Variant report

Variant	esv3375288
Chromosome Location	chr3:50539473-50542821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:854)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:50541045-50541381	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:50540115-50540408	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:50540952-50541150	K562	blood:	n/a	n/a
4	CCNT2	chr3:50540690-50541097	K562	blood:	n/a	n/a
5	CHD1	chr3:50540593-50540606	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr3:50540977-50541162	K562	blood:	n/a	n/a
7	CTCF	chr3:50540920-50541070	SAEC	small airway:	n/a	n/a
8	CTCF	chr3:50541420-50541570	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr3:50540988-50541089	LNCaP	prostate:	n/a	n/a
10	CTCF	chr3:50540920-50541070	Caco-2	colon:	n/a	n/a
11	CTCF	chr3:50540925-50541106	HepG2	liver:	n/a	n/a
12	CTCF	chr3:50540140-50540290	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr3:50540405-50540409	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:50540100-50540250	HEK293	kidney:	n/a	chr3:50540122-50540135
15	CTCF	chr3:50541000-50541150	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr3:50540000-50540150	BJ	skin:	n/a	chr3:50540122-50540135
17	CTCF	chr3:50540880-50541030	HepG2	liver:	n/a	n/a
18	CTCF	chr3:50540940-50541090	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr3:50540200-50540350	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr3:50540920-50541070	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr3:50541005-50541078	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr3:50540944-50541079	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:50540936-50541090	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:50540007-50540442	H1-hESC	embryonic stem cell:	n/a	chr3:50540122-50540135
25	CTCF	chr3:50540880-50541030	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr3:50540905-50541079	K562	blood:	n/a	n/a
27	CTCF	chr3:50540898-50541120	K562	blood:	n/a	n/a
28	CTCF	chr3:50541020-50541170	NHEK	skin:	n/a	n/a
29	CTCF	chr3:50540900-50541050	AG04449	skin:	n/a	n/a
30	CTCF	chr3:50540180-50540401	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr3:50540981-50541070	K562	blood:	n/a	n/a
32	CTCF	chr3:50539740-50539890	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr3:50540160-50540310	HEK293	kidney:	n/a	n/a
34	CTCF	chr3:50540140-50540290	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr3:50541168-50541242	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr3:50540934-50541144	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:50540960-50541057	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr3:50540121-50540408	H1-hESC	embryonic stem cell:	n/a	chr3:50540122-50540135
39	CTCF	chr3:50540943-50541089	MCF-7	breast:	n/a	n/a
40	E2F6	chr3:50541033-50541163	K562	blood:	n/a	chr3:50541097-50541107
41	EGR1	chr3:50541039-50541303	K562	blood:	n/a	n/a
42	EGR1	chr3:50541053-50541288	K562	blood:	n/a	n/a
43	FOXP2	chr3:50540950-50541112	PFSK-1	brain:	n/a	n/a
44	GABPA	chr3:50540041-50540867	H1-hESC	embryonic stem cell:	n/a	n/a
45	GABPA	chr3:50540922-50541151	H1-hESC	embryonic stem cell:	n/a	n/a
46	GABPA	chr3:50540122-50540637	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr3:50540940-50541140	H1-hESC	embryonic stem cell:	n/a	n/a
48	HMGN3	chr3:50540537-50540707	K562	blood:	n/a	n/a
49	JUND	chr3:50540935-50541123	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUND	chr3:50540286-50540493	H1-hESC	embryonic stem cell:	n/a	chr3:50540365-50540374 chr3:50540367-50540376

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50540137-50540187	AoSMC	blood vessel:	n/a
2	chr3:50540680-50540730	Hela-S3	cervix:	n/a
3	chr3:50540221-50540271	IMR90	lung:	fetal
4	chr3:50541011-50541061	U87	brain:	n/a
5	chr3:50541407-50541457	Jurkat	blood:	n/a
6	chr3:50541011-50541061	Hepatocyte	liver:	n/a
7	chr3:50541011-50541061	LNCaP	prostate:	n/a
8	chr3:50541028-50541078	SKMC	muscle:	n/a
9	chr3:50541047-50541097	AG04449	skin:	fetal
10	chr3:50540261-50540311	IMR90	lung:	fetal
11	chr3:50541028-50541078	ovcar-3	ovarian:	n/a
12	chr3:50540221-50540271	K562	blood:	n/a
13	chr3:50541028-50541078	IMR90	lung:	fetal
14	chr3:50541026-50541076	MCF-7	breast:	n/a
15	chr3:50540137-50540187	K562	blood:	n/a
16	chr3:50541028-50541078	A549	lung:	n/a
17	chr3:50541195-50541245	MCF10A-Er-Src	breast:	n/a
18	chr3:50541047-50541097	AoSMC	blood vessel:	n/a
19	chr3:50540261-50540311	AG04450	lung:	fetal
20	chr3:50541467-50541517	A549	lung:	n/a
21	chr3:50540137-50540187	GM12878	blood:	n/a
22	chr3:50541078-50541128	HL-60	blood:	n/a
23	chr3:50540261-50540311	HepG2	liver:	n/a
24	chr3:50540261-50540311	HCM	heart:	n/a
25	chr3:50540224-50540274	HMEC	breast:	n/a
26	chr3:50541026-50541076	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:50540224-50540274	PFSK-1	brain:	n/a
28	chr3:50541467-50541517	ECC-1	luminal epithelium:	n/a
29	chr3:50541467-50541517	IMR90	lung:	fetal
30	chr3:50540137-50540187	HepG2	liver:	n/a
31	chr3:50541078-50541128	HIPEpiC	eye:	n/a
32	chr3:50541407-50541457	Hela-S3	cervix:	n/a
33	chr3:50541078-50541128	HPAEpiC	pulmonary alveolar:	n/a
34	chr3:50541011-50541061	HUVEC	blood vessel:	n/a
35	chr3:50540699-50540749	HCM	heart:	n/a
36	chr3:50540699-50540749	NHDF-neo	bronchial:	n/a
37	chr3:50541026-50541076	AG10803	skin:	n/a
38	chr3:50541078-50541128	HCF	heart:	n/a
39	chr3:50541026-50541076	MCF10A-Er-Src	breast:	n/a
40	chr3:50541407-50541457	K562	blood:	n/a
41	chr3:50541047-50541097	HNPCEpiC	eye:	n/a
42	chr3:50540137-50540187	HL-60	blood:	n/a
43	chr3:50541078-50541128	AoSMC	blood vessel:	n/a
44	chr3:50541195-50541245	SK-N-SH	brain:	n/a
45	chr3:50540680-50540730	HIPEpiC	eye:	n/a
46	chr3:50540699-50540749	IMR90	lung:	fetal
47	chr3:50540680-50540730	AG09319	gingival:	n/a
48	chr3:50541407-50541457	ProgFib	skin:	n/a
49	chr3:50540680-50540730	PFSK-1	brain:	n/a
50	chr3:50540224-50540274	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:50531296..50533562-chr3:50538381..50540201,2	K562	blood:
2	chr17:56756686..56757296-chr3:50540540..50541141,2	HCT-116	colon:
3	chr3:50536244..50539844-chr3:50540439..50543863,5	MCF-7	breast:
4	chr3:50541842..50544036-chr3:50546326..50548792,3	K562	blood:
5	chr3:50542747..50545519-chr3:50583462..50585219,2	MCF-7	breast:

No data

Variant related genes	Relation type
CACNA2D2	TF binding region
CACNA2D2	CpG island
ENSG00000200997	chromatin interactions
ENSG00000007402	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542476353	chr3:50539508-50539509	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34860383	chr3:50539527-50539528	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185307139	chr3:50539556-50539557	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34704833	chr3:50539595-50539596	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114586948	chr3:50539616-50539617	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532063027	chr3:50539631-50539632	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140379954	chr3:50539634-50539635	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559206036	chr3:50539700-50539701	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372573706	chr3:50539722-50539723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527846006	chr3:50539775-50539776	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369719778	chr3:50539801-50539802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373656851	chr3:50539905-50539906	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567956837	chr3:50539964-50539965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532084102	chr3:50539974-50539975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569519298	chr3:50539980-50539981	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550181526	chr3:50539988-50539989	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376346059	chr3:50540018-50540019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539053977	chr3:50540040-50540041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554201036	chr3:50540043-50540044	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566053079	chr3:50540056-50540057	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150382377	chr3:50540058-50540059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554516698	chr3:50540071-50540072	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189625746	chr3:50540099-50540100	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548865250	chr3:50540161-50540162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113776012	chr3:50540185-50540186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182170451	chr3:50540255-50540256	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576402380	chr3:50540262-50540263	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116754819	chr3:50540280-50540281	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559353702	chr3:50540331-50540332	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574494252	chr3:50540359-50540360	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527394894	chr3:50540368-50540369	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543195234	chr3:50540374-50540375	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561499828	chr3:50540375-50540376	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371813492	chr3:50540376-50540377	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532019487	chr3:50540399-50540400	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36046126	chr3:50540425-50540426	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374725054	chr3:50540427-50540428	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9817959	chr3:50540434-50540435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532500130	chr3:50540470-50540471	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547480213	chr3:50540493-50540494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566164301	chr3:50540536-50540537	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148156797	chr3:50540587-50540588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143787311	chr3:50540611-50540612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148980752	chr3:50540636-50540637	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs71615489	chr3:50540667-50540668	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569543350	chr3:50540695-50540696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536869186	chr3:50540740-50540741	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558396286	chr3:50540771-50540772	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576728531	chr3:50540774-50540775	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534608101	chr3:50540776-50540777	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50529000-50539600	Weak transcription	Right Atrium	heart
2	chr3:50529800-50540000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:50537000-50539600	Weak transcription	Pancreas	Pancrea
4	chr3:50538000-50539600	Weak transcription	Spleen	Spleen
5	chr3:50538600-50540000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:50538800-50539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:50538800-50539800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:50538800-50539800	Weak transcription	Right Ventricle	heart
9	chr3:50539000-50541400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:50539200-50539600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr3:50539200-50539600	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr3:50539200-50539600	Bivalent Enhancer	Fetal Kidney	kidney
13	chr3:50539200-50539800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:50539200-50539800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr3:50539200-50539800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr3:50539200-50539800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:50539200-50539800	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr3:50539200-50540800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr3:50539400-50539600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr3:50539400-50539600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr3:50539400-50539600	Enhancers	Gastric	stomach
22	chr3:50539400-50539800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr3:50539400-50539800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:50539400-50539800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr3:50539400-50539800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr3:50539400-50539800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr3:50539400-50539800	Active TSS	Lung	lung
28	chr3:50539400-50540000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:50539400-50540000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:50539400-50540000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:50539400-50540000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr3:50539400-50540000	Enhancers	Fetal Heart	heart
33	chr3:50539400-50540000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr3:50539400-50540200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:50539400-50540400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:50539400-50540400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr3:50539400-50541200	Active TSS	Brain Angular Gyrus	brain
38	chr3:50539600-50539800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
39	chr3:50539600-50539800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr3:50539600-50539800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr3:50539600-50539800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:50539600-50539800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:50539600-50539800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr3:50539600-50539800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:50539600-50539800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr3:50539600-50539800	Flanking Active TSS	Gastric	stomach
47	chr3:50539600-50539800	Enhancers	Right Atrium	heart
48	chr3:50539600-50539800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr3:50539600-50540000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:50539600-50540000	Bivalent Enhancer	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links