Variant report

Variant	nsv462517
Chromosome Location	chr1:92215725-92598705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4724)
CpG islands
(count:4702)
Chromatin interactive
region (count:136)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4724 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:92317145-92317468	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:92283136-92283452	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:92424619-92424819	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:92285078-92285270	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:92463047-92463494	K562	blood:	n/a	n/a
6	ARID3A	chr1:92300668-92300994	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:92351519-92352531	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:92310527-92311162	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:92348918-92349315	K562	blood:	n/a	n/a
10	ARID3A	chr1:92348921-92349309	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:92235102-92235184	K562	blood:	n/a	n/a
12	ARID3A	chr1:92228764-92229274	K562	blood:	n/a	n/a
13	ARID3A	chr1:92463265-92463529	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:92504254-92504757	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:92292432-92293961	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:92281548-92281943	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:92295888-92296212	HepG2	liver:	n/a	n/a
18	ARID3A	chr1:92272469-92272669	HepG2	liver:	n/a	n/a
19	ARID3A	chr1:92258609-92258748	K562	blood:	n/a	n/a
20	ARID3A	chr1:92545681-92545684	HepG2	liver:	n/a	n/a
21	ARID3A	chr1:92392821-92393186	HepG2	liver:	n/a	n/a
22	ARID3A	chr1:92392911-92393150	K562	blood:	n/a	n/a
23	ARID3A	chr1:92344000-92344448	HepG2	liver:	n/a	n/a
24	ARID3A	chr1:92256925-92256931	K562	blood:	n/a	n/a
25	ARID3A	chr1:92545717-92545724	K562	blood:	n/a	n/a
26	ARID3A	chr1:92296732-92297514	HepG2	liver:	n/a	chr1:92297485-92297501
27	ARID3A	chr1:92282827-92282923	K562	blood:	n/a	n/a
28	ARID3A	chr1:92351242-92351293	HepG2	liver:	n/a	n/a
29	ATF1	chr1:92270129-92270816	K562	blood:	n/a	n/a
30	ATF1	chr1:92591884-92591960	K562	blood:	n/a	n/a
31	ATF1	chr1:92231509-92231735	K562	blood:	n/a	n/a
32	ATF1	chr1:92360017-92360202	K562	blood:	n/a	n/a
33	ATF1	chr1:92530637-92530857	K562	blood:	n/a	n/a
34	ATF1	chr1:92228791-92229259	K562	blood:	n/a	n/a
35	ATF2	chr1:92270002-92270575	GM12878	blood:	n/a	n/a
36	ATF2	chr1:92341664-92342230	GM12878	blood:	n/a	n/a
37	ATF2	chr1:92269217-92270649	GM12878	blood:	n/a	n/a
38	ATF2	chr1:92217766-92218281	GM12878	blood:	n/a	n/a
39	ATF2	chr1:92338095-92338511	GM12878	blood:	n/a	n/a
40	ATF2	chr1:92343239-92343765	GM12878	blood:	n/a	n/a
41	ATF2	chr1:92269352-92269901	GM12878	blood:	n/a	n/a
42	ATF2	chr1:92338008-92338650	GM12878	blood:	n/a	n/a
43	ATF2	chr1:92343078-92343855	GM12878	blood:	n/a	n/a
44	ATF2	chr1:92217758-92218330	GM12878	blood:	n/a	n/a
45	ATF3	chr1:92270157-92270708	K562	blood:	n/a	n/a
46	ATF3	chr1:92351477-92351827	A549	lung:	n/a	n/a
47	ATF3	chr1:92414808-92414936	K562	blood:	n/a	chr1:92414878-92414887 chr1:92414867-92414887
48	BACH1	chr1:92283656-92284243	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr1:92352167-92352293	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr1:92458760-92458932	K562	blood:	n/a	n/a

(count:4702 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92350430-92350480	HepG2	liver:	n/a
2	chr1:92234946-92234996	Hela-S3	cervix:	n/a
3	chr1:92216881-92216931	BJ	skin:	n/a
4	chr1:92415048-92415098	SK-N-MC	brain:	n/a
5	chr1:92351695-92351745	HMEC	breast:	n/a
6	chr1:92350430-92350480	HepG2	liver:	n/a
7	chr1:92234946-92234996	Hela-S3	cervix:	n/a
8	chr1:92216881-92216931	BJ	skin:	n/a
9	chr1:92415048-92415098	SK-N-MC	brain:	n/a
10	chr1:92351695-92351745	HMEC	breast:	n/a
11	chr1:92545224-92545274	MCF-7	breast:	n/a
12	chr1:92295946-92295996	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:92414221-92414271	Caco-2	colon:	n/a
14	chr1:92495877-92495927	NB4	blood:	n/a
15	chr1:92546470-92546520	ProgFib	skin:	n/a
16	chr1:92491486-92491536	GM12892	blood:	n/a
17	chr1:92495083-92495133	SKMC	muscle:	n/a
18	chr1:92351682-92351732	HNPCEpiC	eye:	n/a
19	chr1:92495818-92495868	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:92495877-92495927	SK-N-MC	brain:	n/a
21	chr1:92282206-92282256	HL-60	blood:	n/a
22	chr1:92247732-92247782	GM19239	blood:	n/a
23	chr1:92234946-92234996	Caco-2	colon:	n/a
24	chr1:92545662-92545712	AG04450	lung:	fetal
25	chr1:92352407-92352457	AoSMC	blood vessel:	n/a
26	chr1:92263858-92263908	U87	brain:	n/a
27	chr1:92352084-92352134	AG04449	skin:	fetal
28	chr1:92351956-92352006	Hepatocyte	liver:	n/a
29	chr1:92546470-92546520	AoSMC	blood vessel:	n/a
30	chr1:92350133-92350183	HRCEpiC	kidney:	n/a
31	chr1:92351682-92351732	SK-N-SH	brain:	n/a
32	chr1:92338262-92338312	HCT-116	colon:	n/a
33	chr1:92545898-92545948	Hepatocyte	liver:	n/a
34	chr1:92352407-92352457	GM12892	blood:	n/a
35	chr1:92414221-92414271	HL-60	blood:	n/a
36	chr1:92545224-92545274	A549	lung:	n/a
37	chr1:92351547-92351597	HIPEpiC	eye:	n/a
38	chr1:92351216-92351266	A549	lung:	n/a
39	chr1:92350430-92350480	IMR90	lung:	fetal
40	chr1:92414782-92414832	NT2-D1	testis:	n/a
41	chr1:92414344-92414394	ovcar-3	ovarian:	n/a
42	chr1:92502933-92502983	HCF	heart:	n/a
43	chr1:92350568-92350618	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:92416676-92416726	GM06990	blood:	n/a
45	chr1:92351487-92351537	K562	blood:	n/a
46	chr1:92502933-92502983	NB4	blood:	n/a
47	chr1:92282206-92282256	T-47D	breast:	n/a
48	chr1:92295946-92295996	AoSMC	blood vessel:	n/a
49	chr1:92414985-92415035	U87	brain:	n/a
50	chr1:92414344-92414394	PFSK-1	brain:	n/a

(count:136 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:92418160..92421480-chr1:92423319..92426988,3	K562	blood:
2	chr1:91976686..91977638-chr1:92392584..92393518,2	K562	blood:
3	chr1:92597223..92599261-chr1:92601215..92603024,2	K562	blood:
4	chr1:92218784..92221286-chr1:92225561..92227867,2	K562	blood:
5	chr1:92288953..92291560-chr1:92301020..92303109,2	K562	blood:
6	chr1:92506546..92509433-chr1:92514602..92517083,2	K562	blood:
7	chr1:92218389..92220154-chr1:92230858..92233374,2	K562	blood:
8	chr1:92226383..92229371-chr1:92235062..92236732,2	K562	blood:
9	chr1:91976702..91977558-chr1:92348916..92349656,2	MCF-7	breast:
10	chr1:92262741..92265780-chr1:92267189..92269576,3	K562	blood:
11	chr1:92271912..92274176-chr1:92284969..92287951,2	K562	blood:
12	chr1:92556197..92558083-chr1:92563000..92565811,2	MCF-7	breast:
13	chr1:92316915..92318823-chr1:92321459..92323103,2	K562	blood:
14	chr1:92556197..92558083-chr1:92563000..92565811,2	MCF-7	breast:
15	chr1:92544652..92546280-chr1:92558053..92559585,2	K562	blood:
16	chr1:92242856..92244541-chr1:92248702..92251001,2	K562	blood:
17	chr1:92529998..92532866-chr1:92545519..92547678,2	MCF-7	breast:
18	chr1:92258357..92261637-chr1:92263209..92266078,4	K562	blood:
19	chr1:92271912..92274176-chr1:92284969..92287951,2	K562	blood:
20	chr1:92306378..92308491-chr1:92309526..92312029,2	K562	blood:
21	chr1:92211221..92213860-chr1:92214321..92216295,2	K562	blood:
22	chr1:92294575..92296142-chr1:92299914..92302131,2	K562	blood:
23	chr1:92085074..92086910-chr1:92278209..92279900,2	K562	blood:
24	chr1:92239334..92241615-chr1:92243876..92245492,2	K562	blood:
25	chr1:92226019..92229425-chr1:92229716..92232598,3	K562	blood:
26	chr1:92207551..92212491-chr1:92212891..92216237,4	K562	blood:
27	chr1:92535153..92538093-chr1:92546590..92548474,2	K562	blood:
28	chr1:92249408..92251334-chr1:92252607..92255578,2	K562	blood:
29	chr1:92359622..92362110-chr1:92365556..92367175,2	K562	blood:
30	chr1:92274050..92276390-chr1:92277677..92279989,2	K562	blood:
31	chr1:92359622..92362110-chr1:92365556..92367175,2	K562	blood:
32	chr1:92206771..92209600-chr1:92218197..92220922,3	K562	blood:
33	chr1:92232541..92234077-chr1:92245076..92247021,2	K562	blood:
34	chr1:92243502..92246899-chr1:92255853..92258486,3	K562	blood:
35	chr1:92494787..92497358-chr1:92544717..92548251,3	MCF-7	breast:
36	chr1:92258357..92261493-chr1:92263209..92266078,3	K562	blood:
37	chr1:92309780..92313855-chr1:92314421..92317529,4	K562	blood:
38	chr1:92415221..92417669-chr1:92420291..92422618,2	K562	blood:
39	chr1:92529291..92531947-chr1:92544374..92546080,2	K562	blood:
40	chr1:92490161..92492607-chr1:92493368..92497617,3	K562	blood:
41	chr1:92239334..92241615-chr1:92243876..92245492,2	K562	blood:
42	chr1:92219539..92221286-chr1:92226157..92227867,2	K562	blood:
43	chr1:92221438..92225438-chr1:92226162..92228913,3	K562	blood:
44	chr1:92222836..92226137-chr1:92226478..92228913,3	K562	blood:
45	chr1:92252697..92255267-chr1:92255906..92257431,2	K562	blood:
46	chr1:92259196..92261708-chr1:92278967..92281416,2	K562	blood:
47	chr1:91995716..91996502-chr1:92392369..92393018,2	MCF-7	breast:
48	chr1:92252697..92255267-chr1:92255906..92257431,2	K562	blood:
49	chr1:92494741..92496705-chr1:92764193..92766152,2	MCF-7	breast:
50	chr1:92346372..92348538-chr1:92370919..92373851,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHX4-2	chr1:92415457-92415856	NONHSAT004444
2	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004444
3	lnc-HFM1-3	chr1:92351587-92351708	NONHSAT004441
4	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004445
5	lnc-GLMN-2	chr1:92295333-92295631	NONHSAT004440
6	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004443
7	lnc-EPHX4-2	chr1:92414955-92415076	NONHSAT004444
8	lnc-BRDT-1	chr1:92404826-92405131	NONHSAT004442
9	lnc-EPHX4-2	chr1:92415457-92415859	NONHSAT004443
10	lnc-EPHX4-2	chr1:92414955-92415045	NONHSAT004443
11	lnc-HFM1-3	chr1:92329396-92329836	NONHSAT004441
12	lnc-EPHX4-2	chr1:92414960-92415076	NONHSAT004446
13	lnc-EPHX4-2	chr1:92415447-92415869	NONHSAT004446
14	lnc-EPHX4-2	chr1:92415447-92415889	NONHSAT004445
15	lnc-EPHX4-2	chr1:92414955-92415045	NONHSAT004445
16	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004446

No data

Variant related genes	Relation type
RN7SL653P	TF binding region
TGFBR3	TF binding region
BTBD8	TF binding region
SETSIP	TF binding region
LPCAT2BP	TF binding region
BRDT	TF binding region
EPHX4	TF binding region
GAPDHP46	TF binding region
RN7SL235P	TF binding region
PRKAR1AP	TF binding region
RN7SL653P	CpG island
TGFBR3	CpG island
BTBD8	CpG island
SETSIP	CpG island
LPCAT2BP	CpG island
BRDT	CpG island
EPHX4	CpG island
GAPDHP46	CpG island
RN7SL235P	CpG island
PRKAR1AP	CpG island
ENSG00000116830	chromatin interactions
ENSG00000239794	chromatin interactions
ENSG00000172031	chromatin interactions
ENSG00000189195	chromatin interactions
ENSG00000122484	chromatin interactions
ENSG00000069702	chromatin interactions
ENSG00000162669	chromatin interactions
ENSG00000097046	chromatin interactions
ENSG00000233228	chromatin interactions
ENSG00000174842	chromatin interactions

Extended variants
information (count: 11693 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:11693 , 50 per page) page: 1 2 3 4 5 6 7 ... 234

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12404952	chr1:92215725-92215726	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184848167	chr1:92215752-92215753	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540669509	chr1:92215754-92215755	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542526471	chr1:92215755-92215756	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77290205	chr1:92215766-92215767	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542107962	chr1:92215793-92215794	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79867848	chr1:92215811-92215812	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563912597	chr1:92215856-92215857	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530582770	chr1:92215901-92215902	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552319312	chr1:92215928-92215929	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72967104	chr1:92215929-92215930	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531754604	chr1:92215967-92215968	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528125530	chr1:92215991-92215992	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186898042	chr1:92216013-92216014	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191513604	chr1:92216108-92216109	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535743873	chr1:92216122-92216123	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550461579	chr1:92216215-92216216	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568725178	chr1:92216264-92216265	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184166584	chr1:92216296-92216297	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138642245	chr1:92216319-92216320	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149572807	chr1:92216353-92216354	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534737353	chr1:92216356-92216357	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143216146	chr1:92216498-92216499	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139145873	chr1:92216523-92216524	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542521017	chr1:92216527-92216528	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550828357	chr1:92216541-92216542	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189871876	chr1:92216575-92216576	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575936581	chr1:92216588-92216589	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369367820	chr1:92216647-92216648	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192524507	chr1:92216681-92216682	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545217855	chr1:92216682-92216683	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564206975	chr1:92216691-92216692	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185468089	chr1:92216692-92216693	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188892878	chr1:92216693-92216694	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564614333	chr1:92216709-92216710	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527412891	chr1:92216714-92216715	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181996168	chr1:92216811-92216812	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370674025	chr1:92216826-92216827	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550872762	chr1:92216827-92216828	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370208134	chr1:92216834-92216835	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568690395	chr1:92216850-92216851	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143081686	chr1:92216861-92216862	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552243490	chr1:92216915-92216916	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55884338	chr1:92216972-92216973	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535124384	chr1:92216973-92216974	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553054313	chr1:92217027-92217028	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376312928	chr1:92217036-92217037	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529660410	chr1:92217045-92217046	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550067269	chr1:92217049-92217050	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35271486	chr1:92217053-92217054	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6656 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:92199200-92218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:92199400-92219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:92201200-92219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:92201400-92217600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:92209200-92217000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:92211200-92215800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:92211200-92216000	Weak transcription	Aorta	Aorta
12	chr1:92211400-92215800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:92211600-92216200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
15	chr1:92212000-92216800	Weak transcription	Fetal Heart	heart
16	chr1:92212800-92215800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:92212800-92217600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:92213000-92216200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:92213000-92216600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:92213000-92218000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:92213000-92224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:92213400-92216400	Weak transcription	Fetal Lung	lung
23	chr1:92213600-92215800	Enhancers	Right Ventricle	heart
24	chr1:92213800-92215800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:92213800-92216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:92214000-92215800	Weak transcription	Fetal Stomach	stomach
28	chr1:92214200-92217600	Enhancers	Ovary	ovary
29	chr1:92214400-92216400	Enhancers	Spleen	Spleen
30	chr1:92214400-92221600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:92214800-92216400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:92214800-92216600	Enhancers	Psoas Muscle	Psoas
33	chr1:92214800-92216800	Enhancers	Right Atrium	heart
34	chr1:92214800-92217000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:92214800-92217000	Enhancers	Lung	lung
36	chr1:92214800-92217200	Enhancers	Left Ventricle	heart
37	chr1:92214800-92217800	Enhancers	Brain Substantia Nigra	brain
38	chr1:92214800-92218000	Enhancers	Liver	Liver
39	chr1:92214800-92218000	Enhancers	Brain Anterior Caudate	brain
40	chr1:92214800-92220200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:92215000-92216400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:92215000-92216400	Flanking Active TSS	Hela-S3	cervix
43	chr1:92215000-92218200	Enhancers	Colon Smooth Muscle	Colon
44	chr1:92215000-92218200	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:92215000-92218400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:92215200-92215800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:92215200-92215800	Enhancers	Placenta	Placenta
48	chr1:92215200-92217600	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:92215200-92217600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:92215200-92217800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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