Variant report

Variant	nsv523366
Chromosome Location	chr12:12665246-12679124
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	BATF	chr12:12665193-12665604	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:12668923-12669350	MCF-7	breast:	n/a	chr12:12669129-12669140
3	CEBPB	chr12:12674060-12674368	HepG2	liver:	n/a	chr12:12674334-12674351
4	CEBPB	chr12:12669034-12669281	A549	lung:	n/a	chr12:12669129-12669140
5	CEBPB	chr12:12669114-12669224	Hela-S3	cervix:	n/a	chr12:12669129-12669140
6	CEBPB	chr12:12669084-12669195	K562	blood:	n/a	chr12:12669129-12669140
7	CEBPB	chr12:12669008-12669298	HepG2	liver:	n/a	chr12:12669129-12669140
8	CTCF	chr12:12676375-12676409	Lung_OC	lung:	n/a	n/a
9	CTCF	chr12:12666520-12666670	SK-N-SH_RA	brain:	n/a	n/a
10	E2F4	chr12:12678787-12678814	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr12:12665328-12665435	GM12878	blood:	n/a	n/a
12	EP300	chr12:12663890-12665430	SK-N-SH	brain:	n/a	n/a
13	EP300	chr12:12664237-12665754	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr12:12666388-12666743	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr12:12665338-12665676	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr12:12661255-12667747	SK-N-SH	brain:	n/a	chr12:12661260-12661274 chr12:12662415-12662429 chr12:12667385-12667399 chr12:12661255-12661269 chr12:12661301-12661311
17	ESR1	chr12:12670655-12670908	T-47D	breast:	n/a	chr12:12670802-12670817
18	ESR1	chr12:12670729-12670903	T-47D	breast:	n/a	chr12:12670802-12670817
19	FOSL2	chr12:12663951-12665264	SK-N-SH	brain:	n/a	chr12:12664225-12664235 chr12:12664225-12664235 chr12:12664225-12664235
20	GATA2	chr12:12664297-12665713	SH-SY5Y	brain:	n/a	chr12:12664562-12664578
21	GATA3	chr12:12673107-12673221	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr12:12663757-12665942	SK-N-SH	brain:	n/a	chr12:12664562-12664578
23	GATA3	chr12:12676173-12676326	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr12:12675714-12676244	MCF-7	breast:	n/a	n/a
25	GATA3	chr12:12664429-12665718	SH-SY5Y	brain:	n/a	chr12:12664562-12664578
26	GATA3	chr12:12663811-12665886	SK-N-SH	brain:	n/a	chr12:12664562-12664578
27	JUN	chr12:12674034-12674216	HepG2	liver:	n/a	chr12:12674076-12674089
28	JUND	chr12:12663936-12665369	SK-N-SH	brain:	n/a	chr12:12664225-12664235 chr12:12664225-12664235 chr12:12664225-12664235
29	JUND	chr12:12673923-12674521	HepG2	liver:	n/a	chr12:12674276-12674288
30	JUND	chr12:12664025-12665733	SK-N-SH	brain:	n/a	chr12:12665665-12665675 chr12:12664225-12664235 chr12:12664225-12664235 chr12:12664225-12664235
31	MAFF	chr12:12666586-12666893	K562	blood:	n/a	chr12:12666735-12666753
32	MAFF	chr12:12666557-12666900	HepG2	liver:	n/a	chr12:12666735-12666753
33	MAFK	chr12:12666599-12666901	HepG2	liver:	n/a	chr12:12666732-12666749 chr12:12666741-12666752 chr12:12666736-12666752 chr12:12666741-12666752 chr12:12666736-12666751 chr12:12666740-12666751
34	MAFK	chr12:12666572-12666897	K562	blood:	n/a	chr12:12666732-12666749 chr12:12666741-12666752 chr12:12666736-12666752 chr12:12666741-12666752 chr12:12666736-12666751 chr12:12666740-12666751
35	MAFK	chr12:12666646-12666847	Hela-S3	cervix:	n/a	chr12:12666732-12666749 chr12:12666741-12666752 chr12:12666736-12666752 chr12:12666741-12666752 chr12:12666736-12666751 chr12:12666740-12666751
36	MAFK	chr12:12666564-12666920	IMR90	lung:	n/a	chr12:12666732-12666749 chr12:12666741-12666752 chr12:12666736-12666752 chr12:12666741-12666752 chr12:12666736-12666751 chr12:12666740-12666751
37	MAFK	chr12:12666557-12666921	HepG2	liver:	n/a	chr12:12666732-12666749 chr12:12666741-12666752 chr12:12666736-12666752 chr12:12666741-12666752 chr12:12666736-12666751 chr12:12666740-12666751
38	MXI1	chr12:12662618-12666979	SK-N-SH	brain:	n/a	n/a
39	MXI1	chr12:12665376-12665488	GM12878	blood:	n/a	n/a
40	NFIC	chr12:12663821-12665738	SK-N-SH	brain:	n/a	n/a
41	NR2F2	chr12:12675738-12676178	MCF-7	breast:	n/a	n/a
42	NR2F2	chr12:12675703-12676291	MCF-7	breast:	n/a	n/a
43	PBX3	chr12:12663983-12665255	SK-N-SH	brain:	n/a	chr12:12664841-12664852
44	PBX3	chr12:12663985-12665315	SK-N-SH	brain:	n/a	chr12:12664841-12664852
45	POLR2A	chr12:12675050-12675329	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:12677235-12677307	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:12674919-12674922	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:12673697-12673833	ProgFib	skin:	n/a	n/a
49	POLR2A	chr12:12676748-12676754	MCF-7	breast:	n/a	n/a
50	POLR2A	chr12:12678643-12678963	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12673150-12673200	NB4	blood:	n/a
2	chr12:12673025-12673075	HCF	heart:	n/a
3	chr12:12673025-12673075	U87	brain:	n/a
4	chr12:12673025-12673075	SK-N-MC	brain:	n/a
5	chr12:12673150-12673200	HRE	kidney:	n/a
6	chr12:12673025-12673075	A549	lung:	n/a
7	chr12:12673025-12673075	HNPCEpiC	eye:	n/a
8	chr12:12673150-12673200	Hela-S3	cervix:	n/a
9	chr12:12673025-12673075	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:12673025-12673075	NHDF-neo	bronchial:	n/a
11	chr12:12673025-12673075	GM06990	blood:	n/a
12	chr12:12673150-12673200	HCM	heart:	n/a
13	chr12:12673150-12673200	H1-hESC	embryonic stem cell:	embryo
14	chr12:12673025-12673075	HAEpiC	amniotic membrane:	n/a
15	chr12:12673150-12673200	NHBE	bronchial:	n/a
16	chr12:12673025-12673075	SK-N-SH	brain:	n/a
17	chr12:12673025-12673075	AG10803	skin:	n/a
18	chr12:12673025-12673075	RPTEC	kidney:	n/a
19	chr12:12673150-12673200	BJ	skin:	n/a
20	chr12:12673150-12673200	HepG2	liver:	n/a
21	chr12:12673150-12673200	AG04449	skin:	fetal
22	chr12:12673150-12673200	U87	brain:	n/a
23	chr12:12673025-12673075	NHBE	bronchial:	n/a
24	chr12:12673025-12673075	T-47D	breast:	n/a
25	chr12:12673025-12673075	HepG2	liver:	n/a
26	chr12:12673025-12673075	HRCEpiC	kidney:	n/a
27	chr12:12673150-12673200	HRCEpiC	kidney:	n/a
28	chr12:12673150-12673200	ovcar-3	ovarian:	n/a
29	chr12:12673150-12673200	CMK	blood:	n/a
30	chr12:12673150-12673200	GM12892	blood:	n/a
31	chr12:12673025-12673075	AG09309	skin:	n/a
32	chr12:12673150-12673200	AG04450	lung:	fetal
33	chr12:12673150-12673200	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:12673025-12673075	SK-N-SH_RA	brain:	n/a
35	chr12:12673150-12673200	NH-A	brain:	n/a
36	chr12:12673150-12673200	MCF10A-Er-Src	breast:	n/a
37	chr12:12673150-12673200	NT2-D1	testis:	n/a
38	chr12:12673025-12673075	Jurkat	blood:	n/a
39	chr12:12673025-12673075	HCM	heart:	n/a
40	chr12:12673150-12673200	ProgFib	skin:	n/a
41	chr12:12673025-12673075	HMEC	breast:	n/a
42	chr12:12673025-12673075	SAEC	small airway:	n/a
43	chr12:12673150-12673200	GM06990	blood:	n/a
44	chr12:12673025-12673075	ECC-1	luminal epithelium:	n/a
45	chr12:12673025-12673075	Caco-2	colon:	n/a
46	chr12:12673025-12673075	IMR90	lung:	fetal
47	chr12:12673025-12673075	PrEC	prostate:	n/a
48	chr12:12673150-12673200	Caco-2	colon:	n/a
49	chr12:12673150-12673200	HCT-116	colon:	n/a
50	chr12:12673025-12673075	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12676154..12677988-chr12:12685954..12688802,2	MCF-7	breast:
2	chr12:12669920..12672358-chr12:12713747..12715597,2	MCF-7	breast:
3	chr12:12663586..12666811-chr12:12669278..12673958,4	MCF-7	breast:
4	chr12:12677909..12679570-chr12:12685352..12687736,2	MCF-7	breast:
5	chr12:12672595..12674438-chr12:12675513..12677632,2	MCF-7	breast:
6	chr12:12672602..12674761-chr12:12714230..12715790,2	MCF-7	breast:
7	chr12:12664441..12668310-chr12:12713996..12715655,3	MCF-7	breast:
8	chr12:12672692..12674511-chr12:12674724..12676812,2	MCF-7	breast:
9	chr12:12673127..12675193-chr12:12712366..12713939,3	MCF-7	breast:
10	chr12:12672853..12675163-chr12:12712393..12714277,2	K562	blood:
11	chr12:12673839..12677511-chr12:12678935..12682743,3	MCF-7	breast:
12	chr12:12657662..12660778-chr12:12669355..12673750,5	MCF-7	breast:
13	chr12:12676963..12678914-chr12:12679102..12682035,2	MCF-7	breast:
14	chr12:12651288..12653412-chr12:12663902..12666446,2	MCF-7	breast:
15	chr12:12551031..12553032-chr12:12674320..12676066,2	MCF-7	breast:
16	chr12:12679007..12681498-chr12:12683733..12686607,2	K562	blood:
17	chr12:12676702..12679662-chr12:12711991..12714895,3	MCF-7	breast:
18	chr12:12675003..12677370-chr12:12678643..12681429,2	K562	blood:
19	chr12:12663311..12665385-chr12:12856305..12857896,2	MCF-7	breast:
20	chr12:12652832..12655883-chr12:12662875..12665481,3	MCF-7	breast:
21	chr12:12663586..12666811-chr12:12669278..12673958,4	MCF-7	breast:
22	chr12:12669443..12671401-chr12:12739772..12741382,2	MCF-7	breast:
23	chr12:12676963..12678914-chr12:12679102..12682035,2	MCF-7	breast:
24	chr12:12675003..12677370-chr12:12678643..12681429,2	K562	blood:
25	chr12:12670175..12672490-chr12:12673979..12676406,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR19-3	chr12:12674261-12674397	NONHSAT026985

Variant related genes	Relation type
DUSP16	TF binding region
DUSP16	CpG island
ENSG00000111266	chromatin interactions

Extended variants
information (count: 529 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10845568	chr12:12665246-12665247	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145059942	chr12:12665255-12665256	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181959455	chr12:12665268-12665269	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552480839	chr12:12665304-12665305	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570782932	chr12:12665307-12665308	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4354775	chr12:12665314-12665315	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552160595	chr12:12665317-12665318	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529747563	chr12:12665318-12665319	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556678515	chr12:12665331-12665332	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568863666	chr12:12665374-12665375	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185779339	chr12:12665439-12665440	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs959292	chr12:12665443-12665444	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554357262	chr12:12665447-12665448	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373418298	chr12:12665461-12665462	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554880165	chr12:12665578-12665579	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568624730	chr12:12665587-12665588	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540210404	chr12:12665625-12665626	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558910375	chr12:12665647-12665648	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577171991	chr12:12665653-12665654	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544081790	chr12:12665680-12665681	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs151251636	chr12:12665685-12665686	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558971510	chr12:12665703-12665704	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140482718	chr12:12665715-12665716	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569786561	chr12:12665775-12665776	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369091521	chr12:12665865-12665866	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534255924	chr12:12665882-12665883	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554043255	chr12:12665900-12665901	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532071551	chr12:12665908-12665909	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150016639	chr12:12665962-12665963	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527703895	chr12:12665976-12665977	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577209455	chr12:12665979-12665980	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77931688	chr12:12665980-12665981	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576868097	chr12:12666018-12666019	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11054945	chr12:12666130-12666131	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191074142	chr12:12666138-12666139	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11054946	chr12:12666142-12666143	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550204286	chr12:12666186-12666187	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73063430	chr12:12666209-12666210	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114776322	chr12:12666221-12666222	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182739244	chr12:12666246-12666247	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566542717	chr12:12666315-12666316	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533782476	chr12:12666316-12666317	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534382960	chr12:12666336-12666337	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145556584	chr12:12666440-12666441	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188256009	chr12:12666457-12666458	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76997454	chr12:12666521-12666522	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115138919	chr12:12666544-12666545	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77696186	chr12:12666571-12666572	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574571423	chr12:12666616-12666617	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs199813486	chr12:12666651-12666652	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	17690704	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Prostate cancer	16573809	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:12654400-12667200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:12656000-12666400	Weak transcription	Spleen	Spleen
8	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:12659000-12667000	Weak transcription	Fetal Thymus	thymus
10	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:12659600-12665800	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:12659800-12665600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:12659800-12667800	Enhancers	Brain Hippocampus Middle	brain
14	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:12660000-12668600	Enhancers	Brain Substantia Nigra	brain
20	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
22	chr12:12660200-12670000	Weak transcription	Fetal Lung	lung
23	chr12:12660400-12665600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:12660400-12666000	Weak transcription	Placenta	Placenta
25	chr12:12660400-12666400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:12660400-12666400	Weak transcription	Aorta	Aorta
27	chr12:12660400-12667000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:12660400-12669600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:12660400-12670000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:12660400-12670000	Weak transcription	HUVEC	blood vessel
31	chr12:12660400-12670600	Weak transcription	Fetal Stomach	stomach
32	chr12:12660400-12672200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:12660400-12672400	Weak transcription	Right Ventricle	heart
34	chr12:12660400-12672600	Weak transcription	Esophagus	oesophagus
35	chr12:12660400-12672800	Weak transcription	K562	blood
36	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:12660600-12667200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:12660800-12665800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:12660800-12667200	Weak transcription	Right Atrium	heart
40	chr12:12660800-12670800	Weak transcription	Left Ventricle	heart
41	chr12:12660800-12672400	Weak transcription	Ovary	ovary
42	chr12:12660800-12676600	Weak transcription	Pancreas	Pancrea
43	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:12661200-12665800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:12661800-12669200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:12662000-12665800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:12662000-12668200	Strong transcription	HepG2	liver
48	chr12:12662000-12668600	Enhancers	Brain Anterior Caudate	brain
49	chr12:12662200-12669000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:12662200-12669800	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links