Variant report

Variant	esv3436441
Chromosome Location	chr12:33048510-33051058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:376)
CpG islands
(count:427)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:33049969-33050169	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:33048500-33048992	HepG2	liver:	n/a	n/a
3	BACH1	chr12:33049894-33050256	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:33049923-33050303	K562	blood:	n/a	n/a
5	BHLHE40	chr12:33049632-33050306	HepG2	liver:	n/a	chr12:33049870-33049886
6	BRCA1	chr12:33049921-33050446	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr12:33050089-33050272	HepG2	liver:	n/a	n/a
8	CCNT2	chr12:33049670-33050245	K562	blood:	n/a	n/a
9	CEBPB	chr12:33048686-33048922	K562	blood:	n/a	n/a
10	CEBPB	chr12:33048295-33049000	HepG2	liver:	n/a	chr12:33048453-33048464
11	CEBPD	chr12:33049486-33050147	HepG2	liver:	n/a	n/a
12	CHD1	chr12:33048538-33048755	H1-hESC	embryonic stem cell:	n/a	chr12:33048646-33048656
13	CHD2	chr12:33049379-33050338	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr12:33050082-33050104	K562	blood:	n/a	n/a
15	CHD2	chr12:33050027-33050207	HepG2	liver:	n/a	n/a
16	CREB1	chr12:33049951-33050338	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr12:33048680-33048870	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:33048676-33048852	A549	lung:	n/a	n/a
19	CTCF	chr12:33048700-33048850	GM12867	blood:	n/a	n/a
20	CTCF	chr12:33048680-33048855	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:33049460-33049610	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr12:33048680-33048830	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr12:33048800-33048950	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr12:33048680-33048830	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr12:33048700-33048850	HepG2	liver:	n/a	n/a
26	CTCF	chr12:33048760-33048910	HCT-116	colon:	n/a	n/a
27	CTCF	chr12:33049694-33049763	MCF-7	breast:	n/a	chr12:33049727-33049740
28	CTCF	chr12:33048720-33048870	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr12:33048680-33048830	A549	lung:	n/a	n/a
30	CTCF	chr12:33048700-33048850	HCT-116	colon:	n/a	n/a
31	CTCF	chr12:33050080-33050129	K562	blood:	n/a	n/a
32	CTCF	chr12:33048660-33048810	K562	blood:	n/a	n/a
33	CTCF	chr12:33048700-33048850	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr12:33048707-33048843	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:33048700-33048850	K562	blood:	n/a	n/a
36	CTCF	chr12:33049697-33049761	MCF-7	breast:	n/a	chr12:33049727-33049740
37	CTCF	chr12:33048480-33048630	HEK293	kidney:	n/a	n/a
38	CTCF	chr12:33048660-33048810	HRE	kidney:	n/a	n/a
39	CTCF	chr12:33048700-33048850	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr12:33048582-33048883	HepG2	liver:	n/a	n/a
41	CTCF	chr12:33048680-33048830	Caco-2	colon:	n/a	n/a
42	CTCF	chr12:33048700-33048850	GM12864	blood:	n/a	n/a
43	CTCF	chr12:33048746-33048753	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr12:33048680-33048830	GM12870	blood:	n/a	n/a
45	CTCF	chr12:33048680-33048830	GM12871	blood:	n/a	n/a
46	CTCF	chr12:33048700-33048850	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr12:33048680-33048830	HEK293	kidney:	n/a	n/a
48	CTCF	chr12:33048660-33048810	HVMF	connective:	n/a	n/a
49	CTCF	chr12:33048660-33048810	GM12871	blood:	n/a	n/a
50	CTCF	chr12:33049622-33049746	HepG2	liver:	n/a	chr12:33049727-33049740

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:33049650-33049700	AG04449	skin:	fetal
2	chr12:33049671-33049721	HRE	kidney:	n/a
3	chr12:33049671-33049721	NHDF-neo	bronchial:	n/a
4	chr12:33049671-33049721	NT2-D1	testis:	n/a
5	chr12:33049650-33049700	HCM	heart:	n/a
6	chr12:33049650-33049700	GM12878	blood:	n/a
7	chr12:33049671-33049721	T-47D	breast:	n/a
8	chr12:33049671-33049721	HUVEC	blood vessel:	n/a
9	chr12:33049671-33049721	Jurkat	blood:	n/a
10	chr12:33048913-33048963	AG10803	skin:	n/a
11	chr12:33050173-33050223	T-47D	breast:	n/a
12	chr12:33050050-33050100	HUVEC	blood vessel:	n/a
13	chr12:33050217-33050267	HNPCEpiC	eye:	n/a
14	chr12:33050217-33050267	BJ	skin:	n/a
15	chr12:33050217-33050267	CMK	blood:	n/a
16	chr12:33050173-33050223	A549	lung:	n/a
17	chr12:33050173-33050223	ProgFib	skin:	n/a
18	chr12:33048913-33048963	GM12892	blood:	n/a
19	chr12:33048913-33048963	BE2_C	brain:	n/a
20	chr12:33049671-33049721	HEEpiC	esophagus:	n/a
21	chr12:33048913-33048963	IMR90	lung:	fetal
22	chr12:33048913-33048963	LNCaP	prostate:	n/a
23	chr12:33050050-33050100	HL-60	blood:	n/a
24	chr12:33050173-33050223	H1-hESC	embryonic stem cell:	embryo
25	chr12:33050173-33050223	SK-N-SH	brain:	n/a
26	chr12:33050217-33050267	HepG2	liver:	n/a
27	chr12:33049671-33049721	HEK293	kidney:	embryo
28	chr12:33049620-33049670	SKMC	muscle:	n/a
29	chr12:33050217-33050267	ProgFib	skin:	n/a
30	chr12:33050217-33050267	GM19239	blood:	n/a
31	chr12:33050050-33050100	HNPCEpiC	eye:	n/a
32	chr12:33049671-33049721	IMR90	lung:	fetal
33	chr12:33049620-33049670	NHDF-neo	bronchial:	n/a
34	chr12:33050173-33050223	Hepatocyte	liver:	n/a
35	chr12:33050217-33050267	AG09309	skin:	n/a
36	chr12:33050173-33050223	Hela-S3	cervix:	n/a
37	chr12:33049671-33049721	AoSMC	blood vessel:	n/a
38	chr12:33048913-33048963	NT2-D1	testis:	n/a
39	chr12:33050217-33050267	GM06990	blood:	n/a
40	chr12:33049650-33049700	AG09309	skin:	n/a
41	chr12:33050173-33050223	HAEpiC	amniotic membrane:	n/a
42	chr12:33050217-33050267	IMR90	lung:	fetal
43	chr12:33049650-33049700	H1-hESC	embryonic stem cell:	embryo
44	chr12:33049650-33049700	MCF10A-Er-Src	breast:	n/a
45	chr12:33050217-33050267	ECC-1	luminal epithelium:	n/a
46	chr12:33050173-33050223	HRPEpiC	eye:	n/a
47	chr12:33050050-33050100	U87	brain:	n/a
48	chr12:33049671-33049721	Hepatocyte	liver:	n/a
49	chr12:33049620-33049670	HCF	heart:	n/a
50	chr12:33048913-33048963	Caco-2	colon:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33049986..33050843-chr19:40926643..40927147,2	Hela-S3	cervix:
2	chr12:33050228..33050853-chr16:89882955..89883908,2	Hela-S3	cervix:
3	chr12:33050687..33051334-chr2:220117668..220118170,2	Hela-S3	cervix:
4	chr12:33049705..33050388-chr22:43011186..43011805,2	Hela-S3	cervix:
5	chr12:33049643..33050326-chr7:2393292..2394114,2	Hela-S3	cervix:
6	chr10:60027892..60028588-chr12:33049924..33050500,2	Hela-S3	cervix:
7	chr12:32908157..32910268-chr12:33048253..33050625,4	MCF-7	breast:
8	chr12:33047763..33049269-chr12:33060696..33063050,2	MCF-7	breast:
9	chr12:33050014..33052233-chr12:33059225..33060757,2	MCF-7	breast:
10	chr12:33049597..33050305-chr19:6424445..6424971,2	HCT-116	colon:
11	chr12:33050887..33052544-chr4:134775575..134778473,2	MCF-7	breast:
12	chr12:33049999..33050545-chr15:74832724..74833489,2	Hela-S3	cervix:
13	chr12:33049269..33050202-chr17:42422178..42423144,2	Hela-S3	cervix:
14	chr12:33049077..33050069-chr16:2317510..2318347,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PKP2	TF binding region
PKP2	CpG island
ENSG00000243910	chromatin interactions
ENSG00000088247	chromatin interactions
ENSG00000139131	chromatin interactions
ENSG00000106263	chromatin interactions
ENSG00000030582	chromatin interactions
ENSG00000205937	chromatin interactions
ENSG00000127824	chromatin interactions
ENSG00000106266	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000187741	chromatin interactions
ENSG00000260778	chromatin interactions
ENSG00000207715	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75183887	chr12:33048572-33048573	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542772805	chr12:33048618-33048619	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562526630	chr12:33048621-33048622	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7954545	chr12:33048743-33048744	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545319370	chr12:33048778-33048779	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565220114	chr12:33048806-33048807	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188667588	chr12:33048840-33048841	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373922883	chr12:33048853-33048854	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547419172	chr12:33048931-33048932	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147330168	chr12:33048946-33048947	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529770891	chr12:33048966-33048967	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558878149	chr12:33048988-33048989	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568250605	chr12:33048991-33048992	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181113405	chr12:33049006-33049007	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565280939	chr12:33049011-33049012	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529062021	chr12:33049028-33049029	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73090787	chr12:33049066-33049067	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183848238	chr12:33049154-33049155	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs78143613	chr12:33049157-33049158	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs139320588	chr12:33049166-33049167	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs367685254	chr12:33049174-33049175	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs73090788	chr12:33049208-33049209	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs371265448	chr12:33049209-33049210	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs574809429	chr12:33049216-33049217	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs566741024	chr12:33049239-33049240	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs537127376	chr12:33049284-33049285	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs189343703	chr12:33049301-33049302	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs576295154	chr12:33049307-33049308	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs368644193	chr12:33049320-33049321	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs565130831	chr12:33049395-33049396	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs572393473	chr12:33049409-33049410	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs397517019	chr12:33049452-33049453	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs75909145	chr12:33049457-33049458	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs144106848	chr12:33049468-33049469	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs397517014	chr12:33049471-33049472	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs139924723	chr12:33049472-33049473	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs199601548	chr12:33049482-33049483	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs146708884	chr12:33049492-33049493	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs201210997	chr12:33049510-33049511	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs549598534	chr12:33049511-33049512	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs397516997	chr12:33049515-33049516	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs143004808	chr12:33049590-33049591	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs397516996	chr12:33049652-33049653	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs397516991	chr12:33049654-33049655	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs373925978	chr12:33049687-33049688	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs552373947	chr12:33049755-33049756	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs565997897	chr12:33049764-33049765	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs187291890	chr12:33049781-33049782	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs548891721	chr12:33049816-33049817	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs568359962	chr12:33049817-33049818	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33044600-33048600	Active TSS	Left Ventricle	heart
2	chr12:33044600-33049200	Active TSS	Right Ventricle	heart
3	chr12:33044600-33050600	Active TSS	Right Atrium	heart
4	chr12:33045400-33051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:33046200-33048600	Active TSS	Colonic Mucosa	Colon
6	chr12:33046800-33050600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:33047000-33048600	Weak transcription	Lung	lung
8	chr12:33047000-33050200	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:33047200-33048600	Flanking Active TSS	NHEK	skin
10	chr12:33047200-33050400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:33047200-33050400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:33047400-33048600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:33047400-33050000	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:33047400-33050200	Active TSS	Stomach Mucosa	stomach
15	chr12:33047600-33048600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:33047600-33049600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr12:33047600-33050200	Active TSS	Fetal Heart	heart
18	chr12:33047800-33048600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:33047800-33050200	Active TSS	HMEC	breast
20	chr12:33047800-33050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:33047800-33050600	Active TSS	Placenta Amnion	Placenta Amnion
22	chr12:33048000-33048600	Active TSS	Placenta	Placenta
23	chr12:33048000-33048600	Active TSS	Fetal Stomach	stomach
24	chr12:33048000-33048800	Active TSS	HepG2	liver
25	chr12:33048200-33048600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:33048200-33048600	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr12:33048200-33049000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:33048200-33049000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr12:33048200-33049200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:33048200-33049600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:33048200-33050600	Active TSS	Ovary	ovary
32	chr12:33048200-33051200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:33048400-33048600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:33048400-33048600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr12:33048400-33048600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr12:33048400-33048600	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr12:33048400-33048600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
38	chr12:33048400-33048600	Active TSS	Brain Anterior Caudate	brain
39	chr12:33048400-33048600	Enhancers	Fetal Brain Female	brain
40	chr12:33048400-33048600	Active TSS	Pancreas	Pancrea
41	chr12:33048400-33048600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:33048400-33048600	Bivalent Enhancer	K562	blood
43	chr12:33048400-33048600	Flanking Bivalent TSS/Enh	NH-A	brain
44	chr12:33048400-33048800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:33048400-33048800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr12:33048400-33048800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:33048400-33048800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
48	chr12:33048400-33048800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr12:33048400-33048800	Flanking Bivalent TSS/Enh	A549	lung
50	chr12:33048400-33049000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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