51633161,2	NB4	blood:
26	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
27	chr12:51610103..51612152-chr3:63848068..63850796,2	MCF-7	breast:
28	chr1:17231308..17231913-chr12:51612141..51612873,2	Hela-S3	cervix:
29	chr12:51612109..51612903-chr12:51632289..51632985,2	K562	blood:
30	chr11:62420332..62421199-chr12:51611516..51612196,2	Hela-S3	cervix:
31	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
32	chr12:51612487..51613125-chr8:117886493..117887056,2	Hela-S3	cervix:
33	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
34	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
35	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-3	chr12:51611479-51615172	NONHSAT028246

No data

Variant related genes	Relation type
POU6F1	TF binding region
POU6F1	CpG island
ENSG00000185085	chromatin interactions
ENSG00000186010	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000075856	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000164754	chromatin interactions
ENSG00000269339	chromatin interactions
ENSG00000258674	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000264875	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000184271	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12370642	chr12:51610305-51610306	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs557430231	chr12:51610345-51610346	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs574140201	chr12:51610362-51610363	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs7399018	chr12:51610365-51610366	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs559469163	chr12:51610398-51610399	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs79680464	chr12:51610408-51610409	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs545219527	chr12:51610462-51610463	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs6580810	chr12:51610478-51610479	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147865468	chr12:51610495-51610496	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs563865963	chr12:51610511-51610512	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs372927446	chr12:51610512-51610513	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs139897060	chr12:51610536-51610537	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs115500675	chr12:51610608-51610609	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs529767965	chr12:51610670-51610671	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs188635924	chr12:51610672-51610673	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs566594859	chr12:51610715-51610716	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs534883111	chr12:51610719-51610720	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs551996201	chr12:51610736-51610737	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs368860688	chr12:51610754-51610755	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs66996501	chr12:51610758-51610759	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs371334181	chr12:51610767-51610768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs149991311	chr12:51610840-51610841	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs115968579	chr12:51610841-51610842	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs557343037	chr12:51610896-51610897	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs567683505	chr12:51610905-51610906	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs368588801	chr12:51610969-51610970	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs553172879	chr12:51611057-51611058	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs372125591	chr12:51611108-51611109	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs114712685	chr12:51611115-51611116	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs544869433	chr12:51611140-51611141	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs558340680	chr12:51611156-51611157	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs575151184	chr12:51611218-51611219	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs145240648	chr12:51611282-51611283	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs560515110	chr12:51611311-51611312	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs529642113	chr12:51611383-51611384	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs60456495	chr12:51611451-51611452	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs559986529	chr12:51611457-51611458	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs532274239	chr12:51611580-51611581	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
39	rs546256316	chr12:51611583-51611584	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
40	rs551962182	chr12:51611661-51611662	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
41	rs571871681	chr12:51611675-51611676	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
42	rs60389775	chr12:51611679-51611680	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
43	rs531199798	chr12:51611698-51611699	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
44	rs180721442	chr12:51611716-51611717	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
45	rs536251368	chr12:51611758-51611759	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
46	rs550307127	chr12:51611761-51611762	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
47	rs553374217	chr12:51611764-51611765	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
48	rs115671344	chr12:51611779-51611780	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
49	rs539259135	chr12:51611796-51611797	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
50	rs539126564	chr12:51611798-51611799	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
3	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:51590800-51610400	Weak transcription	HSMMtube	muscle
7	chr12:51592400-51610600	Weak transcription	Pancreas	Pancrea
8	chr12:51592400-51610800	Weak transcription	Esophagus	oesophagus
9	chr12:51592800-51610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51594400-51610400	Weak transcription	Liver	Liver
11	chr12:51595200-51610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:51595600-51610400	Weak transcription	NH-A	brain
13	chr12:51597400-51611000	Weak transcription	Primary T cells from cord blood	blood
14	chr12:51597600-51610400	Weak transcription	Fetal Lung	lung
15	chr12:51597800-51610400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:51598000-51610400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:51598000-51610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:51598200-51610400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:51598200-51610600	Weak transcription	Fetal Intestine Small	intestine
20	chr12:51598200-51610600	Weak transcription	Gastric	stomach
21	chr12:51598400-51610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:51598400-51610400	Weak transcription	Ovary	ovary
23	chr12:51599400-51610400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:51599400-51610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:51601600-51610600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:51602400-51610400	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:51602400-51610600	Weak transcription	Left Ventricle	heart
28	chr12:51604400-51610600	Weak transcription	Small Intestine	intestine
29	chr12:51604800-51610600	Weak transcription	Aorta	Aorta
30	chr12:51604800-51610600	Weak transcription	Lung	lung
31	chr12:51605000-51611000	Weak transcription	Spleen	Spleen
32	chr12:51605400-51610600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:51605600-51610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:51605600-51610600	Weak transcription	Fetal Intestine Large	intestine
35	chr12:51605800-51610600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:51607000-51610600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:51607200-51610400	Weak transcription	Hela-S3	cervix
38	chr12:51607600-51610400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:51608000-51610400	Weak transcription	HUVEC	blood vessel
40	chr12:51608400-51610400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:51608800-51610600	Weak transcription	Fetal Stomach	stomach
42	chr12:51609400-51610400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:51610000-51610400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:51610000-51610400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:51610000-51610400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr12:51610000-51610400	Enhancers	K562	blood
47	chr12:51610000-51610800	Flanking Active TSS	Fetal Brain Female	brain
48	chr12:51610200-51610400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:51610200-51610400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:51610200-51610400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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