Variant report

Variant	esv3377107
Chromosome Location	chr2:39892273-39894821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:610)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:39893498-39893567	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr2:39893130-39893409	K562	blood:	n/a	n/a
3	CHD1	chr2:39892496-39892674	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr2:39893030-39893422	A549	lung:	n/a	n/a
5	CTBP2	chr2:39892004-39892716	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr2:39892940-39894602	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:39893186-39893335	HepG2	liver:	n/a	n/a
8	CTCF	chr2:39893140-39893290	SAEC	small airway:	n/a	n/a
9	CTCF	chr2:39892160-39892310	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr2:39893180-39893330	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr2:39892282-39892400	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:39893260-39893410	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr2:39892180-39892330	HepG2	liver:	n/a	n/a
14	CTCF	chr2:39893120-39893270	WERI-Rb-1	eye:	n/a	n/a
15	E2F6	chr2:39891897-39892587	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr2:39893540-39894214	H1-hESC	embryonic stem cell:	n/a	chr2:39893641-39893653
17	EGR1	chr2:39892887-39893479	H1-hESC	embryonic stem cell:	n/a	n/a
18	ESR1	chr2:39893106-39893482	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr2:39893205-39893543	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr2:39893123-39893473	ECC-1	luminal epithelium:	n/a	n/a
21	HDAC2	chr2:39892982-39893445	HepG2	liver:	n/a	n/a
22	JUND	chr2:39892304-39892601	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr2:39893562-39894227	H1-hESC	embryonic stem cell:	n/a	chr2:39893847-39893863 chr2:39893645-39893655
24	MAX	chr2:39892915-39893522	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr2:39893710-39894039	H1-hESC	embryonic stem cell:	n/a	chr2:39893847-39893863
26	MAX	chr2:39893562-39894106	ECC-1	luminal epithelium:	n/a	chr2:39893847-39893863 chr2:39893645-39893655
27	MAX	chr2:39892933-39893543	HepG2	liver:	n/a	n/a
28	MAX	chr2:39892960-39894083	ECC-1	luminal epithelium:	n/a	chr2:39893847-39893863 chr2:39893645-39893655
29	MAZ	chr2:39893026-39893128	HepG2	liver:	n/a	n/a
30	MXI1	chr2:39892356-39892556	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:39893053-39893233	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:39894027-39894072	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:39893244-39893249	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:39892498-39892649	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:39892355-39892390	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:39892916-39894035	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr2:39892920-39894253	H1-neurons	neurons:	n/a	n/a
38	RAD21	chr2:39893032-39893421	HepG2	liver:	n/a	n/a
39	RAD21	chr2:39892088-39892803	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr2:39892143-39892589	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr2:39892955-39893557	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr2:39892974-39894295	H1-neurons	neurons:	n/a	n/a
43	SIN3A	chr2:39892127-39894357	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3AK20	chr2:39892465-39892795	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr2:39893233-39893471	H1-hESC	embryonic stem cell:	n/a	n/a
46	TBP	chr2:39892238-39892559	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr2:39892946-39893144	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr2:39892912-39893275	H1-hESC	embryonic stem cell:	n/a	chr2:39893181-39893201
49	YY1	chr2:39892043-39892640	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr2:39892928-39893312	H1-hESC	embryonic stem cell:	n/a	chr2:39893181-39893201

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:39892502-39892552	AG09309	skin:	n/a
2	chr2:39893080-39893130	NH-A	brain:	n/a
3	chr2:39893080-39893130	ECC-1	luminal epithelium:	n/a
4	chr2:39893887-39893937	AG04450	lung:	fetal
5	chr2:39893887-39893937	ovcar-3	ovarian:	n/a
6	chr2:39893438-39893488	H1-hESC	embryonic stem cell:	embryo
7	chr2:39893078-39893128	A549	lung:	n/a
8	chr2:39893438-39893488	HRCEpiC	kidney:	n/a
9	chr2:39893078-39893128	HAEpiC	amniotic membrane:	n/a
10	chr2:39892450-39892500	GM12891	blood:	n/a
11	chr2:39892450-39892500	HMEC	breast:	n/a
12	chr2:39892502-39892552	AoSMC	blood vessel:	n/a
13	chr2:39893520-39893570	GM06990	blood:	n/a
14	chr2:39893438-39893488	CMK	blood:	n/a
15	chr2:39892612-39892662	PFSK-1	brain:	n/a
16	chr2:39893078-39893128	SK-N-SH	brain:	n/a
17	chr2:39893185-39893235	SK-N-SH	brain:	n/a
18	chr2:39892612-39892662	HRPEpiC	eye:	n/a
19	chr2:39892612-39892662	HIPEpiC	eye:	n/a
20	chr2:39893261-39893311	RPTEC	kidney:	n/a
21	chr2:39892612-39892662	MCF10A-Er-Src	breast:	n/a
22	chr2:39893080-39893130	SAEC	small airway:	n/a
23	chr2:39893438-39893488	HepG2	liver:	n/a
24	chr2:39892502-39892552	NHDF-neo	bronchial:	n/a
25	chr2:39892612-39892662	HCF	heart:	n/a
26	chr2:39892502-39892552	GM19239	blood:	n/a
27	chr2:39893078-39893128	MCF-7	breast:	n/a
28	chr2:39893887-39893937	AoSMC	blood vessel:	n/a
29	chr2:39892502-39892552	MCF-7	breast:	n/a
30	chr2:39893078-39893128	SAEC	small airway:	n/a
31	chr2:39893261-39893311	SK-N-SH	brain:	n/a
32	chr2:39893080-39893130	SK-N-SH_RA	brain:	n/a
33	chr2:39893887-39893937	SKMC	muscle:	n/a
34	chr2:39893080-39893130	AoSMC	blood vessel:	n/a
35	chr2:39892450-39892500	SK-N-SH	brain:	n/a
36	chr2:39893185-39893235	LNCaP	prostate:	n/a
37	chr2:39892502-39892552	HRE	kidney:	n/a
38	chr2:39893438-39893488	PFSK-1	brain:	n/a
39	chr2:39893185-39893235	GM19239	blood:	n/a
40	chr2:39893520-39893570	AG04450	lung:	fetal
41	chr2:39893438-39893488	HRE	kidney:	n/a
42	chr2:39893078-39893128	SKMC	muscle:	n/a
43	chr2:39893261-39893311	HCM	heart:	n/a
44	chr2:39893887-39893937	SK-N-MC	brain:	n/a
45	chr2:39892450-39892500	SK-N-MC	brain:	n/a
46	chr2:39893078-39893128	GM12878	blood:	n/a
47	chr2:39893078-39893128	HRE	kidney:	n/a
48	chr2:39893520-39893570	LNCaP	prostate:	n/a
49	chr2:39892450-39892500	BE2_C	brain:	n/a
50	chr2:39893078-39893128	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39893666..39896624-chr2:39898263..39900295,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-1	chr2:39892227-39892483	ENSG00000231312.2

No data

Variant related genes	Relation type
TMEM178A	TF binding region
TMEM178A	CpG island

Extended variants
information (count: 91 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58640385	chr2:39892297-39892298	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12989245	chr2:39892373-39892374	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12712652	chr2:39892377-39892378	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553146383	chr2:39892382-39892383	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs188930187	chr2:39892438-39892439	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs545057634	chr2:39892453-39892454	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs374502319	chr2:39892459-39892460	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs564036554	chr2:39892475-39892476	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs576005729	chr2:39892494-39892495	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs543283916	chr2:39892495-39892496	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs561473506	chr2:39892499-39892500	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs367923478	chr2:39892505-39892506	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs528646517	chr2:39892534-39892535	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs372113823	chr2:39892547-39892548	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs564792769	chr2:39892548-39892549	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs192704624	chr2:39892566-39892567	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376989213	chr2:39892587-39892588	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569182494	chr2:39892672-39892673	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs536132049	chr2:39892701-39892702	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548041647	chr2:39892712-39892713	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs13409487	chr2:39892734-39892735	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13409569	chr2:39892798-39892799	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs553465876	chr2:39892811-39892812	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs13397608	chr2:39892812-39892813	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs578017441	chr2:39892813-39892814	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs13384364	chr2:39892854-39892855	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539069307	chr2:39892902-39892903	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557069456	chr2:39892934-39892935	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs13384549	chr2:39893012-39893013	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575665669	chr2:39893073-39893074	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188192195	chr2:39893106-39893107	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373389562	chr2:39893132-39893133	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201221199	chr2:39893174-39893175	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369145931	chr2:39893185-39893186	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561534498	chr2:39893247-39893248	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573490688	chr2:39893267-39893268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200656944	chr2:39893305-39893306	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572019351	chr2:39893354-39893355	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540455776	chr2:39893402-39893403	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17852679	chr2:39893433-39893434	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372463281	chr2:39893438-39893439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377194329	chr2:39893495-39893496	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201650119	chr2:39893504-39893505	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530068371	chr2:39893575-39893576	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542249675	chr2:39893611-39893612	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532107522	chr2:39893718-39893719	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12997188	chr2:39893735-39893736	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557776381	chr2:39893754-39893755	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4567913	chr2:39893785-39893786	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374688547	chr2:39893798-39893799	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39885600-39893600	Weak transcription	Fetal Brain Male	brain
2	chr2:39888400-39892400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:39888600-39892400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:39890000-39892600	Weak transcription	HSMMtube	muscle
5	chr2:39890400-39892400	Enhancers	Fetal Heart	heart
6	chr2:39891200-39894000	Active TSS	Fetal Brain Female	brain
7	chr2:39891600-39892600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr2:39891800-39892800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr2:39891800-39893000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:39891800-39894600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:39892000-39892400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr2:39892000-39892400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:39892000-39893800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:39892000-39893800	Active TSS	HSMM	muscle
15	chr2:39892000-39894000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:39892000-39894200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:39892000-39894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:39892200-39892400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr2:39892200-39892400	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr2:39892200-39892400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:39892200-39892400	Enhancers	Right Atrium	heart
22	chr2:39892200-39892600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:39892200-39892600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:39892200-39892600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:39892200-39892600	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr2:39892200-39892800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:39892200-39892800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr2:39892200-39893200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:39892200-39893600	Active TSS	Brain Anterior Caudate	brain
30	chr2:39892200-39893600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:39892200-39893600	Active TSS	Fetal Muscle Trunk	muscle
32	chr2:39892200-39893800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:39892200-39893800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:39892200-39893800	Bivalent/Poised TSS	Fetal Lung	lung
35	chr2:39892200-39894000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr2:39892200-39894000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:39892200-39894000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr2:39892200-39894000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:39892200-39894000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:39892200-39894000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:39892200-39894000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:39892200-39894000	Active TSS	Fetal Kidney	kidney
43	chr2:39892200-39894600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:39892400-39892600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr2:39892400-39892600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:39892400-39892600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:39892400-39892600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:39892400-39892600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:39892400-39892600	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr2:39892400-39892600	Flanking Active TSS	Brain Hippocampus Middle	brain

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