Variant report

Variant	esv3423079
Chromosome Location	chr12:10874310-10876858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:10875895-10875971	K562	blood:	n/a	n/a
2	ATF2	chr12:10874383-10874871	GM12878	blood:	n/a	n/a
3	ATF2	chr12:10874523-10875242	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr12:10874364-10874926	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:10874237-10874999	GM12878	blood:	n/a	n/a
6	ATF3	chr12:10874465-10875230	A549	lung:	n/a	n/a
7	ATF3	chr12:10874379-10875124	A549	lung:	n/a	n/a
8	BACH1	chr12:10874623-10875249	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:10875920-10876247	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr12:10874356-10875172	A549	lung:	n/a	n/a
11	BCL3	chr12:10874336-10875119	A549	lung:	n/a	n/a
12	BCL3	chr12:10875086-10875529	GM12878	blood:	n/a	chr12:10875417-10875430
13	BCLAF1	chr12:10874254-10875464	GM12878	blood:	n/a	chr12:10875417-10875430
14	BCLAF1	chr12:10874357-10875472	GM12878	blood:	n/a	chr12:10875417-10875430
15	BHLHE40	chr12:10874129-10876077	GM12878	blood:	n/a	chr12:10875803-10875819 chr12:10875390-10875406 chr12:10875781-10875797 chr12:10875827-10875843 chr12:10875828-10875844
16	BHLHE40	chr12:10876309-10876675	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:10874455-10875559	HepG2	liver:	n/a	chr12:10875390-10875406
18	BHLHE40	chr12:10875844-10875882	K562	blood:	n/a	n/a
19	BHLHE40	chr12:10874530-10875567	K562	blood:	n/a	chr12:10875390-10875406
20	BRCA1	chr12:10876086-10876087	GM12878	blood:	n/a	n/a
21	BRCA1	chr12:10874700-10875014	HepG2	liver:	n/a	n/a
22	BRCA1	chr12:10874375-10875238	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr12:10875862-10876785	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr12:10874957-10875151	GM12878	blood:	n/a	n/a
25	BRCA1	chr12:10874592-10875073	H1-hESC	embryonic stem cell:	n/a	n/a
26	CCNT2	chr12:10874715-10876169	K562	blood:	n/a	n/a
27	CEBPB	chr12:10874489-10875037	H1-hESC	embryonic stem cell:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
28	CEBPB	chr12:10874522-10875070	A549	lung:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
29	CEBPB	chr12:10874565-10875028	HepG2	liver:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
30	CEBPB	chr12:10874562-10875042	HepG2	liver:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
31	CEBPB	chr12:10876260-10876377	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr12:10874683-10874964	HepG2	liver:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
33	CEBPB	chr12:10874254-10875296	HCT-116	colon:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
34	CEBPB	chr12:10874472-10875180	A549	lung:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
35	CEBPB	chr12:10874294-10875215	IMR90	lung:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
36	CEBPB	chr12:10876109-10876121	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:10874347-10875485	A549	lung:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
38	CEBPB	chr12:10874319-10875194	Hela-S3	cervix:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
39	CEBPB	chr12:10874445-10875315	ECC-1	luminal epithelium:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
40	CEBPB	chr12:10874284-10875063	GM12878	blood:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
41	CEBPB	chr12:10875769-10876625	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr12:10874196-10875452	HCT-116	colon:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
43	CEBPB	chr12:10874621-10875043	HepG2	liver:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
44	CEBPB	chr12:10874463-10875167	MCF-7	breast:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
45	CEBPB	chr12:10874539-10875136	K562	blood:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
46	CEBPB	chr12:10874507-10875113	ECC-1	luminal epithelium:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
47	CEBPB	chr12:10874631-10874994	K562	blood:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
48	CEBPB	chr12:10874528-10875137	MCF-7	breast:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
49	CEBPB	chr12:10874456-10875191	K562	blood:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
50	CEBPD	chr12:10874661-10874984	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10876177-10876227	PFSK-1	brain:	n/a
2	chr12:10876177-10876227	PFSK-1	brain:	n/a
3	chr12:10875909-10875959	Caco-2	colon:	n/a
4	chr12:10876230-10876280	NT2-D1	testis:	n/a
5	chr12:10876062-10876112	GM12891	blood:	n/a
6	chr12:10876057-10876107	HRE	kidney:	n/a
7	chr12:10876163-10876213	RPTEC	kidney:	n/a
8	chr12:10876057-10876107	RPTEC	kidney:	n/a
9	chr12:10875369-10875419	AG04449	skin:	fetal
10	chr12:10875909-10875959	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:10876230-10876280	HAEpiC	amniotic membrane:	n/a
12	chr12:10875909-10875959	HMEC	breast:	n/a
13	chr12:10876163-10876213	HIPEpiC	eye:	n/a
14	chr12:10874734-10874784	BJ	skin:	n/a
15	chr12:10875874-10875924	AG10803	skin:	n/a
16	chr12:10876053-10876103	Caco-2	colon:	n/a
17	chr12:10875874-10875924	HIPEpiC	eye:	n/a
18	chr12:10876057-10876107	AG04450	lung:	fetal
19	chr12:10874734-10874784	ovcar-3	ovarian:	n/a
20	chr12:10875874-10875924	PANC-1	pancreas:	n/a
21	chr12:10876177-10876227	U87	brain:	n/a
22	chr12:10876163-10876213	AG04450	lung:	fetal
23	chr12:10875909-10875959	HCPEpiC	choroid plexus:	n/a
24	chr12:10876230-10876280	AG09309	skin:	n/a
25	chr12:10874734-10874784	PFSK-1	brain:	n/a
26	chr12:10876177-10876227	HUVEC	blood vessel:	n/a
27	chr12:10874734-10874784	GM12878	blood:	n/a
28	chr12:10876163-10876213	NB4	blood:	n/a
29	chr12:10876242-10876292	AG04449	skin:	fetal
30	chr12:10876062-10876112	AG04450	lung:	fetal
31	chr12:10876062-10876112	RPTEC	kidney:	n/a
32	chr12:10876053-10876103	H1-hESC	embryonic stem cell:	embryo
33	chr12:10875874-10875924	Hela-S3	cervix:	n/a
34	chr12:10876053-10876103	AoSMC	blood vessel:	n/a
35	chr12:10876053-10876103	HAEpiC	amniotic membrane:	n/a
36	chr12:10876057-10876107	SKMC	muscle:	n/a
37	chr12:10876062-10876112	Hela-S3	cervix:	n/a
38	chr12:10876053-10876103	IMR90	lung:	fetal
39	chr12:10876230-10876280	AoSMC	blood vessel:	n/a
40	chr12:10876062-10876112	HCPEpiC	choroid plexus:	n/a
41	chr12:10876163-10876213	HCT-116	colon:	n/a
42	chr12:10876242-10876292	HCPEpiC	choroid plexus:	n/a
43	chr12:10876163-10876213	HNPCEpiC	eye:	n/a
44	chr12:10876242-10876292	NHDF-neo	bronchial:	n/a
45	chr12:10875369-10875419	HRCEpiC	kidney:	n/a
46	chr12:10875369-10875419	HRPEpiC	eye:	n/a
47	chr12:10876163-10876213	GM19239	blood:	n/a
48	chr12:10876057-10876107	BE2_C	brain:	n/a
49	chr12:10876057-10876107	HNPCEpiC	eye:	n/a
50	chr12:10876177-10876227	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10860643..10864098-chr12:10874178..10877210,3	MCF-7	breast:
2	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
3	chr12:10873685..10876806-chr12:10901229..10904377,4	K562	blood:
4	chr12:10870598..10876467-chr12:10900594..10904029,6	MCF-7	breast:
5	chr12:10874717..10875667-chr16:2264655..2265457,2	Hela-S3	cervix:
6	chr12:10876078..10877207-chr12:10902879..10903524,3	K562	blood:
7	chr12:10875828..10876535-chr21:47743379..47744043,2	Hela-S3	cervix:
8	chr12:10875091..10875955-chr9:21334907..21335831,2	NB4	blood:
9	chr12:10862390..10866063-chr12:10873354..10875094,3	K562	blood:
10	chr12:10875465..10876365-chr7:33101971..33102799,2	NB4	blood:
11	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:
12	chr12:10872352..10877950-chr12:10900438..10904327,7	K562	blood:
13	chr12:10365073..10366945-chr12:10874439..10876168,2	K562	blood:
14	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
15	chr12:10873260..10876044-chr19:39898902..39901663,2	K562	blood:
16	chr12:10876830..10879368-chr12:10883981..10885667,2	K562	blood:
17	chr12:10859983..10863988-chr12:10873380..10877073,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STYK1-2	chr12:10875449-10875508	NONHSAT026896

Variant related genes	Relation type
YBX3	TF binding region
YBX3	CpG island
ENSG00000256888	chromatin interactions
ENSG00000060138	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000122643	chromatin interactions
ENSG00000184207	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000139112	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000198642	chromatin interactions
ENSG00000111196	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145254993	chr12:10874339-10874340	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs537268310	chr12:10874399-10874400	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs529951997	chr12:10874401-10874402	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs73044678	chr12:10874415-10874416	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs563119381	chr12:10874419-10874420	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs532369367	chr12:10874431-10874432	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs551974889	chr12:10874452-10874453	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs565812643	chr12:10874453-10874454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs141289355	chr12:10874457-10874458	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs548225934	chr12:10874503-10874504	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs567934483	chr12:10874517-10874518	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs536926056	chr12:10874534-10874535	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs556932576	chr12:10874586-10874587	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs553965422	chr12:10874607-10874608	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs369333418	chr12:10874620-10874621	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs146983743	chr12:10874644-10874645	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs372142487	chr12:10874675-10874676	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs558735496	chr12:10874695-10874696	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs572512005	chr12:10874711-10874712	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs540991772	chr12:10874767-10874768	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs554564322	chr12:10874832-10874833	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs574519350	chr12:10874887-10874888	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs138156797	chr12:10874891-10874892	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs563281845	chr12:10874910-10874911	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs577043496	chr12:10874919-10874920	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs576958150	chr12:10874930-10874931	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs545991643	chr12:10874943-10874944	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs537054964	chr12:10874991-10874992	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs528213598	chr12:10875015-10875016	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs565267820	chr12:10875042-10875043	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs548334281	chr12:10875046-10875047	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs376281268	chr12:10875056-10875057	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs539321864	chr12:10875066-10875067	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs74063018	chr12:10875101-10875102	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs375266641	chr12:10875216-10875217	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs570331359	chr12:10875248-10875249	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs556056574	chr12:10875262-10875263	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs184591240	chr12:10875270-10875271	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs566030274	chr12:10875285-10875286	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs552753122	chr12:10875334-10875335	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs566011560	chr12:10875393-10875394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs534771208	chr12:10875394-10875395	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs373690953	chr12:10875420-10875421	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs368743648	chr12:10875428-10875429	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs575594960	chr12:10875438-10875439	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs371143475	chr12:10875443-10875444	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs537091643	chr12:10875464-10875465	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs556926979	chr12:10875486-10875487	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs1126501	chr12:10875488-10875489	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545653614	chr12:10875496-10875497	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10862800-10874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10862800-10874600	Weak transcription	Spleen	Spleen
3	chr12:10868600-10874400	Flanking Active TSS	HUVEC	blood vessel
4	chr12:10869000-10874600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:10870400-10877000	Active TSS	Psoas Muscle	Psoas
6	chr12:10871200-10876400	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr12:10871400-10877000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:10871800-10874600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:10872400-10875000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:10872400-10876200	Active TSS	Brain Hippocampus Middle	brain
11	chr12:10872400-10876800	Active TSS	Right Ventricle	heart
12	chr12:10872400-10877000	Active TSS	Right Atrium	heart
13	chr12:10872600-10876200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:10872800-10874600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:10872800-10874600	Flanking Active TSS	Hela-S3	cervix
16	chr12:10873000-10875000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:10873000-10875200	Active TSS	Thymus	Thymus
18	chr12:10873000-10876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:10873000-10876600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:10873000-10876600	Active TSS	HSMMtube	muscle
21	chr12:10873000-10876800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:10873000-10876800	Active TSS	Aorta	Aorta
23	chr12:10873200-10874400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:10873200-10874800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:10873200-10876200	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:10873200-10876600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr12:10873200-10877000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:10873400-10874400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr12:10873600-10874400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:10873600-10874400	Flanking Active TSS	Osteobl	bone
31	chr12:10873600-10874600	Flanking Active TSS	Stomach Mucosa	stomach
32	chr12:10873600-10874800	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:10873600-10875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:10873600-10875200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr12:10873600-10875200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:10873600-10875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:10873600-10875400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr12:10873600-10875400	Flanking Active TSS	Dnd41	blood
39	chr12:10873600-10875600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:10873600-10876200	Active TSS	A549	lung
41	chr12:10873600-10876400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:10873600-10876600	Active TSS	Left Ventricle	heart
43	chr12:10873600-10876600	Active TSS	Lung	lung
44	chr12:10873600-10876800	Active TSS	Fetal Muscle Trunk	muscle
45	chr12:10873800-10874400	Active TSS	Brain Angular Gyrus	brain
46	chr12:10873800-10874400	Flanking Active TSS	Fetal Lung	lung
47	chr12:10873800-10874600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:10873800-10874600	Active TSS	Liver	Liver
49	chr12:10873800-10874600	Flanking Active TSS	Fetal Heart	heart
50	chr12:10873800-10874800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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