Variant report

Variant	esv1799050
Chromosome Location	chr2:112009452-112382547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4565)
CpG islands
(count:367)
Chromatin interactive
region (count:22)
LncRNA
region (count:84)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:4565 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112191601-112191749	K562	blood:	n/a	n/a
2	ARID3A	chr2:112134733-112134923	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:112165582-112165606	K562	blood:	n/a	n/a
4	ARID3A	chr2:112382440-112382785	K562	blood:	n/a	n/a
5	ARID3A	chr2:112286629-112286892	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:112376535-112377049	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:112077982-112078035	K562	blood:	n/a	n/a
8	ARID3A	chr2:112078700-112078866	K562	blood:	n/a	n/a
9	ARID3A	chr2:112374864-112376031	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:112142989-112143245	K562	blood:	n/a	n/a
11	ARID3A	chr2:112221794-112221988	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:112377103-112377411	K562	blood:	n/a	n/a
13	ARID3A	chr2:112279969-112280556	HepG2	liver:	n/a	n/a
14	ATF1	chr2:112174751-112174909	K562	blood:	n/a	n/a
15	ATF1	chr2:112104247-112104437	K562	blood:	n/a	n/a
16	ATF1	chr2:112139588-112139732	K562	blood:	n/a	n/a
17	ATF1	chr2:112165410-112165614	K562	blood:	n/a	n/a
18	ATF1	chr2:112382410-112382671	K562	blood:	n/a	n/a
19	ATF1	chr2:112191568-112191846	K562	blood:	n/a	n/a
20	ATF1	chr2:112174026-112174226	K562	blood:	n/a	n/a
21	ATF1	chr2:112123600-112123901	K562	blood:	n/a	n/a
22	ATF1	chr2:112251003-112251203	K562	blood:	n/a	n/a
23	ATF1	chr2:112252616-112252812	K562	blood:	n/a	n/a
24	ATF2	chr2:112183348-112183699	GM12878	blood:	n/a	n/a
25	ATF2	chr2:112183361-112183645	GM12878	blood:	n/a	n/a
26	ATF2	chr2:112236677-112236938	GM12878	blood:	n/a	n/a
27	ATF3	chr2:112292952-112293475	HepG2	liver:	n/a	chr2:112293252-112293272 chr2:112293263-112293272
28	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
29	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
30	BACH1	chr2:112251425-112251440	K562	blood:	n/a	n/a
31	BACH1	chr2:112143146-112143417	K562	blood:	n/a	n/a
32	BATF	chr2:112250963-112251779	GM12878	blood:	n/a	chr2:112251535-112251545 chr2:112251573-112251582
33	BATF	chr2:112037291-112037501	GM12878	blood:	n/a	n/a
34	BATF	chr2:112251898-112252984	GM12878	blood:	n/a	chr2:112252692-112252702 chr2:112252678-112252688
35	BATF	chr2:112193854-112194550	GM12878	blood:	n/a	chr2:112194264-112194272
36	BATF	chr2:112029496-112029836	GM12878	blood:	n/a	chr2:112029663-112029674
37	BATF	chr2:112282643-112283006	GM12878	blood:	n/a	n/a
38	BATF	chr2:112049833-112050062	GM12878	blood:	n/a	n/a
39	BATF	chr2:112182048-112182971	GM12878	blood:	n/a	n/a
40	BATF	chr2:112248607-112249357	GM12878	blood:	n/a	n/a
41	BATF	chr2:112290692-112291073	GM12878	blood:	n/a	chr2:112290906-112290916 chr2:112290905-112290916
42	BATF	chr2:112209363-112210356	GM12878	blood:	n/a	n/a
43	BATF	chr2:112193934-112194446	GM12878	blood:	n/a	chr2:112194264-112194272
44	BATF	chr2:112195786-112196106	GM12878	blood:	n/a	n/a
45	BATF	chr2:112237987-112238183	GM12878	blood:	n/a	n/a
46	BATF	chr2:112190573-112190841	GM12878	blood:	n/a	n/a
47	BATF	chr2:112077193-112077517	GM12878	blood:	n/a	n/a
48	BATF	chr2:112186898-112187455	GM12878	blood:	n/a	n/a
49	BATF	chr2:112209629-112210364	GM12878	blood:	n/a	n/a
50	BATF	chr2:112248667-112249139	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112375854-112375904	HUVEC	blood vessel:	n/a
2	chr2:112375854-112375904	HUVEC	blood vessel:	n/a
3	chr2:112375854-112375904	ProgFib	skin:	n/a
4	chr2:112124118-112124168	HCM	heart:	n/a
5	chr2:112375854-112375904	K562	blood:	n/a
6	chr2:112252254-112252304	MCF-7	breast:	n/a
7	chr2:112293267-112293317	GM12892	blood:	n/a
8	chr2:112293267-112293317	HRCEpiC	kidney:	n/a
9	chr2:112293267-112293317	ovcar-3	ovarian:	n/a
10	chr2:112252254-112252304	SKMC	muscle:	n/a
11	chr2:112375854-112375904	MCF-7	breast:	n/a
12	chr2:112124380-112124430	SAEC	small airway:	n/a
13	chr2:112252254-112252304	HepG2	liver:	n/a
14	chr2:112280286-112280336	HIPEpiC	eye:	n/a
15	chr2:112124380-112124430	AoSMC	blood vessel:	n/a
16	chr2:112293267-112293317	Caco-2	colon:	n/a
17	chr2:112252254-112252304	Jurkat	blood:	n/a
18	chr2:112375854-112375904	Hela-S3	cervix:	n/a
19	chr2:112252254-112252304	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:112124118-112124168	HCF	heart:	n/a
21	chr2:112252254-112252304	HMEC	breast:	n/a
22	chr2:112124118-112124168	GM19239	blood:	n/a
23	chr2:112280286-112280336	HepG2	liver:	n/a
24	chr2:112252254-112252304	HIPEpiC	eye:	n/a
25	chr2:112124118-112124168	Hela-S3	cervix:	n/a
26	chr2:112252254-112252304	MCF10A-Er-Src	breast:	n/a
27	chr2:112280286-112280336	Jurkat	blood:	n/a
28	chr2:112293267-112293317	ECC-1	luminal epithelium:	n/a
29	chr2:112124380-112124430	NH-A	brain:	n/a
30	chr2:112252254-112252304	HRPEpiC	eye:	n/a
31	chr2:112280286-112280336	ovcar-3	ovarian:	n/a
32	chr2:112124118-112124168	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:112293267-112293317	AG04450	lung:	fetal
34	chr2:112252254-112252304	BE2_C	brain:	n/a
35	chr2:112124118-112124168	AG04450	lung:	fetal
36	chr2:112124380-112124430	GM19239	blood:	n/a
37	chr2:112124380-112124430	A549	lung:	n/a
38	chr2:112375854-112375904	HRCEpiC	kidney:	n/a
39	chr2:112293267-112293317	HNPCEpiC	eye:	n/a
40	chr2:112124380-112124430	HCM	heart:	n/a
41	chr2:112252254-112252304	AG09309	skin:	n/a
42	chr2:112293267-112293317	NT2-D1	testis:	n/a
43	chr2:112375854-112375904	AG09319	gingival:	n/a
44	chr2:112252254-112252304	HRE	kidney:	n/a
45	chr2:112252254-112252304	PrEC	prostate:	n/a
46	chr2:112293267-112293317	HepG2	liver:	n/a
47	chr2:112124380-112124430	Jurkat	blood:	n/a
48	chr2:112375854-112375904	NHDF-neo	bronchial:	n/a
49	chr2:112293267-112293317	GM06990	blood:	n/a
50	chr2:112252254-112252304	GM19239	blood:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112376956..112377705-chr2:112424491..112425897,3	MCF-7	breast:
2	chr2:112374742..112377562-chr2:112458693..112461036,2	MCF-7	breast:
3	chr2:112374024..112376697-chr2:112377578..112380485,2	K562	blood:
4	chr2:112158086..112161064-chr8:43095226..43096729,2	MCF-7	breast:
5	chr1:144533941..144534634-chr2:112378543..112379544,3	HCT-116	colon:
6	chr2:112374024..112376697-chr2:112377578..112380485,2	K562	blood:
7	chr2:112375556..112378419-chr2:112378851..112380695,2	MCF-7	breast:
8	chr2:111877705..111880008-chr2:112211679..112213711,2	MCF-7	breast:
9	chr2:111878316..111879893-chr2:112101721..112103928,2	MCF-7	breast:
10	chr2:112375556..112378419-chr2:112378851..112380695,2	MCF-7	breast:
11	chr2:111878764..111880387-chr2:112231090..112233888,2	MCF-7	breast:
12	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
13	chr2:112374717..112376877-chr2:112415569..112417178,2	MCF-7	breast:
14	chr2:111879395..111881005-chr2:112073345..112075122,2	MCF-7	breast:
15	chr2:112377497..112380123-chr2:112459340..112461483,2	MCF-7	breast:
16	chr2:112376832..112377622-chr2:112493675..112494396,3	MCF-7	breast:
17	chr2:112377428..112379190-chr2:112425946..112427813,2	MCF-7	breast:
18	chr2:112376815..112377394-chr2:112421087..112421873,3	MCF-7	breast:
19	chr2:112377013..112378994-chr2:112455600..112458086,2	K562	blood:
20	chr2:112376861..112378670-chr2:112458387..112460460,2	K562	blood:
21	chr2:112239413..112241217-chr2:112461159..112463413,2	MCF-7	breast:
22	chr2:112381593..112384142-chr2:112386347..112388792,2	MCF-7	breast:

(count:84 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
2	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
3	lnc-AC108463.1-3	chr2:112252462-112252692	NONHSAT073642
4	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
5	lnc-BCL2L11-7	chr2:112141383-112141840	NONHSAT147111
6	lnc-ANAPC1-3	chr2:112315990-112317514	NONHSAT073659
7	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
8	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
9	lnc-BCL2L11-3	chr2:112249107-112249838	NONHSAT073654
10	lnc-MERTK-1	chr2:112365277-112365592	NONHSAT073660
11	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
12	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
13	lnc-AC108463.1-3	chr2:112252462-112252625	ENSG00000172965.6
14	lnc-AC108463.1-3	chr2:112199085-112199198	ENSG00000172965.6
15	lnc-BCL2L11-5	chr2:112081976-112082063	l_1923_chr2:112081839-112086268_testes
16	lnc-BCL2L11-8	chr2:112186899-112187197	NONHSAT073647
17	lnc-AC108463.1-3	chr2:112252462-112252597	ENSG00000172965.6
18	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
19	lnc-AC108463.1-3	chr2:112252462-112252677	ENSG00000172965.6
20	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes
21	lnc-BCL2L11-3	chr2:112249107-112249838	NONHSAT073656
22	lnc-AC108463.1-3	chr2:112186886-112187197	NONHSAT073642
23	lnc-AC108463.1-3	chr2:112101638-112101675	ENSG00000172965.10
24	lnc-BCL2L11-3	chr2:112268201-112268567	XLOC_001625
25	lnc-AC108463.1-3	chr2:112252462-112252625	ENSG00000172965.6
26	lnc-AC108463.1-3	chr2:112237484-112237638	ENSG00000172965.6
27	lnc-AC108463.1-2	chr2:112249520-112250145	ENSG00000224959
28	lnc-AC108463.1-3	chr2:112124591-112125152	NONHSAT073640
29	lnc-BCL2L11-6	chr2:112124594-112124991	NONHSAT073618
30	lnc-AC108463.1-4	chr2:112024419-112025062	NONHSAT073632
31	lnc-AC108463.1-3	chr2:112252462-112252611	ENSG00000172965.6
32	lnc-MERTK-1	chr2:112369479-112370095	XLOC_001626
33	lnc-AC108463.1-3	chr2:112237746-112237838	ENSG00000172965.6
34	lnc-AC108463.1-3	chr2:112101668-112101814	ENSG00000172965.6
35	lnc-AC108463.1-3	chr2:112227364-112227376	NONHSAT073639
36	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
37	lnc-AC108463.1-3	chr2:112252462-112252692	NONHSAT073622
38	lnc-AC108463.1-3	chr2:112125064-112125102	ENSG00000172965.10
39	lnc-AC108463.1-3	chr2:112252462-112252540	NONHSAT073639
40	lnc-AC108463.1-3	chr2:112125064-112125152	NONHSAT073622
41	lnc-AC108463.1-3	chr2:112237484-112237638	ENSG00000172965.6
42	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
43	lnc-AC108463.1-2	chr2:112252134-112252388	ENSG00000224959
44	lnc-AC108463.1-3	chr2:112033908-112033997	ENSG00000172965.6
45	lnc-BCL2L11-3	chr2:112257365-112258585	NONHSAT073658
46	lnc-AC108463.1-3	chr2:112101789-112101814	NONHSAT073639
47	lnc-BCL2L11-7	chr2:112141329-112142569	NONHSAT073641
48	lnc-AC108463.1-3	chr2:112237484-112237657	NONHSAT073639
49	lnc-AC108463.1-4	chr2:112024445-112025050	ENSG00000270190.1
50	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4435	chr2:112078638-112078659	MIMAT0018951_1

No data

Variant related genes	Relation type
ENSG00000270190	TF binding region
RPS14P4	TF binding region
MIR4435-1HG	TF binding region
ENSG00000229118	TF binding region
ENSG00000271635	TF binding region
ENSG00000223973	TF binding region
ENSG00000240350	TF binding region
MIR4435-1	TF binding region
ENSG00000224959	TF binding region
ENSG00000225744	TF binding region
ENSG00000270190	CpG island
RPS14P4	CpG island
MIR4435-1HG	CpG island
ENSG00000229118	CpG island
ENSG00000271635	CpG island
ENSG00000223973	CpG island
ENSG00000240350	CpG island
MIR4435-1	CpG island
ENSG00000224959	CpG island
ENSG00000225744	CpG island
ENSG00000201699	chromatin interactions
ENSG00000153094	chromatin interactions
KLHL24	miRNA target sites
ASCC3	miRNA target sites
ITSN2	miRNA target sites

Extended variants
information (count: 9325 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:9325 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547847076	chr2:112009472-112009473	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs568369825	chr2:112009524-112009525	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536929359	chr2:112009532-112009533	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113107882	chr2:112009535-112009536	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78619883	chr2:112009611-112009612	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138203241	chr2:112009616-112009617	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550171679	chr2:112009623-112009624	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553060076	chr2:112009681-112009682	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566591863	chr2:112009682-112009683	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535864947	chr2:112009702-112009703	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570283996	chr2:112009723-112009724	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555455751	chr2:112009730-112009731	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs80277472	chr2:112009731-112009732	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544570343	chr2:112009732-112009733	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558439342	chr2:112009772-112009773	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs578222221	chr2:112009785-112009786	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190040731	chr2:112009811-112009812	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142225444	chr2:112009829-112009830	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528151257	chr2:112009831-112009832	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536092425	chr2:112009872-112009873	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541841526	chr2:112009926-112009927	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561516985	chr2:112009986-112009987	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530880965	chr2:112010012-112010013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111686077	chr2:112010020-112010021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555987856	chr2:112010046-112010047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570373530	chr2:112010083-112010084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs56830046	chr2:112010090-112010091	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72837868	chr2:112010094-112010095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143192579	chr2:112010107-112010108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553741623	chr2:112010138-112010139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs76665983	chr2:112010221-112010222	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115867611	chr2:112010289-112010290	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148238596	chr2:112010290-112010291	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538196191	chr2:112010328-112010329	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558500495	chr2:112010358-112010359	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201344184	chr2:112010362-112010363	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375248301	chr2:112010363-112010364	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540855159	chr2:112010375-112010376	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554389541	chr2:112010421-112010422	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4308124	chr2:112010486-112010487	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs62160393	chr2:112010534-112010535	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs199965440	chr2:112010549-112010550	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs60460748	chr2:112010551-112010552	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373877104	chr2:112010557-112010558	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561775474	chr2:112010562-112010563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs62160394	chr2:112010564-112010565	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556490722	chr2:112010611-112010612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376478961	chr2:112010703-112010704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374395441	chr2:112010704-112010705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561549995	chr2:112010706-112010707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Breast cancer	22314128	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:3195 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111977600-112011400	Weak transcription	A549	lung
2	chr2:111985800-112009600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:111994000-112009600	Weak transcription	Left Ventricle	heart
4	chr2:112005600-112015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:112006200-112020200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:112006400-112011600	Weak transcription	NH-A	brain
7	chr2:112006800-112011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:112008400-112012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:112008600-112048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:112009000-112009600	ZNF genes & repeats	Dnd41	blood
11	chr2:112009000-112010000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:112009200-112022600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:112009400-112010000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:112009400-112010200	Enhancers	HSMM	muscle
15	chr2:112009400-112010200	Flanking Active TSS	HSMMtube	muscle
16	chr2:112009600-112009800	Enhancers	Left Ventricle	heart
17	chr2:112009600-112010000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:112009600-112010000	Enhancers	Psoas Muscle	Psoas
19	chr2:112009800-112010000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:112009800-112010200	Enhancers	HMEC	breast
21	chr2:112010000-112010400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:112010200-112010600	Active TSS	HSMMtube	muscle
23	chr2:112010200-112015400	Weak transcription	HMEC	breast
24	chr2:112010600-112024600	Weak transcription	HSMMtube	muscle
25	chr2:112015400-112016600	Enhancers	HMEC	breast
26	chr2:112015800-112016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:112016000-112016400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:112016000-112016400	Enhancers	NHEK	skin
29	chr2:112016200-112016600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:112016400-112016600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:112016600-112029000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:112019000-112019200	Enhancers	Ovary	ovary
33	chr2:112019200-112024200	Weak transcription	Ovary	ovary
34	chr2:112019200-112032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:112020200-112020600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:112020200-112020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:112020200-112020600	Enhancers	Fetal Stomach	stomach
38	chr2:112020200-112020600	Enhancers	NHLF	lung
39	chr2:112020400-112020600	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:112020400-112020600	Enhancers	Lung	lung
41	chr2:112020600-112021800	Weak transcription	NHLF	lung
42	chr2:112020600-112024200	Weak transcription	Lung	lung
43	chr2:112020600-112024600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:112020600-112048000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:112022000-112022200	Enhancers	NHLF	lung
46	chr2:112022400-112022600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:112022600-112022800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:112022600-112023000	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:112022600-112023400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:112022800-112031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links