Variant report

Variant	esv10159
Chromosome Location	chr12:56524824-56527928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:56526050-56526105	HepG2	liver:	n/a	n/a
2	CTCF	chr12:56525760-56525910	Caco-2	colon:	n/a	n/a
3	EBF1	chr12:56526357-56526509	GM12878	blood:	n/a	chr12:56526416-56526427
4	POLR2A	chr12:56527863-56528146	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:56526919-56528129	K562	blood:	n/a	n/a
6	POLR2A	chr12:56525808-56526556	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:56526217-56526222	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:56527109-56527276	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:56526229-56526253	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:56525778-56526109	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:56527795-56528147	K562	blood:	n/a	n/a
12	POLR2A	chr12:56527052-56528147	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:56526890-56527409	K562	blood:	n/a	n/a
14	POLR2A	chr12:56526242-56526498	K562	blood:	n/a	n/a
15	POLR2A	chr12:56525959-56525991	K562	blood:	n/a	n/a
16	POLR2A	chr12:56523790-56524870	K562	blood:	n/a	n/a
17	POLR2A	chr12:56526885-56528260	K562	blood:	n/a	n/a
18	POLR2A	chr12:56526203-56526301	K562	blood:	n/a	n/a
19	POLR2A	chr12:56527031-56528264	K562	blood:	n/a	n/a
20	POLR2A	chr12:56527499-56528315	K562	blood:	n/a	n/a
21	POLR2A	chr12:56525914-56526626	K562	blood:	n/a	n/a
22	POLR2A	chr12:56526962-56528184	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:56527477-56528102	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:56524540-56524839	K562	blood:	n/a	n/a
25	POLR2A	chr12:56523930-56524882	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:56526337-56526651	K562	blood:	n/a	n/a
27	POLR2A	chr12:56524975-56525000	K562	blood:	n/a	n/a
28	POLR2A	chr12:56524767-56524969	K562	blood:	n/a	n/a
29	POLR2A	chr12:56524655-56525553	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:56526424-56526622	K562	blood:	n/a	n/a
31	POLR2A	chr12:56527013-56527035	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:56525186-56525708	K562	blood:	n/a	n/a
33	POLR2A	chr12:56526004-56526101	K562	blood:	n/a	n/a
34	POLR2A	chr12:56525251-56526042	K562	blood:	n/a	n/a
35	POLR2A	chr12:56527089-56527130	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr12:56525902-56526683	K562	blood:	n/a	n/a
37	POLR2A	chr12:56527222-56527379	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:56526565-56526841	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:56525929-56526129	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:56527036-56528340	K562	blood:	n/a	n/a
41	POLR2A	chr12:56525794-56526332	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:56524884-56524968	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:56527609-56527750	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:56526152-56526401	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:56527846-56527956	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr12:56526302-56526722	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56525349-56525399	PFSK-1	brain:	n/a
2	chr12:56525349-56525399	AG09309	skin:	n/a
3	chr12:56525349-56525399	HIPEpiC	eye:	n/a
4	chr12:56525349-56525399	SAEC	small airway:	n/a
5	chr12:56525349-56525399	RPTEC	kidney:	n/a
6	chr12:56525349-56525399	BJ	skin:	n/a
7	chr12:56525349-56525399	BE2_C	brain:	n/a
8	chr12:56525349-56525399	NT2-D1	testis:	n/a
9	chr12:56525349-56525399	SK-N-SH_RA	brain:	n/a
10	chr12:56525349-56525399	AoSMC	blood vessel:	n/a
11	chr12:56525349-56525399	GM12878	blood:	n/a
12	chr12:56525349-56525399	Caco-2	colon:	n/a
13	chr12:56525349-56525399	HRPEpiC	eye:	n/a
14	chr12:56525349-56525399	HRCEpiC	kidney:	n/a
15	chr12:56525349-56525399	A549	lung:	n/a
16	chr12:56525349-56525399	HEK293	kidney:	embryo
17	chr12:56525349-56525399	HCPEpiC	choroid plexus:	n/a
18	chr12:56525349-56525399	AG09319	gingival:	n/a
19	chr12:56525349-56525399	HCT-116	colon:	n/a
20	chr12:56525349-56525399	ECC-1	luminal epithelium:	n/a
21	chr12:56525349-56525399	IMR90	lung:	fetal
22	chr12:56525349-56525399	GM19239	blood:	n/a
23	chr12:56525349-56525399	Hela-S3	cervix:	n/a
24	chr12:56525349-56525399	LNCaP	prostate:	n/a
25	chr12:56525349-56525399	PrEC	prostate:	n/a
26	chr12:56525349-56525399	HAEpiC	amniotic membrane:	n/a
27	chr12:56525349-56525399	U87	brain:	n/a
28	chr12:56525349-56525399	MCF-7	breast:	n/a
29	chr12:56525349-56525399	HepG2	liver:	n/a
30	chr12:56525349-56525399	PANC-1	pancreas:	n/a
31	chr12:56525349-56525399	AG04450	lung:	fetal
32	chr12:56525349-56525399	Hepatocyte	liver:	n/a
33	chr12:56525349-56525399	AG04449	skin:	fetal
34	chr12:56525349-56525399	T-47D	breast:	n/a
35	chr12:56525349-56525399	MCF10A-Er-Src	breast:	n/a
36	chr12:56525349-56525399	H1-hESC	embryonic stem cell:	embryo
37	chr12:56525349-56525399	HCM	heart:	n/a
38	chr12:56525349-56525399	HUVEC	blood vessel:	n/a
39	chr12:56525349-56525399	ProgFib	skin:	n/a
40	chr12:56525349-56525399	K562	blood:	n/a
41	chr12:56525349-56525399	GM06990	blood:	n/a
42	chr12:56525349-56525399	HMEC	breast:	n/a
43	chr12:56525349-56525399	NHBE	bronchial:	n/a
44	chr12:56525349-56525399	SK-N-MC	brain:	n/a
45	chr12:56525349-56525399	SKMC	muscle:	n/a
46	chr12:56525349-56525399	Jurkat	blood:	n/a
47	chr12:56525349-56525399	NH-A	brain:	n/a
48	chr12:56525349-56525399	HEEpiC	esophagus:	n/a
49	chr12:56525349-56525399	GM12892	blood:	n/a
50	chr12:56525349-56525399	NHDF-neo	bronchial:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56526232..56528705-chr12:56554027..56556054,3	MCF-7	breast:
2	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
3	chr12:56524733..56527409-chr12:56558482..56560316,2	MCF-7	breast:
4	chr12:56526078..56528976-chr12:56529698..56531999,2	MCF-7	breast:
5	chr12:56507991..56525761-chr12:56579808..56586137,68	MCF-7	breast:
6	chr12:56518236..56525779-chr12:56581707..56584752,14	MCF-7	breast:
7	chr12:56516279..56526040-chr12:56550254..56554953,37	MCF-7	breast:
8	chr12:56526190..56529140-chr12:56532502..56534555,3	MCF-7	breast:
9	chr12:56518356..56534331-chr12:56534720..56548698,49	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258317	TF binding region
ESYT1	TF binding region
ENSG00000258317	CpG island
ESYT1	CpG island
ENSG00000139613	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000196465	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000258199	chromatin interactions
ENSG00000139641	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576236959	chr12:56524831-56524832	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs545813777	chr12:56524833-56524834	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs375454030	chr12:56524848-56524849	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs143166654	chr12:56524874-56524875	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs7488465	chr12:56524902-56524903	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs564099067	chr12:56524929-56524930	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs79732983	chr12:56524940-56524941	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs546696487	chr12:56524955-56524956	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs368975133	chr12:56524974-56524975	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs368493821	chr12:56525020-56525021	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs147592356	chr12:56525024-56525025	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs138764704	chr12:56525033-56525034	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs560581410	chr12:56525046-56525047	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs372138826	chr12:56525071-56525072	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs376449780	chr12:56525123-56525124	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs35250374	chr12:56525160-56525161	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs529095244	chr12:56525168-56525169	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs539498032	chr12:56525212-56525213	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs201189181	chr12:56525215-56525216	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs200828385	chr12:56525219-56525220	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs73125289	chr12:56525230-56525231	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529521209	chr12:56525269-56525270	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs141902607	chr12:56525270-56525271	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs140431274	chr12:56525298-56525299	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs142834947	chr12:56525315-56525316	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs150646136	chr12:56525330-56525331	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs539374623	chr12:56525336-56525337	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs139843541	chr12:56525343-56525344	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs570524793	chr12:56525350-56525351	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs372728553	chr12:56525397-56525398	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs78723576	chr12:56525442-56525443	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs553437628	chr12:56525482-56525483	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs376641058	chr12:56525484-56525485	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs201030269	chr12:56525502-56525503	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs368717672	chr12:56525506-56525507	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs75676210	chr12:56525589-56525590	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs200049062	chr12:56525628-56525629	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs557636282	chr12:56525629-56525630	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs575986525	chr12:56525652-56525653	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs546554401	chr12:56525689-56525690	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs564037497	chr12:56525713-56525714	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs572800153	chr12:56525778-56525779	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs572520927	chr12:56525779-56525780	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs35962273	chr12:56525796-56525797	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs539907273	chr12:56525815-56525816	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs561812108	chr12:56525905-56525906	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs187275073	chr12:56525927-56525928	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs369432471	chr12:56525944-56525945	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs80107827	chr12:56525953-56525954	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs112025164	chr12:56525967-56525968	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	16616336	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	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	17982442	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56522000-56525000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:56523200-56533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56523600-56525200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:56523600-56526200	Weak transcription	Psoas Muscle	Psoas
5	chr12:56523600-56527000	Weak transcription	Small Intestine	intestine
6	chr12:56523600-56537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:56523800-56525800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:56523800-56527400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:56523800-56537000	Weak transcription	Right Atrium	heart
10	chr12:56523800-56539400	Strong transcription	NHEK	skin
11	chr12:56524000-56525000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:56524000-56525000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:56524000-56525200	Genic enhancers	Fetal Thymus	thymus
14	chr12:56524000-56525400	Genic enhancers	Placenta	Placenta
15	chr12:56524000-56525800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:56524000-56526600	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr12:56524000-56528800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:56524000-56537000	Strong transcription	Fetal Intestine Small	intestine
19	chr12:56524200-56525000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:56524200-56525000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:56524200-56525000	Genic enhancers	Fetal Lung	lung
22	chr12:56524200-56525200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:56524200-56525200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:56524200-56525800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:56524200-56525800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:56524200-56526400	Genic enhancers	Primary B cells from cord blood	blood
27	chr12:56524200-56526400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:56524200-56528000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:56524200-56528200	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr12:56524200-56528200	Strong transcription	Brain Anterior Caudate	brain
31	chr12:56524200-56528200	Strong transcription	Left Ventricle	heart
32	chr12:56524200-56528400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:56524200-56528400	Strong transcription	HUVEC	blood vessel
34	chr12:56524200-56529200	Strong transcription	Brain Hippocampus Middle	brain
35	chr12:56524200-56539200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:56524200-56539200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:56524200-56539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:56524200-56539400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:56524200-56539400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:56524200-56539400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:56524200-56539400	Strong transcription	NH-A	brain
42	chr12:56524400-56525000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:56524400-56525000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:56524400-56525200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
45	chr12:56524400-56525400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:56524400-56525400	ZNF genes & repeats	Dnd41	blood
47	chr12:56524400-56526600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:56524400-56527800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:56524400-56528000	Strong transcription	A549	lung
50	chr12:56524400-56528200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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