Variant report

Variant	esv33334
Chromosome Location	chr3:46777809-46791431
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	CEBPB	chr3:46780721-46781004	HepG2	liver:	n/a	n/a
2	CEBPB	chr3:46780720-46780724	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr3:46777895-46778249	H1-hESC	embryonic stem cell:	n/a	chr3:46778094-46778115 chr3:46778092-46778110
4	CTCF	chr3:46778040-46778165	MCF-7	breast:	n/a	chr3:46778094-46778115 chr3:46778092-46778110
5	CTCF	chr3:46778020-46778232	H1-hESC	embryonic stem cell:	n/a	chr3:46778094-46778115 chr3:46778092-46778110
6	CTCF	chr3:46777949-46778273	H1-hESC	embryonic stem cell:	n/a	chr3:46778094-46778115 chr3:46778092-46778110
7	CTCF	chr3:46778060-46778210	HepG2	liver:	n/a	chr3:46778094-46778115 chr3:46778092-46778110
8	CTCF	chr3:46778138-46778154	MCF-7	breast:	n/a	n/a
9	E2F4	chr3:46790087-46790145	MCF10A-Er-Src	breast:	n/a	n/a
10	ELF1	chr3:46790686-46790906	K562	blood:	n/a	chr3:46790811-46790824 chr3:46790812-46790823
11	POLR2A	chr3:46783903-46783917	Gliobla	brain:	n/a	n/a
12	POLR2A	chr3:46780834-46780914	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:46781581-46781781	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr3:46783722-46783880	Gliobla	brain:	n/a	n/a
15	RAD21	chr3:46777900-46778306	H1-hESC	embryonic stem cell:	n/a	chr3:46778093-46778112
16	REST	chr3:46784405-46784728	U87	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
17	REST	chr3:46784454-46784750	MCF-7	breast:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
18	REST	chr3:46784469-46784787	Hela-S3	cervix:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
19	REST	chr3:46784486-46784722	GM12878	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
20	REST	chr3:46784431-46784673	PANC-1	pancreas:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
21	REST	chr3:46784438-46784843	HL-60	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
22	REST	chr3:46784477-46784767	K562	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
23	REST	chr3:46784528-46784721	GM12878	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
24	REST	chr3:46784319-46784904	GM12878	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
25	REST	chr3:46784501-46784710	SK-N-SH	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
26	REST	chr3:46784469-46784691	HepG2	liver:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
27	REST	chr3:46784528-46784698	SK-N-SH	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
28	REST	chr3:46784423-46784799	K562	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
29	REST	chr3:46784450-46784761	HCT-116	colon:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
30	REST	chr3:46784367-46784878	PFSK-1	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
31	REST	chr3:46784387-46784805	U87	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
32	REST	chr3:46784404-46784821	H1-hESC	embryonic stem cell:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
33	REST	chr3:46784583-46784685	PFSK-1	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
34	REST	chr3:46784486-46784795	PANC-1	pancreas:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
35	REST	chr3:46784382-46784860	H1-hESC	embryonic stem cell:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
36	REST	chr3:46784421-46784724	PANC-1	pancreas:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
37	REST	chr3:46784409-46784773	PFSK-1	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
38	REST	chr3:46784554-46784702	GM12878	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
39	REST	chr3:46784476-46784680	PFSK-1	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
40	REST	chr3:46784474-46784765	Hela-S3	cervix:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
41	REST	chr3:46784514-46784777	PANC-1	pancreas:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
42	REST	chr3:46784451-46784758	HCT-116	colon:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
43	REST	chr3:46784377-46784834	HL-60	blood:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
44	REST	chr3:46784349-46784955	ECC-1	luminal epithelium:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
45	REST	chr3:46784458-46784706	SK-N-SH	brain:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
46	REST	chr3:46784518-46784701	HepG2	liver:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628
47	REST	chr3:46784483-46784820	HepG2	liver:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
48	REST	chr3:46784467-46784843	MCF-7	breast:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
49	REST	chr3:46784376-46784971	ECC-1	luminal epithelium:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628 chr3:46784702-46784715
50	REST	chr3:46784540-46784707	HepG2	liver:	n/a	chr3:46784614-46784634 chr3:46784620-46784634 chr3:46784619-46784628

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46786238-46786288	HUVEC	blood vessel:	n/a
2	chr3:46789735-46789785	A549	lung:	n/a
3	chr3:46787073-46787123	U87	brain:	n/a
4	chr3:46786387-46786437	U87	brain:	n/a
5	chr3:46786387-46786437	MCF-7	breast:	n/a
6	chr3:46787073-46787123	HCM	heart:	n/a
7	chr3:46786238-46786288	SAEC	small airway:	n/a
8	chr3:46785957-46786007	SKMC	muscle:	n/a
9	chr3:46790182-46790232	MCF-7	breast:	n/a
10	chr3:46778871-46778921	NHDF-neo	bronchial:	n/a
11	chr3:46785957-46786007	HAEpiC	amniotic membrane:	n/a
12	chr3:46786238-46786288	HEEpiC	esophagus:	n/a
13	chr3:46786387-46786437	GM12892	blood:	n/a
14	chr3:46790182-46790232	HRCEpiC	kidney:	n/a
15	chr3:46778871-46778921	RPTEC	kidney:	n/a
16	chr3:46787073-46787123	AG04449	skin:	fetal
17	chr3:46778871-46778921	HNPCEpiC	eye:	n/a
18	chr3:46785957-46786007	Caco-2	colon:	n/a
19	chr3:46790182-46790232	NB4	blood:	n/a
20	chr3:46789735-46789785	HEEpiC	esophagus:	n/a
21	chr3:46790182-46790232	Hepatocyte	liver:	n/a
22	chr3:46786387-46786437	PrEC	prostate:	n/a
23	chr3:46786387-46786437	HL-60	blood:	n/a
24	chr3:46778871-46778921	HL-60	blood:	n/a
25	chr3:46787073-46787123	AG04450	lung:	fetal
26	chr3:46778871-46778921	HEEpiC	esophagus:	n/a
27	chr3:46789735-46789785	IMR90	lung:	fetal
28	chr3:46778871-46778921	Caco-2	colon:	n/a
29	chr3:46778871-46778921	T-47D	breast:	n/a
30	chr3:46789735-46789785	AG10803	skin:	n/a
31	chr3:46786238-46786288	LNCaP	prostate:	n/a
32	chr3:46790182-46790232	SAEC	small airway:	n/a
33	chr3:46778871-46778921	HCPEpiC	choroid plexus:	n/a
34	chr3:46786238-46786288	NH-A	brain:	n/a
35	chr3:46778871-46778921	GM12878	blood:	n/a
36	chr3:46789735-46789785	SK-N-MC	brain:	n/a
37	chr3:46786238-46786288	GM12892	blood:	n/a
38	chr3:46785957-46786007	HRCEpiC	kidney:	n/a
39	chr3:46778871-46778921	GM06990	blood:	n/a
40	chr3:46778871-46778921	HepG2	liver:	n/a
41	chr3:46787073-46787123	H1-hESC	embryonic stem cell:	embryo
42	chr3:46786238-46786288	HCF	heart:	n/a
43	chr3:46785957-46786007	LNCaP	prostate:	n/a
44	chr3:46790182-46790232	NT2-D1	testis:	n/a
45	chr3:46790182-46790232	U87	brain:	n/a
46	chr3:46785957-46786007	AG09319	gingival:	n/a
47	chr3:46786387-46786437	ovcar-3	ovarian:	n/a
48	chr3:46789735-46789785	HCF	heart:	n/a
49	chr3:46787073-46787123	ProgFib	skin:	n/a
50	chr3:46789735-46789785	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46776204..46778019-chr3:46778181..46780158,2	K562	blood:
2	chr3:46785802..46787615-chr3:46790135..46792444,2	K562	blood:
3	chr3:46780631..46782178-chr3:46786371..46787877,2	K562	blood:
4	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:
5	chr3:46783774..46785518-chr3:46915413..46918248,2	MCF-7	breast:
6	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
7	chr3:46720178..46722487-chr3:46787613..46789601,2	K562	blood:
8	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
9	chr3:46764632..46767218-chr3:46782393..46785331,2	K562	blood:
10	chr3:46780631..46782178-chr3:46786371..46787877,2	K562	blood:
11	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
12	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:

Variant related genes	Relation type
PRSS45	TF binding region
PRSS46	TF binding region
PRSS45	CpG island
PRSS46	CpG island
ENSG00000261603	chromatin interactions
ENSG00000188086	chromatin interactions

Extended variants
information (count: 552 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566024131	chr3:46777825-46777826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190268282	chr3:46777857-46777858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181237003	chr3:46777865-46777866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6793535	chr3:46777881-46777882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs6808303	chr3:46777885-46777886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559867624	chr3:46777893-46777894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375933173	chr3:46777915-46777916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548848495	chr3:46777916-46777917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570294179	chr3:46777934-46777935	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142702992	chr3:46777959-46777960	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs6793661	chr3:46778008-46778009	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs147421746	chr3:46778056-46778057	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535095517	chr3:46778142-46778143	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370330762	chr3:46778143-46778144	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs12492359	chr3:46778169-46778170	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536100344	chr3:46778177-46778178	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12492369	chr3:46778225-46778226	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs12486015	chr3:46778254-46778255	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs186737596	chr3:46778271-46778272	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540762059	chr3:46778299-46778300	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564503850	chr3:46778424-46778425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576451246	chr3:46778433-46778434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557321410	chr3:46778468-46778469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540702690	chr3:46778472-46778473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559216046	chr3:46778489-46778490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12486683	chr3:46778510-46778511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs553143687	chr3:46778516-46778517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373772397	chr3:46778556-46778557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375400737	chr3:46778583-46778584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189749781	chr3:46778593-46778594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577926763	chr3:46778594-46778595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545250875	chr3:46778635-46778636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs58800070	chr3:46778636-46778637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141872981	chr3:46778637-46778638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397955121	chr3:46778643-46778644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138077659	chr3:46778677-46778678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs60410557	chr3:46778678-46778679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563916604	chr3:46778680-46778681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531197638	chr3:46778695-46778696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368620641	chr3:46778696-46778697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542640343	chr3:46778701-46778702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12493158	chr3:46778842-46778843	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs528592088	chr3:46778871-46778872	Enhancers Weak transcription Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373381065	chr3:46778881-46778882	Enhancers Weak transcription Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79770858	chr3:46778885-46778886	Enhancers Weak transcription Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145209976	chr3:46778886-46778887	Enhancers Weak transcription Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112372064	chr3:46778904-46778905	Enhancers Weak transcription Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs6763438	chr3:46778988-46778989	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs535944554	chr3:46779054-46779055	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35708476	chr3:46779109-46779110	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	21339820	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	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46744000-46792200	Weak transcription	Right Atrium	heart
2	chr3:46769000-46792400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:46770800-46778000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:46776600-46778800	Weak transcription	Pancreas	Pancrea
5	chr3:46777000-46779800	Enhancers	Thymus	Thymus
6	chr3:46778000-46778200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:46778000-46778200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:46778000-46780000	Enhancers	Fetal Thymus	thymus
9	chr3:46778200-46778400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr3:46778200-46778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:46778400-46779200	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:46778600-46779200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:46778600-46779200	Enhancers	Fetal Muscle Leg	muscle
14	chr3:46778800-46779000	Bivalent Enhancer	HSMM	muscle
15	chr3:46778800-46779200	Enhancers	Left Ventricle	heart
16	chr3:46778800-46779400	Enhancers	Pancreas	Pancrea
17	chr3:46779000-46779200	Enhancers	Spleen	Spleen
18	chr3:46779000-46779400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:46779200-46782000	Weak transcription	Left Ventricle	heart
20	chr3:46779400-46795400	Weak transcription	Spleen	Spleen
21	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
22	chr3:46779600-46780400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:46779800-46792800	Weak transcription	Thymus	Thymus
24	chr3:46780800-46785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:46784400-46785200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:46784400-46785200	Enhancers	Fetal Stomach	stomach
27	chr3:46784600-46785000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:46784600-46785000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:46784600-46785000	Enhancers	Placenta	Placenta
30	chr3:46784600-46785200	Enhancers	Fetal Lung	lung
31	chr3:46784600-46785200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr3:46784800-46785200	Enhancers	Fetal Intestine Small	intestine
33	chr3:46785000-46785200	Weak transcription	Placenta	Placenta
34	chr3:46785000-46785800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:46785000-46786200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:46785000-46789800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:46785200-46785600	Enhancers	Placenta	Placenta
38	chr3:46785200-46799800	Weak transcription	Fetal Intestine Small	intestine
39	chr3:46785600-46789800	Weak transcription	Placenta	Placenta
40	chr3:46785800-46786200	Enhancers	GM12878-XiMat	blood
41	chr3:46785800-46795600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:46786200-46787800	Weak transcription	GM12878-XiMat	blood
43	chr3:46786400-46786600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:46787800-46789200	Enhancers	GM12878-XiMat	blood
45	chr3:46789200-46794200	Weak transcription	GM12878-XiMat	blood
46	chr3:46789600-46789800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:46789600-46790400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:46789600-46790400	Enhancers	Fetal Muscle Leg	muscle
49	chr3:46789800-46790000	Enhancers	Fetal Stomach	stomach
50	chr3:46789800-46790200	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links