Variant report

Variant	esv2750842
Chromosome Location	chr1:92356781-92579675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1666)
CpG islands
(count:2624)
Chromatin interactive
region (count:53)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1666 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:92545717-92545724	K562	blood:	n/a	n/a
2	ARID3A	chr1:92504254-92504757	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:92463047-92463494	K562	blood:	n/a	n/a
4	ARID3A	chr1:92424619-92424819	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:92545681-92545684	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:92392911-92393150	K562	blood:	n/a	n/a
7	ARID3A	chr1:92392821-92393186	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:92463265-92463529	HepG2	liver:	n/a	n/a
9	ATF1	chr1:92360017-92360202	K562	blood:	n/a	n/a
10	ATF1	chr1:92530637-92530857	K562	blood:	n/a	n/a
11	ATF3	chr1:92414808-92414936	K562	blood:	n/a	chr1:92414878-92414887 chr1:92414867-92414887
12	BACH1	chr1:92494875-92495995	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:92458760-92458932	K562	blood:	n/a	n/a
14	BCL3	chr1:92366001-92366544	A549	lung:	n/a	n/a
15	BCL3	chr1:92365986-92366640	A549	lung:	n/a	n/a
16	BHLHE40	chr1:92545583-92546606	K562	blood:	n/a	n/a
17	BHLHE40	chr1:92407219-92407552	K562	blood:	n/a	n/a
18	BHLHE40	chr1:92414729-92414870	K562	blood:	n/a	n/a
19	BRCA1	chr1:92548328-92548357	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:92366099-92366640	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:92495150-92495489	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr1:92379602-92379929	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr1:92551256-92551644	K562	blood:	n/a	n/a
24	CBX3	chr1:92551214-92551741	K562	blood:	n/a	n/a
25	CBX3	chr1:92551261-92551662	HCT-116	colon:	n/a	n/a
26	CBX3	chr1:92545636-92546410	K562	blood:	n/a	n/a
27	CBX3	chr1:92551278-92551743	HCT-116	colon:	n/a	n/a
28	CCNT2	chr1:92545770-92546292	K562	blood:	n/a	chr1:92545783-92545792
29	CEBPB	chr1:92356690-92357499	IMR90	lung:	n/a	chr1:92357209-92357220 chr1:92357209-92357218 chr1:92357207-92357218
30	CEBPB	chr1:92424460-92424951	MCF-7	breast:	n/a	chr1:92424646-92424655 chr1:92424645-92424656 chr1:92424644-92424655
31	CEBPB	chr1:92448101-92448201	K562	blood:	n/a	n/a
32	CEBPB	chr1:92398567-92398876	HepG2	liver:	n/a	chr1:92398709-92398720
33	CEBPB	chr1:92387092-92387094	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:92496162-92496469	IMR90	lung:	n/a	chr1:92496303-92496314
35	CEBPB	chr1:92366060-92366551	A549	lung:	n/a	chr1:92366247-92366258 chr1:92366245-92366256
36	CEBPB	chr1:92414369-92414701	A549	lung:	n/a	n/a
37	CEBPB	chr1:92380799-92381201	HepG2	liver:	n/a	chr1:92380948-92380959
38	CEBPB	chr1:92357068-92357390	A549	lung:	n/a	chr1:92357209-92357220 chr1:92357209-92357218 chr1:92357207-92357218
39	CEBPB	chr1:92359841-92360260	A549	lung:	n/a	n/a
40	CEBPB	chr1:92467135-92467242	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:92366064-92366442	HCT-116	colon:	n/a	chr1:92366247-92366258 chr1:92366245-92366256
42	CEBPB	chr1:92557103-92557548	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr1:92424460-92424909	MCF-7	breast:	n/a	chr1:92424646-92424655 chr1:92424645-92424656 chr1:92424644-92424655
44	CEBPB	chr1:92561627-92561711	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:92416711-92416895	K562	blood:	n/a	chr1:92416855-92416866 chr1:92416855-92416866 chr1:92416853-92416866 chr1:92416853-92416866
46	CEBPB	chr1:92504525-92504861	K562	blood:	n/a	chr1:92504690-92504701 chr1:92504689-92504700 chr1:92504689-92504702
47	CEBPB	chr1:92561467-92561769	A549	lung:	n/a	n/a
48	CEBPB	chr1:92456028-92456242	K562	blood:	n/a	chr1:92456098-92456109
49	CEBPB	chr1:92359968-92360284	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:92414365-92414690	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2624 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92491486-92491536	HRPEpiC	eye:	n/a
2	chr1:92491486-92491536	HRPEpiC	eye:	n/a
3	chr1:92415524-92415574	NH-A	brain:	n/a
4	chr1:92546470-92546520	NHDF-neo	bronchial:	n/a
5	chr1:92414722-92414772	NH-A	brain:	n/a
6	chr1:92415524-92415574	HNPCEpiC	eye:	n/a
7	chr1:92549234-92549284	ovcar-3	ovarian:	n/a
8	chr1:92415048-92415098	ovcar-3	ovarian:	n/a
9	chr1:92502933-92502983	GM19239	blood:	n/a
10	chr1:92545898-92545948	PrEC	prostate:	n/a
11	chr1:92549234-92549284	K562	blood:	n/a
12	chr1:92414221-92414271	GM06990	blood:	n/a
13	chr1:92549234-92549284	NHBE	bronchial:	n/a
14	chr1:92545888-92545938	SK-N-SH	brain:	n/a
15	chr1:92416676-92416726	ProgFib	skin:	n/a
16	chr1:92416676-92416726	AG04449	skin:	fetal
17	chr1:92545662-92545712	HAEpiC	amniotic membrane:	n/a
18	chr1:92414295-92414345	HL-60	blood:	n/a
19	chr1:92545580-92545630	GM12892	blood:	n/a
20	chr1:92495720-92495770	BE2_C	brain:	n/a
21	chr1:92414722-92414772	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:92414737-92414787	BJ	skin:	n/a
23	chr1:92545188-92545238	HMEC	breast:	n/a
24	chr1:92495004-92495054	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:92495818-92495868	HRPEpiC	eye:	n/a
26	chr1:92549234-92549284	HCM	heart:	n/a
27	chr1:92545580-92545630	BJ	skin:	n/a
28	chr1:92546135-92546185	SK-N-MC	brain:	n/a
29	chr1:92413007-92413057	SK-N-SH_RA	brain:	n/a
30	chr1:92545224-92545274	HCM	heart:	n/a
31	chr1:92545188-92545238	GM12878	blood:	n/a
32	chr1:92495818-92495868	GM12892	blood:	n/a
33	chr1:92414221-92414271	U87	brain:	n/a
34	chr1:92549234-92549284	GM12891	blood:	n/a
35	chr1:92549234-92549284	NH-A	brain:	n/a
36	chr1:92496160-92496210	HepG2	liver:	n/a
37	chr1:92494898-92494948	SK-N-SH_RA	brain:	n/a
38	chr1:92494997-92495047	GM19239	blood:	n/a
39	chr1:92546135-92546185	AG09309	skin:	n/a
40	chr1:92415048-92415098	PrEC	prostate:	n/a
41	chr1:92414221-92414271	SK-N-SH	brain:	n/a
42	chr1:92545888-92545938	BJ	skin:	n/a
43	chr1:92545662-92545712	T-47D	breast:	n/a
44	chr1:92495729-92495779	AG04449	skin:	fetal
45	chr1:92549234-92549284	HNPCEpiC	eye:	n/a
46	chr1:92416676-92416726	Hela-S3	cervix:	n/a
47	chr1:92495818-92495868	AG04449	skin:	fetal
48	chr1:92545650-92545700	AoSMC	blood vessel:	n/a
49	chr1:92494898-92494948	AG09309	skin:	n/a
50	chr1:92495877-92495927	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:92542913..92545844-chr1:92825979..92827706,2	K562	blood:
2	chr1:92202754..92203402-chr1:92392489..92393086,2	MCF-7	breast:
3	chr1:92529998..92532866-chr1:92545519..92547678,2	MCF-7	breast:
4	chr1:92354436..92357349-chr1:92361835..92364580,4	K562	blood:
5	chr1:92357381..92360848-chr1:92361441..92364289,5	K562	blood:
6	chr1:92494787..92497358-chr1:92544717..92548251,3	MCF-7	breast:
7	chr1:92506546..92509433-chr1:92514602..92517083,2	K562	blood:
8	chr1:92506546..92509433-chr1:92514602..92517083,2	K562	blood:
9	chr1:92359348..92361445-chr1:92361640..92364597,2	K562	blood:
10	chr1:92398059..92398985-chr1:92756667..92757204,2	MCF-7	breast:
11	chr1:92359622..92362110-chr1:92365556..92367175,2	K562	blood:
12	chr1:92493964..92495908-chr1:92496400..92499100,2	K562	blood:
13	chr1:91964010..91966765-chr1:92464590..92467417,2	K562	blood:
14	chr1:92411395..92413821-chr1:92420439..92422796,2	K562	blood:
15	chr1:92500741..92502488-chr1:92762793..92765174,2	MCF-7	breast:
16	chr1:92411395..92413821-chr1:92420439..92422796,2	K562	blood:
17	chr1:91976686..91977638-chr1:92392584..92393518,2	K562	blood:
18	chr1:92493964..92495908-chr1:92496400..92499100,2	K562	blood:
19	chr1:91978918..91979433-chr1:92392533..92393092,2	K562	blood:
20	chr1:92556197..92558083-chr1:92563000..92565811,2	MCF-7	breast:
21	chr1:92535153..92538093-chr1:92546590..92548474,2	K562	blood:
22	chr1:92531679..92534472-chr1:92536505..92538325,2	K562	blood:
23	chr1:92359622..92362110-chr1:92365556..92367175,2	K562	blood:
24	chr1:91994551..91996997-chr1:92385610..92388191,2	K562	blood:
25	chr1:92529291..92531947-chr1:92544374..92546080,2	K562	blood:
26	chr1:92359348..92361445-chr1:92361640..92364597,2	K562	blood:
27	chr1:92494787..92497358-chr1:92544717..92548251,3	MCF-7	breast:
28	chr1:92532650..92534894-chr1:92538818..92540475,2	K562	blood:
29	chr1:92357381..92360848-chr1:92361441..92364289,5	K562	blood:
30	chr1:92545812..92549091-chr1:92549918..92553923,4	K562	blood:
31	chr1:92082754..92083639-chr1:92392516..92393512,4	MCF-7	breast:
32	chr1:92519730..92522449-chr1:92522597..92525189,3	K562	blood:
33	chr1:92350409..92353610-chr1:92359343..92362400,3	K562	blood:
34	chr1:92544652..92546280-chr1:92558053..92559585,2	K562	blood:
35	chr1:92532650..92534894-chr1:92538818..92540475,2	K562	blood:
36	chr1:92519730..92522449-chr1:92522597..92525189,3	K562	blood:
37	chr1:91995716..91996502-chr1:92392369..92393018,2	MCF-7	breast:
38	chr1:91966132..91968252-chr1:92404869..92406833,2	K562	blood:
39	chr1:92529998..92532866-chr1:92545519..92547678,2	MCF-7	breast:
40	chr1:92494741..92496705-chr1:92764193..92766152,2	MCF-7	breast:
41	chr1:92463193..92463783-chr1:92756674..92757244,2	MCF-7	breast:
42	chr1:91869631..91870341-chr1:92392565..92393108,2	K562	blood:
43	chr1:92490161..92492607-chr1:92493368..92497617,3	K562	blood:
44	chr1:92529291..92531947-chr1:92544374..92546080,2	K562	blood:
45	chr1:92418160..92421480-chr1:92423319..92426988,3	K562	blood:
46	chr1:92348748..92351822-chr1:92353645..92358232,4	K562	blood:
47	chr1:92556197..92558083-chr1:92563000..92565811,2	MCF-7	breast:
48	chr1:92535153..92538093-chr1:92546590..92548474,2	K562	blood:
49	chr1:92415221..92417669-chr1:92420291..92422618,2	K562	blood:
50	chr1:92354436..92357349-chr1:92361835..92364580,4	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHX4-2	chr1:92415447-92415889	NONHSAT004445
2	lnc-EPHX4-2	chr1:92414960-92415076	NONHSAT004446
3	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004446
4	lnc-EPHX4-2	chr1:92414955-92415076	NONHSAT004444
5	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004443
6	lnc-EPHX4-2	chr1:92415457-92415859	NONHSAT004443
7	lnc-EPHX4-2	chr1:92415447-92415869	NONHSAT004446
8	lnc-BRDT-1	chr1:92404826-92405131	NONHSAT004442
9	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004445
10	lnc-EPHX4-2	chr1:92415457-92415856	NONHSAT004444
11	lnc-EPHX4-2	chr1:92414955-92415045	NONHSAT004443
12	lnc-EPHX4-2	chr1:92415195-92415239	NONHSAT004444
13	lnc-EPHX4-2	chr1:92414955-92415045	NONHSAT004445

No data

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

Extended variants
information (count: 5912 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:5912 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6604062	chr1:92356781-92356782	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368087351	chr1:92356809-92356810	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112659651	chr1:92356843-92356844	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532145679	chr1:92356852-92356853	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374122741	chr1:92356853-92356854	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554942786	chr1:92356915-92356916	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113672275	chr1:92356945-92356946	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367706108	chr1:92356971-92356972	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543664246	chr1:92356979-92356980	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565039389	chr1:92356980-92356981	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545865271	chr1:92357009-92357010	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532192630	chr1:92357010-92357011	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189088541	chr1:92357013-92357014	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191930215	chr1:92357014-92357015	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544740596	chr1:92357058-92357059	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112140951	chr1:92357059-92357060	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527728898	chr1:92357070-92357071	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75551003	chr1:92357071-92357072	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12080220	chr1:92357126-92357127	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138064040	chr1:92357145-92357146	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374505976	chr1:92357240-92357241	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182471374	chr1:92357268-92357269	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531853322	chr1:92357332-92357333	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71510740	chr1:92357342-92357343	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2996478	chr1:92357363-92357364	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538832724	chr1:92357368-92357369	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149354646	chr1:92357380-92357381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191883167	chr1:92357393-92357394	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115346160	chr1:92357394-92357395	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78454104	chr1:92357459-92357460	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548195449	chr1:92357517-92357518	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184219966	chr1:92357533-92357534	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113212557	chr1:92357553-92357554	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138193052	chr1:92357572-92357573	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577016638	chr1:92357618-92357619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201109676	chr1:92357690-92357691	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560647041	chr1:92357747-92357748	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550637645	chr1:92357878-92357879	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374103341	chr1:92357880-92357881	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572405115	chr1:92357895-92357896	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142887128	chr1:92358029-92358030	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12736904	chr1:92358035-92358036	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550543207	chr1:92358050-92358051	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6680463	chr1:92358186-92358187	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187805618	chr1:92358199-92358200	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550086440	chr1:92358243-92358244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35159580	chr1:92358324-92358325	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs6680614	chr1:92358371-92358372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs193166478	chr1:92358382-92358383	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558980864	chr1:92358405-92358406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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	21293372	CNVD

Chromatin state (count:1591 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92352400-92356800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:92352400-92356800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:92352400-92357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:92352400-92357400	Weak transcription	HSMMtube	muscle
5	chr1:92352400-92357400	Weak transcription	NH-A	brain
6	chr1:92352400-92357600	Weak transcription	Right Atrium	heart
7	chr1:92352400-92362600	Weak transcription	Psoas Muscle	Psoas
8	chr1:92352400-92366600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:92352600-92356800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:92352600-92356800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:92352600-92356800	Weak transcription	Fetal Stomach	stomach
12	chr1:92352600-92357000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:92352600-92357000	Weak transcription	HUVEC	blood vessel
14	chr1:92352600-92357200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:92352600-92357200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:92352600-92357200	Weak transcription	Fetal Kidney	kidney
17	chr1:92352600-92357400	Weak transcription	Liver	Liver
18	chr1:92352600-92357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:92352600-92357600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:92352600-92357600	Weak transcription	Spleen	Spleen
21	chr1:92352600-92362800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:92352600-92370600	Weak transcription	K562	blood
23	chr1:92352800-92356800	Weak transcription	Adipose Nuclei	Adipose
24	chr1:92352800-92357600	Weak transcription	Ovary	ovary
25	chr1:92353000-92357800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:92354000-92357200	Enhancers	Placenta	Placenta
27	chr1:92354400-92357400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:92355000-92357000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:92355200-92356800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:92355200-92357200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:92355200-92357200	Enhancers	GM12878-XiMat	blood
32	chr1:92355200-92357600	Enhancers	HepG2	liver
33	chr1:92355200-92358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:92355200-92358200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:92355400-92358200	Enhancers	NHDF-Ad	bronchial
36	chr1:92355600-92356800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:92355600-92356800	Weak transcription	Fetal Lung	lung
38	chr1:92355600-92357400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:92355800-92356800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:92355800-92357200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:92355800-92357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:92355800-92357200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:92355800-92357200	Enhancers	A549	lung
44	chr1:92355800-92357400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:92355800-92357600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:92355800-92357600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:92355800-92357600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:92356000-92357000	Enhancers	Esophagus	oesophagus
49	chr1:92356000-92357200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:92356200-92357200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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