Variant report

Variant	esv3323244
Chromosome Location	chr12:120805194-120807742
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	chr12:120807452-120807797	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr12:120805721-120805897	K562	blood:	n/a	n/a
3	CEBPB	chr12:120805686-120806014	IMR90	lung:	n/a	n/a
4	CEBPB	chr12:120805698-120805911	K562	blood:	n/a	n/a
5	CEBPB	chr12:120805688-120805946	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr12:120806240-120806355	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr12:120807426-120807626	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:120805033-120805211	GM19239	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
9	CTCF	chr12:120805009-120805240	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
10	CTCF	chr12:120805080-120805230	AG04450	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
11	CTCF	chr12:120805060-120805210	HA-sp	spinal cord:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
12	CTCF	chr12:120805060-120805210	HMF	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
13	CTCF	chr12:120805106-120805199	LNCaP	prostate:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
14	CTCF	chr12:120805075-120805214	Kidney_OC	kidney:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
15	CTCF	chr12:120805120-120805270	HCT-116	colon:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
16	CTCF	chr12:120805020-120805247	MCF-7	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
17	CTCF	chr12:120805080-120805230	GM12872	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
18	CTCF	chr12:120805060-120805210	HVMF	connective:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
19	CTCF	chr12:120805060-120805210	NB4	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
20	CTCF	chr12:120805240-120805390	GM12870	blood:	n/a	n/a
21	CTCF	chr12:120805060-120805210	GM12873	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
22	CTCF	chr12:120805120-120805270	HUVEC	blood vessel:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
23	CTCF	chr12:120804835-120805257	K562	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
24	CTCF	chr12:120805053-120805234	Hela-S3	cervix:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
25	CTCF	chr12:120805080-120805230	WI-38	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
26	CTCF	chr12:120804972-120805300	K562	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
27	CTCF	chr12:120805080-120805230	AG09319	gingival:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
28	CTCF	chr12:120805010-120805242	GM12892	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
29	CTCF	chr12:120805136-120805205	Lung_OC	lung:	n/a	n/a
30	CTCF	chr12:120805057-120805208	SK-N-SH_RA	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
31	CTCF	chr12:120805100-120805250	Caco-2	colon:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
32	CTCF	chr12:120805060-120805210	GM12865	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
33	CTCF	chr12:120805010-120805229	MCF-7	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
34	CTCF	chr12:120805080-120805230	NHLF	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
35	CTCF	chr12:120805039-120805235	HepG2	liver:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
36	CTCF	chr12:120805042-120805219	GM13977	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
37	CTCF	chr12:120805100-120805250	SAEC	small airway:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
38	CTCF	chr12:120805300-120805450	GM12872	blood:	n/a	n/a
39	CTCF	chr12:120805080-120805230	WERI-Rb-1	eye:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
40	CTCF	chr12:120805100-120805250	BJ	skin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
41	CTCF	chr12:120805080-120805230	SK-N-SH_RA	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
42	CTCF	chr12:120804419-120805489	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
43	CTCF	chr12:120805080-120805230	HCM	heart:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
44	CTCF	chr12:120805060-120805210	RPTEC	kidney:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
45	CTCF	chr12:120805041-120805231	MCF-7	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
46	CTCF	chr12:120805005-120805238	Gliobla	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
47	CTCF	chr12:120805060-120805210	MCF-7	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
48	CTCF	chr12:120805240-120805390	GM12866	blood:	n/a	n/a
49	CTCF	chr12:120805060-120805210	Hela-S3	cervix:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
50	CTCF	chr12:120804939-120805251	MCF-7	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120807309-120807359	IMR90	lung:	fetal
2	chr12:120806178-120806228	NH-A	brain:	n/a
3	chr12:120807309-120807359	IMR90	lung:	fetal
4	chr12:120806178-120806228	NH-A	brain:	n/a
5	chr12:120807618-120807668	SKMC	muscle:	n/a
6	chr12:120807316-120807366	HCF	heart:	n/a
7	chr12:120806178-120806228	T-47D	breast:	n/a
8	chr12:120807285-120807335	HIPEpiC	eye:	n/a
9	chr12:120807309-120807359	CMK	blood:	n/a
10	chr12:120806383-120806433	HCT-116	colon:	n/a
11	chr12:120807618-120807668	Caco-2	colon:	n/a
12	chr12:120806178-120806228	AG10803	skin:	n/a
13	chr12:120806880-120806930	NHDF-neo	bronchial:	n/a
14	chr12:120806383-120806433	MCF-7	breast:	n/a
15	chr12:120807285-120807335	GM12891	blood:	n/a
16	chr12:120806880-120806930	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:120807285-120807335	HRPEpiC	eye:	n/a
18	chr12:120806880-120806930	A549	lung:	n/a
19	chr12:120806383-120806433	AG04449	skin:	fetal
20	chr12:120806880-120806930	HEEpiC	esophagus:	n/a
21	chr12:120807316-120807366	SK-N-SH	brain:	n/a
22	chr12:120807316-120807366	Jurkat	blood:	n/a
23	chr12:120806617-120806667	NH-A	brain:	n/a
24	chr12:120807618-120807668	Hela-S3	cervix:	n/a
25	chr12:120807316-120807366	HCPEpiC	choroid plexus:	n/a
26	chr12:120807309-120807359	GM12892	blood:	n/a
27	chr12:120807309-120807359	HRCEpiC	kidney:	n/a
28	chr12:120806617-120806667	GM12878	blood:	n/a
29	chr12:120807618-120807668	AoSMC	blood vessel:	n/a
30	chr12:120806178-120806228	NHBE	bronchial:	n/a
31	chr12:120806880-120806930	BE2_C	brain:	n/a
32	chr12:120806617-120806667	BJ	skin:	n/a
33	chr12:120807316-120807366	PFSK-1	brain:	n/a
34	chr12:120807316-120807366	HNPCEpiC	eye:	n/a
35	chr12:120807316-120807366	GM12892	blood:	n/a
36	chr12:120806383-120806433	HRPEpiC	eye:	n/a
37	chr12:120807285-120807335	AG04449	skin:	fetal
38	chr12:120806880-120806930	AG10803	skin:	n/a
39	chr12:120806880-120806930	SKMC	muscle:	n/a
40	chr12:120807316-120807366	AG10803	skin:	n/a
41	chr12:120807285-120807335	PANC-1	pancreas:	n/a
42	chr12:120806617-120806667	NHDF-neo	bronchial:	n/a
43	chr12:120806617-120806667	HepG2	liver:	n/a
44	chr12:120806617-120806667	HAEpiC	amniotic membrane:	n/a
45	chr12:120806617-120806667	U87	brain:	n/a
46	chr12:120807309-120807359	BJ	skin:	n/a
47	chr12:120807316-120807366	ECC-1	luminal epithelium:	n/a
48	chr12:120807618-120807668	AG04450	lung:	fetal
49	chr12:120807309-120807359	T-47D	breast:	n/a
50	chr12:120806880-120806930	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120794069..120794978-chr12:120804760..120805597,2	MCF-7	breast:
2	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
3	chr12:120804639..120805497-chr12:120877167..120877760,2	MCF-7	breast:
4	chr12:120803522..120805721-chr12:120933234..120935368,2	MCF-7	breast:
5	chr12:120795985..120796800-chr12:120804726..120805531,3	MCF-7	breast:
6	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
7	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167

Variant related genes	Relation type
MSI1	TF binding region
RPS27P25	TF binding region
MSI1	CpG island
RPS27P25	CpG island
ENSG00000248008	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000200795	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75404276	chr12:120805204-120805205	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs372722701	chr12:120805217-120805218	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs567099057	chr12:120805357-120805358	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs144164670	chr12:120805415-120805416	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs73416955	chr12:120805440-120805441	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534053642	chr12:120805454-120805455	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs547396770	chr12:120805520-120805521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs567419745	chr12:120805619-120805620	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs536435820	chr12:120805620-120805621	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs556420354	chr12:120805637-120805638	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs183735318	chr12:120805647-120805648	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs538776008	chr12:120805692-120805693	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs558545939	chr12:120805724-120805725	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs146513139	chr12:120805749-120805750	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs371488847	chr12:120805762-120805763	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs560639467	chr12:120805785-120805786	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs77432606	chr12:120805862-120805863	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs542793076	chr12:120805872-120805873	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs371870230	chr12:120805901-120805902	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs374132082	chr12:120805924-120805925	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs376421673	chr12:120806036-120806037	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs562790245	chr12:120806128-120806129	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs111293994	chr12:120806129-120806130	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs531682921	chr12:120806130-120806131	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs551471456	chr12:120806171-120806172	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs369649523	chr12:120806259-120806260	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs111648724	chr12:120806304-120806305	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs527699317	chr12:120806391-120806392	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs112030390	chr12:120806527-120806528	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs141027548	chr12:120806548-120806549	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs567425717	chr12:120806579-120806580	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs536593530	chr12:120806676-120806677	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs57898698	chr12:120806700-120806701	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs11065094	chr12:120806706-120806707	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569872978	chr12:120806708-120806709	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs377630517	chr12:120806750-120806751	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs558393507	chr12:120806921-120806922	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs547256348	chr12:120806923-120806924	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs571974605	chr12:120807130-120807131	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs112668937	chr12:120807146-120807147	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs549759042	chr12:120807150-120807151	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs1179451	chr12:120807172-120807173	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115198471	chr12:120807416-120807417	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs573991581	chr12:120807460-120807461	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs115754476	chr12:120807594-120807595	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs569024897	chr12:120807652-120807653	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs576233606	chr12:120807659-120807660	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
2	chr12:120800200-120805400	Weak transcription	Ovary	ovary
3	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
4	chr12:120802200-120805200	Enhancers	Stomach Mucosa	stomach
5	chr12:120802400-120805800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr12:120803000-120805600	Enhancers	Pancreas	Pancrea
7	chr12:120803200-120805600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:120803400-120805200	Enhancers	Brain Anterior Caudate	brain
9	chr12:120803400-120805400	Genic enhancers	Fetal Stomach	stomach
10	chr12:120803400-120806000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:120803600-120805400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr12:120803600-120805400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr12:120803600-120805600	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:120803600-120806000	Enhancers	Fetal Brain Male	brain
15	chr12:120803600-120806200	Weak transcription	Lung	lung
16	chr12:120804000-120805200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:120804000-120805200	Weak transcription	Fetal Kidney	kidney
18	chr12:120804000-120805800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:120804000-120805800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr12:120804000-120806000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:120804000-120806000	Enhancers	A549	lung
22	chr12:120804200-120805200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:120804200-120805200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr12:120804200-120805400	Enhancers	Left Ventricle	heart
25	chr12:120804400-120805600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:120804400-120805800	Flanking Active TSS	Fetal Brain Female	brain
27	chr12:120804400-120805800	Enhancers	Fetal Heart	heart
28	chr12:120804400-120805800	Enhancers	Gastric	stomach
29	chr12:120804400-120806000	Enhancers	Brain Substantia Nigra	brain
30	chr12:120804400-120806200	Weak transcription	Liver	Liver
31	chr12:120804600-120805200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr12:120804600-120805200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr12:120804600-120805600	Enhancers	Right Ventricle	heart
34	chr12:120804600-120805800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:120804800-120805200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:120804800-120805200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:120804800-120805200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:120804800-120805200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:120804800-120805200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:120804800-120805200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr12:120804800-120805400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:120804800-120805400	Bivalent Enhancer	NH-A	brain
43	chr12:120804800-120805600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:120804800-120805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr12:120804800-120805600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr12:120804800-120805800	Bivalent Enhancer	HepG2	liver
47	chr12:120804800-120806000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr12:120804800-120807800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:120804800-120807800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:120805000-120805200	Bivalent Enhancer	Fetal Intestine Large	intestine

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