Variant report

Variant	esv3326032
Chromosome Location	chr12:56881235-56884033
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	BACH1	chr12:56881224-56882526	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr12:56881336-56881486	K562	blood:	n/a	n/a
3	BHLHE40	chr12:56881269-56881655	HepG2	liver:	n/a	n/a
4	BHLHE40	chr12:56881326-56881612	GM12878	blood:	n/a	n/a
5	BRCA1	chr12:56882209-56882267	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:56882173-56882409	HepG2	liver:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
7	CEBPB	chr12:56882096-56882493	HepG2	liver:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
8	CEBPB	chr12:56882140-56882435	K562	blood:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
9	CEBPB	chr12:56882089-56882416	HepG2	liver:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
10	CEBPB	chr12:56882093-56882573	MCF-7	breast:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
11	CEBPB	chr12:56883379-56883550	A549	lung:	n/a	n/a
12	CEBPB	chr12:56882094-56882486	HepG2	liver:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
13	CEBPB	chr12:56882006-56882513	MCF-7	breast:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
14	CEBPB	chr12:56882110-56882466	A549	lung:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
15	CEBPB	chr12:56882036-56882588	A549	lung:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
16	CEBPB	chr12:56882062-56882517	ECC-1	luminal epithelium:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
17	CEBPB	chr12:56882047-56882570	ECC-1	luminal epithelium:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
18	CEBPB	chr12:56883375-56883565	K562	blood:	n/a	n/a
19	CEBPB	chr12:56882101-56882488	IMR90	lung:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
20	CEBPB	chr12:56882113-56882454	K562	blood:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
21	CEBPB	chr12:56882116-56882485	H1-hESC	embryonic stem cell:	n/a	chr12:56882295-56882312 chr12:56882269-56882280
22	CEBPD	chr12:56881716-56882028	HepG2	liver:	n/a	n/a
23	CEBPD	chr12:56882085-56882480	HepG2	liver:	n/a	n/a
24	CHD2	chr12:56882160-56882437	GM12878	blood:	n/a	chr12:56882404-56882414
25	CHD2	chr12:56882248-56882280	K562	blood:	n/a	n/a
26	CHD2	chr12:56882247-56882375	HepG2	liver:	n/a	n/a
27	CHD2	chr12:56881957-56882460	H1-hESC	embryonic stem cell:	n/a	chr12:56882404-56882414
28	CHD2	chr12:56881456-56881506	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr12:56882075-56882559	A549	lung:	n/a	n/a
30	CREB1	chr12:56881188-56881704	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr12:56881123-56881737	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:56882317-56882324	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr12:56881380-56881530	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr12:56881400-56881550	Caco-2	colon:	n/a	n/a
35	CTCF	chr12:56882188-56882315	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr12:56881740-56881890	HRE	kidney:	n/a	n/a
37	CTCF	chr12:56881280-56881430	GM12873	blood:	n/a	n/a
38	CTCF	chr12:56881320-56881470	GM12871	blood:	n/a	n/a
39	E2F4	chr12:56882169-56882491	MCF10A-Er-Src	breast:	n/a	chr12:56882401-56882413 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372
40	E2F6	chr12:56880936-56883052	H1-hESC	embryonic stem cell:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882762-56882771 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372 chr12:56882679-56882691
41	E2F6	chr12:56881344-56881460	K562	blood:	n/a	n/a
42	E2F6	chr12:56882165-56882526	K562	blood:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372
43	E2F6	chr12:56881977-56882862	A549	lung:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882762-56882771 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372 chr12:56882679-56882691
44	E2F6	chr12:56882098-56882718	A549	lung:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372 chr12:56882679-56882691
45	E2F6	chr12:56882247-56882434	K562	blood:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372
46	E2F6	chr12:56881156-56882874	H1-hESC	embryonic stem cell:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882762-56882771 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372 chr12:56882679-56882691
47	E2F6	chr12:56882207-56882432	K562	blood:	n/a	chr12:56882362-56882373 chr12:56882401-56882413 chr12:56882365-56882372 chr12:56882361-56882373 chr12:56882365-56882372 chr12:56882365-56882372
48	EGR1	chr12:56881254-56881487	K562	blood:	n/a	n/a
49	EGR1	chr12:56881134-56882613	ECC-1	luminal epithelium:	n/a	chr12:56881676-56881689 chr12:56881679-56881689 chr12:56882399-56882409 chr12:56882396-56882409
50	EGR1	chr12:56881685-56882446	GM12878	blood:	n/a	chr12:56882399-56882409 chr12:56882396-56882409

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56882479-56882529	HEEpiC	esophagus:	n/a
2	chr12:56882324-56882374	HCM	heart:	n/a
3	chr12:56882324-56882374	NB4	blood:	n/a
4	chr12:56881753-56881803	GM19239	blood:	n/a
5	chr12:56883202-56883252	GM12891	blood:	n/a
6	chr12:56882693-56882743	HCT-116	colon:	n/a
7	chr12:56882314-56882364	Hela-S3	cervix:	n/a
8	chr12:56882429-56882479	HCT-116	colon:	n/a
9	chr12:56882535-56882585	BE2_C	brain:	n/a
10	chr12:56882535-56882585	HMEC	breast:	n/a
11	chr12:56882326-56882376	HepG2	liver:	n/a
12	chr12:56882429-56882479	SKMC	muscle:	n/a
13	chr12:56882479-56882529	HepG2	liver:	n/a
14	chr12:56882693-56882743	Caco-2	colon:	n/a
15	chr12:56881753-56881803	Hela-S3	cervix:	n/a
16	chr12:56883202-56883252	HCPEpiC	choroid plexus:	n/a
17	chr12:56882535-56882585	SAEC	small airway:	n/a
18	chr12:56882326-56882376	HCF	heart:	n/a
19	chr12:56881865-56881915	CMK	blood:	n/a
20	chr12:56881865-56881915	AG09319	gingival:	n/a
21	chr12:56883202-56883252	Caco-2	colon:	n/a
22	chr12:56882429-56882479	HAEpiC	amniotic membrane:	n/a
23	chr12:56882326-56882376	PFSK-1	brain:	n/a
24	chr12:56882429-56882479	ovcar-3	ovarian:	n/a
25	chr12:56882326-56882376	NT2-D1	testis:	n/a
26	chr12:56882326-56882376	IMR90	lung:	fetal
27	chr12:56882324-56882374	NH-A	brain:	n/a
28	chr12:56882326-56882376	HCM	heart:	n/a
29	chr12:56881865-56881915	RPTEC	kidney:	n/a
30	chr12:56883202-56883252	HMEC	breast:	n/a
31	chr12:56883202-56883252	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:56882314-56882364	HCF	heart:	n/a
33	chr12:56882535-56882585	ECC-1	luminal epithelium:	n/a
34	chr12:56882535-56882585	BJ	skin:	n/a
35	chr12:56882535-56882585	HEK293	kidney:	embryo
36	chr12:56882429-56882479	IMR90	lung:	fetal
37	chr12:56882693-56882743	U87	brain:	n/a
38	chr12:56882314-56882364	ProgFib	skin:	n/a
39	chr12:56882314-56882364	PFSK-1	brain:	n/a
40	chr12:56882693-56882743	HepG2	liver:	n/a
41	chr12:56882535-56882585	U87	brain:	n/a
42	chr12:56882324-56882374	AG09319	gingival:	n/a
43	chr12:56881865-56881915	A549	lung:	n/a
44	chr12:56882429-56882479	BE2_C	brain:	n/a
45	chr12:56881753-56881803	NH-A	brain:	n/a
46	chr12:56883202-56883252	SK-N-SH_RA	brain:	n/a
47	chr12:56882535-56882585	AG10803	skin:	n/a
48	chr12:56881753-56881803	HIPEpiC	eye:	n/a
49	chr12:56882693-56882743	HRCEpiC	kidney:	n/a
50	chr12:56882479-56882529	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56726722..56729321-chr12:56880761..56882422,3	MCF-7	breast:
2	chr12:56869848..56871502-chr12:56883322..56885722,2	MCF-7	breast:
3	chr12:56862344..56864045-chr12:56880136..56881879,2	MCF-7	breast:
4	chr12:56614067..56616141-chr12:56881501..56883346,2	MCF-7	breast:
5	chr12:56841673..56844476-chr12:56882161..56884243,2	MCF-7	breast:
6	chr12:56862103..56863706-chr12:56883382..56884893,2	K562	blood:

Variant related genes	Relation type
GLS2	TF binding region
GLS2	CpG island
ENSG00000135423	chromatin interactions
ENSG00000176422	chromatin interactions
ENSG00000139579	chromatin interactions
ENSG00000111602	chromatin interactions
ENSG00000135473	chromatin interactions
ENSG00000135517	chromatin interactions
ENSG00000181852	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544347490	chr12:56881283-56881284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111767879	chr12:56881287-56881288	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2657877	chr12:56881352-56881353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148023449	chr12:56881389-56881390	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs377506820	chr12:56881408-56881409	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs545913247	chr12:56881464-56881465	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112058019	chr12:56881467-56881468	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs369657291	chr12:56881545-56881546	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs528506628	chr12:56881557-56881558	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs141736850	chr12:56881583-56881584	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs568492645	chr12:56881592-56881593	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs117867773	chr12:56881614-56881615	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs576409178	chr12:56881621-56881622	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs557493185	chr12:56881653-56881654	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs557598253	chr12:56881685-56881686	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs540118409	chr12:56881690-56881691	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs370694488	chr12:56881691-56881692	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs372878799	chr12:56881710-56881711	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs139711605	chr12:56881725-56881726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs2279536	chr12:56881774-56881775	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs577536175	chr12:56881779-56881780	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs35530001	chr12:56881791-56881792	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs76744088	chr12:56881806-56881807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs572868894	chr12:56881819-56881820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs371838397	chr12:56881826-56881827	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs540278750	chr12:56881843-56881844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs201388259	chr12:56881853-56881854	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs565094169	chr12:56881860-56881861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs573641266	chr12:56881876-56881877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs376795903	chr12:56881891-56881892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs543988522	chr12:56881928-56881929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs562680075	chr12:56881942-56881943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs527565344	chr12:56881996-56881997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs368606160	chr12:56882035-56882036	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188093438	chr12:56882056-56882057	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs544892162	chr12:56882125-56882126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs560060535	chr12:56882128-56882129	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs372285316	chr12:56882145-56882146	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs182011140	chr12:56882164-56882165	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs150535207	chr12:56882169-56882170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs561951425	chr12:56882206-56882207	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs529362436	chr12:56882248-56882249	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs550826372	chr12:56882299-56882300	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs569420369	chr12:56882387-56882388	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs372819819	chr12:56882459-56882460	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs540081845	chr12:56882479-56882480	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs139886942	chr12:56882523-56882524	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs2638334	chr12:56882528-56882529	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs12809968	chr12:56882539-56882540	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs12811321	chr12:56882540-56882541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
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
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56863400-56881400	Weak transcription	HSMMtube	muscle
2	chr12:56863800-56881600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:56865600-56881400	Weak transcription	Aorta	Aorta
4	chr12:56867600-56881800	Weak transcription	A549	lung
5	chr12:56869000-56881600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56879800-56882600	Flanking Active TSS	Liver	Liver
7	chr12:56880800-56881400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr12:56880800-56881400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr12:56880800-56881400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr12:56880800-56881400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr12:56880800-56881400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr12:56880800-56881400	Active TSS	Pancreas	Pancrea
13	chr12:56880800-56881400	Enhancers	Spleen	Spleen
14	chr12:56880800-56881400	Flanking Active TSS	HepG2	liver
15	chr12:56880800-56881600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:56880800-56881600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr12:56880800-56882600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:56880800-56882600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:56880800-56882800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:56880800-56882800	Active TSS	Brain Angular Gyrus	brain
21	chr12:56880800-56882800	Active TSS	Brain Substantia Nigra	brain
22	chr12:56881000-56881400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr12:56881000-56881400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:56881000-56881400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:56881000-56881400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:56881000-56881400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr12:56881000-56881400	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr12:56881000-56881400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr12:56881000-56881400	Bivalent Enhancer	Fetal Thymus	thymus
30	chr12:56881000-56881400	ZNF genes & repeats	HSMM	muscle
31	chr12:56881000-56882000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:56881000-56882200	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr12:56881000-56882600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:56881000-56882600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:56881000-56882600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr12:56881000-56882600	Flanking Active TSS	HMEC	breast
37	chr12:56881000-56882800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:56881200-56881400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:56881200-56881400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:56881200-56881400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:56881200-56881400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:56881200-56881400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr12:56881200-56881400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:56881200-56881400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:56881200-56881400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
46	chr12:56881200-56881400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr12:56881200-56881400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr12:56881200-56881400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr12:56881200-56881400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:56881200-56881400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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