Variant report

Variant	esv3409074
Chromosome Location	chr2:112811506-112814054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:858)
CpG islands
(count:1037)
Chromatin interactive
region (count:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112812791-112813096	K562	blood:	n/a	n/a
2	ARID3A	chr2:112811287-112812109	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:112812795-112813132	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:112813783-112814611	K562	blood:	n/a	n/a
5	ATF1	chr2:112813843-112814306	K562	blood:	n/a	n/a
6	ATF2	chr2:112812676-112813143	GM12878	blood:	n/a	n/a
7	ATF3	chr2:112813705-112814354	K562	blood:	n/a	n/a
8	BACH1	chr2:112811533-112812149	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:112812814-112813029	K562	blood:	n/a	n/a
10	BACH1	chr2:112812751-112814212	H1-hESC	embryonic stem cell:	n/a	chr2:112814156-112814170
11	BCLAF1	chr2:112812719-112813184	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:112812621-112814169	HepG2	liver:	n/a	chr2:112813139-112813155
13	BHLHE40	chr2:112812592-112814420	K562	blood:	n/a	chr2:112813139-112813155
14	BHLHE40	chr2:112811559-112812189	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:112812527-112814337	GM12878	blood:	n/a	chr2:112813139-112813155
16	BHLHE40	chr2:112811032-112812172	K562	blood:	n/a	n/a
17	BRCA1	chr2:112811585-112812170	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr2:112812862-112813819	GM12878	blood:	n/a	n/a
19	BRCA1	chr2:112813065-112813308	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr2:112811358-112812178	HepG2	liver:	n/a	n/a
21	BRCA1	chr2:112812634-112813124	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:112812769-112813975	HepG2	liver:	n/a	n/a
23	CBX3	chr2:112811560-112812418	K562	blood:	n/a	n/a
24	CBX3	chr2:112812640-112813172	K562	blood:	n/a	n/a
25	CBX3	chr2:112813310-112814037	K562	blood:	n/a	n/a
26	CBX3	chr2:112812730-112813039	K562	blood:	n/a	n/a
27	CCNT2	chr2:112811531-112814287	K562	blood:	n/a	chr2:112812910-112812930
28	CEBPB	chr2:112813517-112814304	IMR90	lung:	n/a	n/a
29	CEBPB	chr2:112812804-112813147	K562	blood:	n/a	n/a
30	CEBPB	chr2:112813987-112814222	K562	blood:	n/a	n/a
31	CEBPB	chr2:112813485-112813630	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:112813785-112814341	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr2:112813758-112814306	K562	blood:	n/a	n/a
34	CEBPB	chr2:112813842-112814349	A549	lung:	n/a	n/a
35	CEBPB	chr2:112813941-112814287	K562	blood:	n/a	n/a
36	CEBPB	chr2:112812749-112812979	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr2:112812681-112813106	K562	blood:	n/a	n/a
38	CEBPD	chr2:112812550-112813115	HepG2	liver:	n/a	n/a
39	CEBPD	chr2:112812662-112813065	HepG2	liver:	n/a	n/a
40	CEBPD	chr2:112812681-112813205	K562	blood:	n/a	n/a
41	CEBPD	chr2:112811626-112812026	HepG2	liver:	n/a	n/a
42	CHD1	chr2:112812813-112814132	GM12878	blood:	n/a	n/a
43	CHD1	chr2:112813228-112813921	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr2:112811505-112812116	HepG2	liver:	n/a	n/a
45	CHD2	chr2:112811649-112814278	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr2:112812633-112813610	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr2:112811649-112812280	GM12878	blood:	n/a	n/a
48	CHD2	chr2:112813535-112813735	HepG2	liver:	n/a	n/a
49	CHD2	chr2:112812585-112813329	HepG2	liver:	n/a	n/a
50	CHD2	chr2:112812513-112814213	GM12878	blood:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112812756-112812806	PANC-1	pancreas:	n/a
2	chr2:112811924-112811974	HepG2	liver:	n/a
3	chr2:112812130-112812180	Hepatocyte	liver:	n/a
4	chr2:112814041-112814091	GM12892	blood:	n/a
5	chr2:112812130-112812180	AG09319	gingival:	n/a
6	chr2:112811719-112811769	SK-N-SH_RA	brain:	n/a
7	chr2:112811810-112811860	AoSMC	blood vessel:	n/a
8	chr2:112813174-112813224	BJ	skin:	n/a
9	chr2:112812628-112812678	U87	brain:	n/a
10	chr2:112813174-112813224	HCT-116	colon:	n/a
11	chr2:112811719-112811769	HCF	heart:	n/a
12	chr2:112812957-112813007	AoSMC	blood vessel:	n/a
13	chr2:112812628-112812678	MCF10A-Er-Src	breast:	n/a
14	chr2:112812957-112813007	ECC-1	luminal epithelium:	n/a
15	chr2:112812621-112812671	CMK	blood:	n/a
16	chr2:112812957-112813007	AG09319	gingival:	n/a
17	chr2:112812167-112812217	ECC-1	luminal epithelium:	n/a
18	chr2:112812130-112812180	MCF-7	breast:	n/a
19	chr2:112812957-112813007	HMEC	breast:	n/a
20	chr2:112812772-112812822	HepG2	liver:	n/a
21	chr2:112812751-112812801	NT2-D1	testis:	n/a
22	chr2:112812756-112812806	NHDF-neo	bronchial:	n/a
23	chr2:112812167-112812217	AG09319	gingival:	n/a
24	chr2:112812751-112812801	HCM	heart:	n/a
25	chr2:112812951-112813001	A549	lung:	n/a
26	chr2:112814041-112814091	A549	lung:	n/a
27	chr2:112812951-112813001	HCPEpiC	choroid plexus:	n/a
28	chr2:112811719-112811769	MCF10A-Er-Src	breast:	n/a
29	chr2:112812751-112812801	MCF10A-Er-Src	breast:	n/a
30	chr2:112813174-112813224	ProgFib	skin:	n/a
31	chr2:112812957-112813007	HIPEpiC	eye:	n/a
32	chr2:112811924-112811974	HCPEpiC	choroid plexus:	n/a
33	chr2:112812957-112813007	HCT-116	colon:	n/a
34	chr2:112813174-112813224	HUVEC	blood vessel:	n/a
35	chr2:112814041-112814091	SAEC	small airway:	n/a
36	chr2:112812621-112812671	HAEpiC	amniotic membrane:	n/a
37	chr2:112812756-112812806	SAEC	small airway:	n/a
38	chr2:112814041-112814091	ECC-1	luminal epithelium:	n/a
39	chr2:112812621-112812671	BJ	skin:	n/a
40	chr2:112811719-112811769	AG04449	skin:	fetal
41	chr2:112812621-112812671	HCM	heart:	n/a
42	chr2:112812751-112812801	A549	lung:	n/a
43	chr2:112813174-112813224	SK-N-SH	brain:	n/a
44	chr2:112811719-112811769	NH-A	brain:	n/a
45	chr2:112813613-112813663	NT2-D1	testis:	n/a
46	chr2:112812751-112812801	SAEC	small airway:	n/a
47	chr2:112811924-112811974	A549	lung:	n/a
48	chr2:112812775-112812825	GM12892	blood:	n/a
49	chr2:112811719-112811769	IMR90	lung:	fetal
50	chr2:112813613-112813663	HL-60	blood:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112811348..112813831-chr2:113012320..113014362,3	K562	blood:
2	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
3	chr2:112687076..112688579-chr2:112812009..112814430,2	MCF-7	breast:
4	chr2:112811580..112813458-chr2:113297904..113301248,3	K562	blood:
5	chr2:112813166..112815786-chr2:113032980..113035642,2	MCF-7	breast:
6	chr2:112812169..112814441-chr2:113238418..113240950,3	K562	blood:
7	chr1:231004196..231004880-chr2:112813757..112814547,2	Hela-S3	cervix:
8	chr2:112665558..112667722-chr2:112810644..112812668,2	K562	blood:
9	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
10	chr2:112804262..112806076-chr2:112808977..112811892,2	K562	blood:
11	chr2:112640495..112643597-chr2:112811494..112814256,4	K562	blood:
12	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
13	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
14	chr2:112811436..112813368-chr2:113032583..113034776,2	K562	blood:
15	chr2:112809505..112811729-chr2:113340407..113342286,2	MCF-7	breast:
16	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
17	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
18	chr2:112640328..112643621-chr2:112811494..112814946,7	K562	blood:
19	chr2:112811397..112814190-chr2:113032583..113035282,3	K562	blood:
20	chr2:112640258..112642885-chr2:112811655..112814153,4	MCF-7	breast:
21	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
22	chr2:112813790..112815365-chr2:112920509..112922091,2	K562	blood:
23	chr2:112811348..112812863-chr2:113012587..113014362,2	K562	blood:
24	chr2:112811382..112813355-chr2:113297904..113301187,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H8-3	chr2:112813389-112813800	NONHSAT073680

No data

Variant related genes	Relation type
TMEM87B	TF binding region
TMEM87B	CpG island
ENSG00000114999	chromatin interactions
ENSG00000125611	chromatin interactions
ENSG00000237753	chromatin interactions
ENSG00000153208	chromatin interactions
ENSG00000125630	chromatin interactions
ENSG00000144161	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000240183	chromatin interactions
ENSG00000184752	chromatin interactions
ENSG00000153107	chromatin interactions
ENSG00000119280	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563895350	chr2:112811511-112811512	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs577517234	chr2:112811524-112811525	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs540135603	chr2:112811562-112811563	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs192059706	chr2:112811590-112811591	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs536239207	chr2:112811593-112811594	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs548834683	chr2:112811625-112811626	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs562624826	chr2:112811668-112811669	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs531275526	chr2:112811704-112811705	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs546551836	chr2:112811720-112811721	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs551961250	chr2:112811728-112811729	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs571865715	chr2:112811739-112811740	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs372535612	chr2:112811755-112811756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs182663621	chr2:112811799-112811800	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs6708485	chr2:112811834-112811835	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs548094793	chr2:112811842-112811843	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs3811642	chr2:112811856-112811857	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs199960000	chr2:112811861-112811862	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs369061285	chr2:112811887-112811888	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs536669522	chr2:112811941-112811942	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs556247816	chr2:112811942-112811943	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs570142071	chr2:112812017-112812018	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs538709757	chr2:112812030-112812031	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs557579817	chr2:112812038-112812039	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs577407186	chr2:112812041-112812042	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs112893157	chr2:112812053-112812054	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs540173861	chr2:112812083-112812084	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs553630835	chr2:112812113-112812114	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs573825950	chr2:112812117-112812118	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs542623653	chr2:112812147-112812148	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs199842431	chr2:112812150-112812151	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs187664036	chr2:112812184-112812185	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs562306250	chr2:112812262-112812263	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs55881917	chr2:112812331-112812332	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs558902963	chr2:112812418-112812419	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs373537142	chr2:112812427-112812428	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs569416523	chr2:112812528-112812529	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs199823236	chr2:112812572-112812573	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs190048491	chr2:112812575-112812576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs182702118	chr2:112812576-112812577	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs187318517	chr2:112812610-112812611	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs537171139	chr2:112812613-112812614	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs557089528	chr2:112812617-112812618	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs116083584	chr2:112812623-112812624	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs35474917	chr2:112812758-112812759	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs527865033	chr2:112812764-112812765	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs143315623	chr2:112812782-112812783	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs567973305	chr2:112812791-112812792	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs116355582	chr2:112812832-112812833	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs550150267	chr2:112812841-112812842	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs4078410	chr2:112812842-112812843	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
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
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112805600-112811600	Weak transcription	Aorta	Aorta
2	chr2:112805600-112811600	Weak transcription	Gastric	stomach
3	chr2:112807600-112811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:112809400-112811600	Weak transcription	Pancreas	Pancrea
5	chr2:112810000-112811800	Weak transcription	Small Intestine	intestine
6	chr2:112811000-112811600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:112811000-112811600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:112811000-112811600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:112811000-112811600	Enhancers	Spleen	Spleen
10	chr2:112811000-112811800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:112811000-112811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:112811000-112811800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:112811000-112811800	Flanking Active TSS	Dnd41	blood
14	chr2:112811000-112811800	Flanking Active TSS	K562	blood
15	chr2:112811000-112811800	Flanking Active TSS	NHDF-Ad	bronchial
16	chr2:112811000-112812200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr2:112811200-112811600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:112811200-112811600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:112811200-112811600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:112811200-112811600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:112811200-112811600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:112811200-112811600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:112811200-112811600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr2:112811200-112811600	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr2:112811200-112811600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:112811200-112811600	Flanking Active TSS	Fetal Heart	heart
27	chr2:112811200-112811600	Flanking Active TSS	GM12878-XiMat	blood
28	chr2:112811200-112811800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:112811200-112811800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr2:112811200-112811800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:112811200-112811800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:112811200-112811800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr2:112811200-112811800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:112811200-112811800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:112811200-112811800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr2:112811200-112811800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr2:112811200-112811800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:112811200-112811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:112811200-112811800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr2:112811200-112811800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:112811200-112811800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:112811200-112811800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:112811200-112811800	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr2:112811200-112811800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:112811200-112811800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr2:112811200-112811800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:112811200-112811800	Flanking Active TSS	Colonic Mucosa	Colon
48	chr2:112811200-112811800	Flanking Active TSS	Fetal Lung	lung
49	chr2:112811200-112811800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:112811200-112811800	Flanking Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links