Variant report

Variant	nsv545403
Chromosome Location	chr1:10709441-10750432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:510)
CpG islands
(count:4157)
Chromatin interactive
region (count:73)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:10739699-10740090	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:10739738-10739938	K562	blood:	n/a	n/a
3	ARID3A	chr1:10746020-10747010	HepG2	liver:	n/a	n/a
4	ATF2	chr1:10739666-10740097	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:10739634-10740012	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:10711894-10712078	K562	blood:	n/a	n/a
7	BACH1	chr1:10710049-10710152	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr1:10722391-10722933	GM12878	blood:	n/a	n/a
9	BCL3	chr1:10722400-10722952	GM12878	blood:	n/a	n/a
10	BCL3	chr1:10711104-10711370	GM12878	blood:	n/a	n/a
11	BCL3	chr1:10711172-10711384	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:10739818-10739897	K562	blood:	n/a	n/a
13	BHLHE40	chr1:10745723-10746597	HepG2	liver:	n/a	chr1:10745933-10745942 chr1:10745934-10745943 chr1:10746013-10746029 chr1:10745934-10745943 chr1:10745935-10745944
14	BHLHE40	chr1:10722323-10722716	K562	blood:	n/a	n/a
15	BHLHE40	chr1:10745752-10746071	K562	blood:	n/a	chr1:10745933-10745942 chr1:10745934-10745943 chr1:10746013-10746029 chr1:10745934-10745943 chr1:10745935-10745944
16	BRCA1	chr1:10737875-10737890	HepG2	liver:	n/a	n/a
17	CBX3	chr1:10739625-10740024	K562	blood:	n/a	n/a
18	CEBPB	chr1:10739719-10739976	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:10739750-10739932	K562	blood:	n/a	n/a
20	CEBPB	chr1:10746636-10747091	HepG2	liver:	n/a	chr1:10746910-10746923
21	CEBPB	chr1:10739707-10739926	K562	blood:	n/a	n/a
22	CEBPB	chr1:10737782-10737942	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr1:10711206-10711315	HepG2	liver:	n/a	n/a
24	CEBPD	chr1:10745991-10746333	HepG2	liver:	n/a	n/a
25	CHD2	chr1:10739793-10739993	HepG2	liver:	n/a	n/a
26	CHD2	chr1:10746764-10746893	K562	blood:	n/a	n/a
27	CHD2	chr1:10746469-10747098	HepG2	liver:	n/a	n/a
28	CHD2	chr1:10744588-10744881	K562	blood:	n/a	n/a
29	CREB1	chr1:10739587-10740043	HepG2	liver:	n/a	n/a
30	CREB1	chr1:10739569-10740154	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr1:10739595-10740096	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr1:10738480-10738630	WERI-Rb-1	eye:	n/a	chr1:10738550-10738563
33	CTCF	chr1:10746620-10746690	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:10746800-10746950	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:10746800-10746950	BJ	skin:	n/a	n/a
36	CTCF	chr1:10739400-10739550	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr1:10746900-10747050	K562	blood:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
38	CTCF	chr1:10746480-10746630	HepG2	liver:	n/a	n/a
39	CTCF	chr1:10721656-10721694	Lung_OC	lung:	n/a	n/a
40	CTCF	chr1:10746901-10747021	MCF-7	breast:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
41	CTCF	chr1:10746859-10747076	MCF-7	breast:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
42	CTCF	chr1:10722357-10722415	GM19239	blood:	n/a	n/a
43	CTCF	chr1:10747361-10747415	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:10737618-10737665	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:10746900-10747050	WERI-Rb-1	eye:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
46	CTCF	chr1:10746820-10746970	HBMEC	blood vessel:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
47	CTCF	chr1:10746860-10747010	HepG2	liver:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
48	CTCF	chr1:10746930-10747020	MCF-7	breast:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
49	CTCF	chr1:10746899-10747032	HepG2	liver:	n/a	chr1:10746953-10746966 chr1:10746951-10746969
50	CTCF	chr1:10746960-10747110	HEK293	kidney:	n/a	n/a

(count:4157 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10709702-10709752	NHDF-neo	bronchial:	n/a
2	chr1:10720993-10721043	H1-hESC	embryonic stem cell:	embryo
3	chr1:10718221-10718271	AG10803	skin:	n/a
4	chr1:10710847-10710897	SK-N-SH_RA	brain:	n/a
5	chr1:10732872-10732922	RPTEC	kidney:	n/a
6	chr1:10714160-10714210	HCPEpiC	choroid plexus:	n/a
7	chr1:10732744-10732794	GM12891	blood:	n/a
8	chr1:10738569-10738619	Hela-S3	cervix:	n/a
9	chr1:10732464-10732514	ECC-1	luminal epithelium:	n/a
10	chr1:10709702-10709752	NHDF-neo	bronchial:	n/a
11	chr1:10720993-10721043	H1-hESC	embryonic stem cell:	embryo
12	chr1:10718221-10718271	AG10803	skin:	n/a
13	chr1:10710847-10710897	SK-N-SH_RA	brain:	n/a
14	chr1:10732872-10732922	RPTEC	kidney:	n/a
15	chr1:10714160-10714210	HCPEpiC	choroid plexus:	n/a
16	chr1:10732744-10732794	GM12891	blood:	n/a
17	chr1:10738569-10738619	Hela-S3	cervix:	n/a
18	chr1:10732464-10732514	ECC-1	luminal epithelium:	n/a
19	chr1:10730684-10730734	HRCEpiC	kidney:	n/a
20	chr1:10710847-10710897	AoSMC	blood vessel:	n/a
21	chr1:10732519-10732569	BJ	skin:	n/a
22	chr1:10709702-10709752	SAEC	small airway:	n/a
23	chr1:10712967-10713017	AG10803	skin:	n/a
24	chr1:10720368-10720418	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:10726728-10726778	PrEC	prostate:	n/a
26	chr1:10743216-10743266	GM19239	blood:	n/a
27	chr1:10733477-10733527	NT2-D1	testis:	n/a
28	chr1:10711044-10711094	LNCaP	prostate:	n/a
29	chr1:10720269-10720319	LNCaP	prostate:	n/a
30	chr1:10733030-10733080	GM12891	blood:	n/a
31	chr1:10725237-10725287	Hela-S3	cervix:	n/a
32	chr1:10720993-10721043	AG04449	skin:	fetal
33	chr1:10733511-10733561	BE2_C	brain:	n/a
34	chr1:10719619-10719669	BJ	skin:	n/a
35	chr1:10733030-10733080	A549	lung:	n/a
36	chr1:10725571-10725621	HNPCEpiC	eye:	n/a
37	chr1:10725218-10725268	CMK	blood:	n/a
38	chr1:10711457-10711507	PFSK-1	brain:	n/a
39	chr1:10732519-10732569	HCT-116	colon:	n/a
40	chr1:10709702-10709752	SK-N-SH_RA	brain:	n/a
41	chr1:10723630-10723680	NHBE	bronchial:	n/a
42	chr1:10714469-10714519	ProgFib	skin:	n/a
43	chr1:10733030-10733080	MCF-7	breast:	n/a
44	chr1:10712421-10712471	NHBE	bronchial:	n/a
45	chr1:10720368-10720418	HEK293	kidney:	embryo
46	chr1:10732558-10732608	HRE	kidney:	n/a
47	chr1:10732900-10732950	GM12892	blood:	n/a
48	chr1:10725332-10725382	GM12892	blood:	n/a
49	chr1:10732063-10732113	HRE	kidney:	n/a
50	chr1:10725218-10725268	BE2_C	brain:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:10725635..10727609-chr1:10737981..10739512,2	K562	blood:
2	chr1:10750259..10753196-chr1:10853460..10855878,3	MCF-7	breast:
3	chr1:10735100..10736602-chr1:10738947..10741483,2	MCF-7	breast:
4	chr1:10732310..10734082-chr1:10748973..10751556,2	K562	blood:
5	chr1:10733440..10737843-chr1:10738072..10740756,3	K562	blood:
6	chr1:10709257..10711552-chr1:10722180..10724225,2	K562	blood:
7	chr1:10744767..10747551-chr1:10752646..10758510,5	K562	blood:
8	chr1:10717594..10722225-chr1:10722686..10725044,4	K562	blood:
9	chr1:10708228..10710600-chr1:10848696..10851530,2	K562	blood:
10	chr1:10738788..10740418-chr1:10744263..10746556,2	MCF-7	breast:
11	chr1:10746225..10747873-chr1:10749821..10751374,2	K562	blood:
12	chr1:10728805..10730887-chr1:10732213..10735865,3	MCF-7	breast:
13	chr1:10738789..10740392-chr1:10741913..10744233,2	MCF-7	breast:
14	chr1:10738414..10740371-chr1:10749837..10752208,2	MCF-7	breast:
15	chr1:10732310..10734082-chr1:10748973..10751556,2	K562	blood:
16	chr1:10573337..10575488-chr1:10723481..10725688,2	K562	blood:
17	chr1:10716711..10719662-chr1:10722945..10725596,2	MCF-7	breast:
18	chr1:10728805..10730887-chr1:10732213..10735865,3	MCF-7	breast:
19	chr1:10739929..10741898-chr1:10854079..10856532,2	MCF-7	breast:
20	chr1:10731829..10734631-chr1:10737455..10739630,2	K562	blood:
21	chr1:10715958..10718705-chr1:10751486..10753340,2	K562	blood:
22	chr1:10739997..10741906-chr1:10786836..10789661,2	MCF-7	breast:
23	chr1:10733440..10737843-chr1:10738072..10740756,3	K562	blood:
24	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
25	chr1:10722706..10724721-chr1:10733970..10736738,2	MCF-7	breast:
26	chr1:10746278..10748730-chr1:10764916..10766801,2	K562	blood:
27	chr1:10703902..10706642-chr1:10707587..10709773,5	K562	blood:
28	chr1:10736438..10738952-chr1:10740834..10743683,3	K562	blood:
29	chr1:10730026..10731880-chr1:10732441..10734858,2	MCF-7	breast:
30	chr1:10733635..10735480-chr1:10745613..10747198,2	K562	blood:
31	chr1:10712004..10714801-chr1:10852157..10855382,3	MCF-7	breast:
32	chr1:10659595..10662178-chr1:10730395..10732793,2	MCF-7	breast:
33	chr1:10731586..10734308-chr1:10735752..10737991,2	MCF-7	breast:
34	chr1:10689513..10692457-chr1:10716597..10719078,2	K562	blood:
35	chr1:10717765..10719511-chr1:10863932..10866703,2	K562	blood:
36	chr1:10731586..10734308-chr1:10735752..10737991,2	MCF-7	breast:
37	chr1:10738414..10740371-chr1:10749837..10752208,2	MCF-7	breast:
38	chr1:10749491..10752032-chr1:10752294..10754052,2	K562	blood:
39	chr1:10738789..10740392-chr1:10741913..10744233,2	MCF-7	breast:
40	chr1:10725635..10727609-chr1:10737981..10739512,2	K562	blood:
41	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
42	chr1:10730915..10733198-chr1:10740298..10742012,2	K562	blood:
43	chr1:10746225..10747873-chr1:10749821..10751374,2	K562	blood:
44	chr1:10730026..10731880-chr1:10732441..10734858,2	MCF-7	breast:
45	chr1:10735100..10736602-chr1:10738947..10741483,2	MCF-7	breast:
46	chr1:10711257..10713486-chr1:10721428..10724018,2	MCF-7	breast:
47	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
48	chr1:10742297..10745036-chr1:10749705..10751341,3	MCF-7	breast:
49	chr1:10703574..10707168-chr1:10709558..10711927,3	MCF-7	breast:
50	chr1:10685463..10687143-chr1:10735500..10738364,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DFFA-7	chr1:10717708-10718008	uc_6_-
2	lnc-DFFA-6	chr1:10710541-10710812	NONHSAT000867
3	lnc-PEX14-6	chr1:10717708-10718008	uc_6_+
4	lnc-DFFA-6	chr1:10710998-10711157	NONHSAT000867

No data

Variant related genes	Relation type
CASZ1	TF binding region
CASZ1	CpG island
ENSG00000130940	chromatin interactions

Extended variants
information (count: 1936 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs284299	chr1:10709441-10709442	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551939247	chr1:10709443-10709444	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186784514	chr1:10709447-10709448	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138289719	chr1:10709453-10709454	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143439959	chr1:10709466-10709467	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117081280	chr1:10709469-10709470	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs60148005	chr1:10709499-10709500	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535451254	chr1:10709501-10709502	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115251045	chr1:10709513-10709514	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566866337	chr1:10709518-10709519	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575392164	chr1:10709528-10709529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376006928	chr1:10709555-10709556	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559190270	chr1:10709578-10709579	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577370780	chr1:10709609-10709610	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541321485	chr1:10709625-10709626	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560011291	chr1:10709696-10709697	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530013910	chr1:10709703-10709704	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190298163	chr1:10709716-10709717	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563377408	chr1:10709734-10709735	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540130866	chr1:10709738-10709739	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143834230	chr1:10709760-10709761	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552302420	chr1:10709761-10709762	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs34865087	chr1:10709798-10709799	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570267616	chr1:10709799-10709800	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528300581	chr1:10709859-10709860	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546546547	chr1:10709865-10709866	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534232943	chr1:10709885-10709886	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568321132	chr1:10709892-10709893	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535415876	chr1:10709904-10709905	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556985183	chr1:10709963-10709964	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568916204	chr1:10709973-10709974	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539491840	chr1:10709978-10709979	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558779074	chr1:10709982-10709983	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570135888	chr1:10709986-10709987	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114758186	chr1:10710002-10710003	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75711411	chr1:10710100-10710101	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553319872	chr1:10710141-10710142	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575061918	chr1:10710166-10710167	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574429311	chr1:10710171-10710172	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377114369	chr1:10710177-10710178	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542159033	chr1:10710185-10710186	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563340184	chr1:10710196-10710197	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530819587	chr1:10710213-10710214	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545854588	chr1:10710228-10710229	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs284298	chr1:10710255-10710256	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528248209	chr1:10710311-10710312	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546756459	chr1:10710326-10710327	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561771086	chr1:10710395-10710396	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529016008	chr1:10710429-10710430	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373925957	chr1:10710447-10710448	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1441 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:10697400-10722000	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:10698200-10713600	Weak transcription	Small Intestine	intestine
4	chr1:10698800-10726400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:10698800-10752000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:10699000-10712400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:10699000-10713600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:10699000-10714000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:10699000-10723000	Weak transcription	Psoas Muscle	Psoas
10	chr1:10699400-10709600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:10699400-10709800	Strong transcription	Colonic Mucosa	Colon
12	chr1:10700400-10722800	Weak transcription	Ovary	ovary
13	chr1:10701600-10709800	Strong transcription	Pancreas	Pancrea
14	chr1:10702200-10709800	Strong transcription	Fetal Intestine Large	intestine
15	chr1:10702600-10721600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:10703400-10711800	Weak transcription	Fetal Heart	heart
17	chr1:10704400-10720400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:10705200-10710600	Weak transcription	Placenta	Placenta
19	chr1:10705200-10714000	Weak transcription	HSMMtube	muscle
20	chr1:10705400-10712600	Weak transcription	Liver	Liver
21	chr1:10705400-10725800	Weak transcription	HMEC	breast
22	chr1:10706200-10715400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:10706400-10711600	Weak transcription	Thymus	Thymus
24	chr1:10706400-10712600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:10706400-10713000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:10706400-10713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:10706400-10724000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:10706600-10719200	Weak transcription	Primary B cells from cord blood	blood
29	chr1:10706600-10723200	Weak transcription	Right Atrium	heart
30	chr1:10707000-10709800	Strong transcription	Spleen	Spleen
31	chr1:10707000-10712800	Strong transcription	Right Ventricle	heart
32	chr1:10707400-10712400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr1:10707800-10709800	Strong transcription	Lung	lung
34	chr1:10707800-10710000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:10707800-10712000	Strong transcription	Gastric	stomach
36	chr1:10707800-10712800	Weak transcription	Dnd41	blood
37	chr1:10707800-10731200	Weak transcription	NHEK	skin
38	chr1:10708000-10709600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:10708000-10712400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:10708000-10719200	Weak transcription	Stomach Mucosa	stomach
41	chr1:10708200-10709800	Strong transcription	Esophagus	oesophagus
42	chr1:10708200-10713000	Weak transcription	Aorta	Aorta
43	chr1:10708200-10713200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:10708400-10718400	Weak transcription	Primary T cells from cord blood	blood
45	chr1:10708600-10709600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:10708600-10709600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:10708600-10710000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr1:10708600-10710200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr1:10708600-10712600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:10708800-10709600	Enhancers	Colon Smooth Muscle	Colon

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