Variant report

Variant	esv3504704
Chromosome Location	chr12:2029891-2032239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:366)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:2031760-2031813	K562	blood:	n/a	n/a
2	CTCF	chr12:2031236-2031415	GM13976	blood:	n/a	n/a
3	CTCF	chr12:2031180-2031330	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr12:2031257-2031393	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:2031200-2031350	GM12868	blood:	n/a	n/a
6	CTCF	chr12:2031265-2031393	Fibrobl	skin:	n/a	n/a
7	CTCF	chr12:2031222-2031411	GM19238	blood:	n/a	n/a
8	CTCF	chr12:2030220-2030370	GM12874	blood:	n/a	chr12:2030323-2030336
9	CTCF	chr12:2031240-2031390	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr12:2031264-2031372	IMR90	lung:	n/a	n/a
11	CTCF	chr12:2031800-2031950	GM12873	blood:	n/a	chr12:2031831-2031849 chr12:2031832-2031848
12	CTCF	chr12:2031737-2031916	GM19239	blood:	n/a	chr12:2031831-2031849 chr12:2031832-2031848
13	CTCF	chr12:2031280-2031430	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr12:2031595-2031731	GM19239	blood:	n/a	n/a
15	CTCF	chr12:2031239-2031413	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:2031213-2031459	GM19239	blood:	n/a	n/a
17	CTCF	chr12:2030293-2030375	GM12891	blood:	n/a	chr12:2030323-2030336
18	CTCF	chr12:2030203-2030423	GM19239	blood:	n/a	chr12:2030323-2030336
19	CTCF	chr12:2031240-2031390	NB4	blood:	n/a	n/a
20	CTCF	chr12:2031200-2031350	GM12867	blood:	n/a	n/a
21	CTCF	chr12:2031819-2031824	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:2031280-2031430	GM12873	blood:	n/a	n/a
23	CTCF	chr12:2031700-2031850	HepG2	liver:	n/a	chr12:2031831-2031849 chr12:2031832-2031848
24	CTCF	chr12:2031754-2031883	HepG2	liver:	n/a	chr12:2031831-2031849 chr12:2031832-2031848
25	CTCF	chr12:2030220-2030370	GM12873	blood:	n/a	chr12:2030323-2030336
26	CTCF	chr12:2030270-2030390	Spleen_OC	spleen:	n/a	chr12:2030323-2030336
27	CTCF	chr12:2030176-2030363	K562	blood:	n/a	chr12:2030323-2030336
28	CTCF	chr12:2031280-2031430	HCFaa	heart:	n/a	n/a
29	CTCF	chr12:2030289-2030380	GM19238	blood:	n/a	chr12:2030323-2030336
30	CTCF	chr12:2030300-2030450	GM12867	blood:	n/a	chr12:2030323-2030336
31	CTCF	chr12:2031240-2031390	GM12873	blood:	n/a	n/a
32	CTCF	chr12:2031301-2031343	GM10266	blood:	n/a	n/a
33	CTCF	chr12:2030240-2030390	NB4	blood:	n/a	chr12:2030323-2030336
34	CTCF	chr12:2031220-2031370	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr12:2031240-2031390	HRE	kidney:	n/a	n/a
36	CTCF	chr12:2030140-2030290	HL-60	blood:	n/a	n/a
37	CTCF	chr12:2031240-2031390	GM12866	blood:	n/a	n/a
38	CTCF	chr12:2031680-2031830	HRE	kidney:	n/a	n/a
39	CTCFL	chr12:2031721-2031854	K562	blood:	n/a	n/a
40	HMGN3	chr12:2031274-2031451	K562	blood:	n/a	n/a
41	MAX	chr12:2030120-2030514	NB4	blood:	n/a	n/a
42	MYC	chr12:2030121-2030491	NB4	blood:	n/a	n/a
43	POLR2A	chr12:2030053-2030580	HL-60	blood:	n/a	n/a
44	POLR2A	chr12:2030320-2030326	MCF-7	breast:	n/a	n/a
45	POLR2A	chr12:2030273-2030289	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:2031105-2031912	GM15510	blood:	n/a	n/a
47	POLR2A	chr12:2030332-2030352	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:2030208-2030267	MCF-7	breast:	n/a	n/a
49	RAD21	chr12:2031176-2031523	H1-hESC	embryonic stem cell:	n/a	n/a
50	RELA	chr12:2032192-2032623	GM19099	blood:	n/a	chr12:2032396-2032405 chr12:2032396-2032405

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:2031546-2031596	HNPCEpiC	eye:	n/a
2	chr12:2030223-2030273	Hepatocyte	liver:	n/a
3	chr12:2030200-2030250	Hepatocyte	liver:	n/a
4	chr12:2031922-2031972	Caco-2	colon:	n/a
5	chr12:2031417-2031467	Hela-S3	cervix:	n/a
6	chr12:2030223-2030273	HL-60	blood:	n/a
7	chr12:2030178-2030228	Caco-2	colon:	n/a
8	chr12:2030223-2030273	HRPEpiC	eye:	n/a
9	chr12:2031922-2031972	HUVEC	blood vessel:	n/a
10	chr12:2030200-2030250	AG04450	lung:	fetal
11	chr12:2031922-2031972	HEK293	kidney:	embryo
12	chr12:2031922-2031972	K562	blood:	n/a
13	chr12:2030223-2030273	K562	blood:	n/a
14	chr12:2031417-2031467	AoSMC	blood vessel:	n/a
15	chr12:2030200-2030250	GM12891	blood:	n/a
16	chr12:2031922-2031972	HAEpiC	amniotic membrane:	n/a
17	chr12:2030200-2030250	HEEpiC	esophagus:	n/a
18	chr12:2030178-2030228	ovcar-3	ovarian:	n/a
19	chr12:2031922-2031972	ovcar-3	ovarian:	n/a
20	chr12:2031417-2031467	A549	lung:	n/a
21	chr12:2031546-2031596	NB4	blood:	n/a
22	chr12:2030200-2030250	SK-N-MC	brain:	n/a
23	chr12:2031546-2031596	AG10803	skin:	n/a
24	chr12:2030178-2030228	AG09319	gingival:	n/a
25	chr12:2030223-2030273	HEEpiC	esophagus:	n/a
26	chr12:2030200-2030250	NH-A	brain:	n/a
27	chr12:2031417-2031467	HL-60	blood:	n/a
28	chr12:2031546-2031596	HRE	kidney:	n/a
29	chr12:2030223-2030273	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:2031417-2031467	CMK	blood:	n/a
31	chr12:2031922-2031972	HCPEpiC	choroid plexus:	n/a
32	chr12:2031546-2031596	IMR90	lung:	fetal
33	chr12:2031546-2031596	AoSMC	blood vessel:	n/a
34	chr12:2031922-2031972	GM12878	blood:	n/a
35	chr12:2031546-2031596	Jurkat	blood:	n/a
36	chr12:2030200-2030250	HRCEpiC	kidney:	n/a
37	chr12:2030223-2030273	MCF-7	breast:	n/a
38	chr12:2030223-2030273	HRCEpiC	kidney:	n/a
39	chr12:2030200-2030250	HCPEpiC	choroid plexus:	n/a
40	chr12:2030178-2030228	H1-hESC	embryonic stem cell:	embryo
41	chr12:2031546-2031596	HRCEpiC	kidney:	n/a
42	chr12:2031417-2031467	BE2_C	brain:	n/a
43	chr12:2030178-2030228	ProgFib	skin:	n/a
44	chr12:2031546-2031596	LNCaP	prostate:	n/a
45	chr12:2030200-2030250	NHBE	bronchial:	n/a
46	chr12:2031417-2031467	HCF	heart:	n/a
47	chr12:2031546-2031596	NHBE	bronchial:	n/a
48	chr12:2030223-2030273	PFSK-1	brain:	n/a
49	chr12:2030223-2030273	Jurkat	blood:	n/a
50	chr12:2031922-2031972	AG04450	lung:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:2025078..2027565-chr12:2030065..2032960,2	MCF-7	breast:
2	chr12:2031497..2033702-chr12:2034119..2036630,3	MCF-7	breast:
3	chr12:2030801..2033183-chr12:2135415..2137754,2	K562	blood:
4	chr12:2023041..2025540-chr12:2026529..2030092,4	K562	blood:
5	chr12:2028759..2031079-chr12:2033519..2035099,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA1C-1	chr12:2031798-2032033	ENSG00000256706.1

No data

Variant related genes	Relation type
CACNA2D4	TF binding region
CACNA2D4	CpG island
ENSG00000256706	chromatin interactions
ENSG00000151062	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559122965	chr12:2029894-2029895	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181053863	chr12:2029902-2029903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs80254250	chr12:2029940-2029941	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562057359	chr12:2030017-2030018	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529501438	chr12:2030022-2030023	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550763325	chr12:2030029-2030030	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4765865	chr12:2030045-2030046	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139959925	chr12:2030149-2030150	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111379044	chr12:2030151-2030152	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs59608950	chr12:2030156-2030157	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs59848369	chr12:2030159-2030160	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150016670	chr12:2030167-2030168	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534221144	chr12:2030174-2030175	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368466829	chr12:2030191-2030192	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185481415	chr12:2030199-2030200	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190291841	chr12:2030200-2030201	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538093999	chr12:2030261-2030262	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145711281	chr12:2030312-2030313	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7976130	chr12:2030317-2030318	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
20	rs577761696	chr12:2030343-2030344	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs74059661	chr12:2030355-2030356	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553851761	chr12:2030366-2030367	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572009085	chr12:2030376-2030377	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145319894	chr12:2030391-2030392	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541708092	chr12:2030396-2030397	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200336011	chr12:2030401-2030402	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372319100	chr12:2030402-2030403	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529589542	chr12:2030421-2030422	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544493721	chr12:2030422-2030423	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562974753	chr12:2030431-2030432	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs149196009	chr12:2030479-2030480	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183399337	chr12:2030486-2030487	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77937956	chr12:2030515-2030516	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115645055	chr12:2030551-2030552	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549402271	chr12:2030570-2030571	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562257950	chr12:2030610-2030611	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142436145	chr12:2030641-2030642	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538185219	chr12:2030647-2030648	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187119292	chr12:2030657-2030658	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs60501578	chr12:2030670-2030671	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs55643434	chr12:2030725-2030726	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56020694	chr12:2030759-2030760	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56057413	chr12:2030771-2030772	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79459740	chr12:2030825-2030826	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559068191	chr12:2030977-2030978	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538841038	chr12:2031049-2031050	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11610109	chr12:2031107-2031108	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553642476	chr12:2031212-2031213	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572108083	chr12:2031236-2031237	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535936908	chr12:2031247-2031248	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2026600-2030200	Weak transcription	Pancreas	Pancrea
2	chr12:2026600-2031600	Weak transcription	Gastric	stomach
3	chr12:2026800-2033600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:2027200-2033800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:2027600-2033600	Weak transcription	Left Ventricle	heart
6	chr12:2027600-2033600	Weak transcription	Right Ventricle	heart
7	chr12:2027600-2041800	Weak transcription	Fetal Brain Female	brain
8	chr12:2027800-2033800	Weak transcription	Spleen	Spleen
9	chr12:2028000-2030400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:2028200-2030000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:2028200-2030200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:2028200-2030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:2028400-2031400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:2028400-2033600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:2028400-2033600	Weak transcription	Psoas Muscle	Psoas
16	chr12:2028600-2030200	Weak transcription	Placenta	Placenta
17	chr12:2028800-2030000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:2028800-2030000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:2028800-2031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:2028800-2032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:2028800-2032600	Weak transcription	Fetal Heart	heart
22	chr12:2028800-2033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:2028800-2033600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:2028800-2041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:2029000-2030200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:2029000-2037000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:2029200-2032400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:2029400-2030000	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:2029400-2030600	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:2029600-2030600	Enhancers	Fetal Thymus	thymus
31	chr12:2029600-2031400	Enhancers	Primary B cells from cord blood	blood
32	chr12:2029800-2030000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:2029800-2030200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:2029800-2030400	ZNF genes & repeats	Thymus	Thymus
35	chr12:2029800-2030600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:2029800-2030600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr12:2029800-2030800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr12:2030000-2030200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:2030000-2030200	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:2030000-2030600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr12:2030000-2032000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:2030200-2030400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:2030200-2030400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:2030200-2030400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:2030200-2030400	Enhancers	Adipose Nuclei	Adipose
46	chr12:2030200-2030600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
47	chr12:2030200-2030600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:2030200-2030600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr12:2030200-2030600	Enhancers	Fetal Muscle Leg	muscle
50	chr12:2030200-2030600	Active TSS	Pancreas	Pancrea

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