Variant report

Variant	esv1829371
Chromosome Location	chr1:46466373-46504466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:46502610-46503204	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:46502605-46503140	GM12878	blood:	n/a	n/a
3	ATF2	chr1:46502647-46503150	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr1:46502496-46503246	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:46502610-46503225	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:46502750-46503067	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:46502638-46503047	K562	blood:	n/a	n/a
8	CEBPB	chr1:46485082-46485419	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:46468981-46469416	HepG2	liver:	n/a	chr1:46469195-46469206
10	CEBPB	chr1:46469042-46469334	K562	blood:	n/a	chr1:46469195-46469206
11	CEBPB	chr1:46469009-46469276	HepG2	liver:	n/a	chr1:46469195-46469206
12	CEBPB	chr1:46469014-46469394	HepG2	liver:	n/a	chr1:46469195-46469206
13	CEBPB	chr1:46469043-46469248	IMR90	lung:	n/a	chr1:46469195-46469206
14	CEBPB	chr1:46468963-46469363	HepG2	liver:	n/a	chr1:46469195-46469206
15	CEBPB	chr1:46469005-46469300	K562	blood:	n/a	chr1:46469195-46469206
16	CEBPB	chr1:46502789-46503045	GM12878	blood:	n/a	n/a
17	CEBPB	chr1:46469063-46469332	A549	lung:	n/a	chr1:46469195-46469206
18	CEBPB	chr1:46469044-46469312	Hela-S3	cervix:	n/a	chr1:46469195-46469206
19	CEBPD	chr1:46502659-46503643	K562	blood:	n/a	n/a
20	CEBPD	chr1:46468961-46469353	HepG2	liver:	n/a	n/a
21	CEBPD	chr1:46502874-46503135	HepG2	liver:	n/a	n/a
22	CEBPD	chr1:46468983-46469301	HepG2	liver:	n/a	n/a
23	CHD2	chr1:46502713-46503054	GM12878	blood:	n/a	n/a
24	CHD2	chr1:46502697-46503152	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr1:46502665-46503547	K562	blood:	n/a	n/a
26	CHD2	chr1:46502684-46502963	HepG2	liver:	n/a	n/a
27	CTCF	chr1:46502677-46502679	GM19240	blood:	n/a	n/a
28	CTCF	chr1:46502820-46502970	HAc	cerebellar:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
29	CTCF	chr1:46502800-46502950	AG04450	lung:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
30	CTCF	chr1:46502742-46503028	ProgFib	skin:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
31	CTCF	chr1:46502820-46502970	RPTEC	kidney:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
32	CTCF	chr1:46487240-46487390	HRE	kidney:	n/a	n/a
33	CTCF	chr1:46502840-46502990	SK-N-SH_RA	brain:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
34	CTCF	chr1:46501760-46501910	HAc	cerebellar:	n/a	n/a
35	CTCF	chr1:46483600-46483750	GM12878	blood:	n/a	n/a
36	CTCF	chr1:46502820-46502970	GM12868	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
37	CTCF	chr1:46502840-46502990	GM12874	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
38	CTCF	chr1:46466900-46467050	K562	blood:	n/a	chr1:46467004-46467017 chr1:46467002-46467020
39	CTCF	chr1:46500620-46500770	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr1:46502712-46503053	NHEK	skin:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
41	CTCF	chr1:46487279-46487333	GM19240	blood:	n/a	n/a
42	CTCF	chr1:46502840-46502990	HRPEpiC	eye:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
43	CTCF	chr1:46502840-46502990	K562	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
44	CTCF	chr1:46502585-46503071	GM12891	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
45	CTCF	chr1:46502800-46502950	NHDF-neo	bronchial:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
46	CTCF	chr1:46502880-46503030	GM12866	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
47	CTCF	chr1:46502820-46502970	HepG2	liver:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
48	CTCF	chr1:46466940-46467090	NHDF-neo	bronchial:	n/a	chr1:46467004-46467017 chr1:46467002-46467020
49	CTCF	chr1:46502840-46502990	GM12873	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
50	CTCF	chr1:46501900-46502050	WI-38	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46485352-46485402	AG09319	gingival:	n/a
2	chr1:46502608-46502658	HepG2	liver:	n/a
3	chr1:46502608-46502658	HEK293	kidney:	embryo
4	chr1:46485352-46485402	NHBE	bronchial:	n/a
5	chr1:46485352-46485402	HMEC	breast:	n/a
6	chr1:46485352-46485402	AG09309	skin:	n/a
7	chr1:46502608-46502658	Jurkat	blood:	n/a
8	chr1:46502608-46502658	HCT-116	colon:	n/a
9	chr1:46502608-46502658	NT2-D1	testis:	n/a
10	chr1:46502608-46502658	HCF	heart:	n/a
11	chr1:46502608-46502658	NHBE	bronchial:	n/a
12	chr1:46485352-46485402	HRE	kidney:	n/a
13	chr1:46485352-46485402	PrEC	prostate:	n/a
14	chr1:46485352-46485402	AG04449	skin:	fetal
15	chr1:46485352-46485402	PFSK-1	brain:	n/a
16	chr1:46502608-46502658	GM12878	blood:	n/a
17	chr1:46485352-46485402	GM12892	blood:	n/a
18	chr1:46485352-46485402	LNCaP	prostate:	n/a
19	chr1:46502608-46502658	Hepatocyte	liver:	n/a
20	chr1:46502608-46502658	AG09319	gingival:	n/a
21	chr1:46502608-46502658	RPTEC	kidney:	n/a
22	chr1:46502608-46502658	HL-60	blood:	n/a
23	chr1:46502608-46502658	H1-hESC	embryonic stem cell:	embryo
24	chr1:46485352-46485402	GM19239	blood:	n/a
25	chr1:46485352-46485402	SKMC	muscle:	n/a
26	chr1:46485352-46485402	T-47D	breast:	n/a
27	chr1:46485352-46485402	HEEpiC	esophagus:	n/a
28	chr1:46502608-46502658	AG04450	lung:	fetal
29	chr1:46502608-46502658	SAEC	small airway:	n/a
30	chr1:46485352-46485402	SK-N-SH_RA	brain:	n/a
31	chr1:46485352-46485402	ProgFib	skin:	n/a
32	chr1:46502608-46502658	ProgFib	skin:	n/a
33	chr1:46502608-46502658	GM12892	blood:	n/a
34	chr1:46502608-46502658	MCF10A-Er-Src	breast:	n/a
35	chr1:46502608-46502658	HRPEpiC	eye:	n/a
36	chr1:46485352-46485402	BJ	skin:	n/a
37	chr1:46502608-46502658	BE2_C	brain:	n/a
38	chr1:46502608-46502658	NB4	blood:	n/a
39	chr1:46485352-46485402	HCPEpiC	choroid plexus:	n/a
40	chr1:46485352-46485402	HepG2	liver:	n/a
41	chr1:46485352-46485402	SK-N-MC	brain:	n/a
42	chr1:46485352-46485402	HNPCEpiC	eye:	n/a
43	chr1:46485352-46485402	HCM	heart:	n/a
44	chr1:46485352-46485402	GM12891	blood:	n/a
45	chr1:46485352-46485402	Caco-2	colon:	n/a
46	chr1:46485352-46485402	GM12878	blood:	n/a
47	chr1:46502608-46502658	CMK	blood:	n/a
48	chr1:46485352-46485402	Hela-S3	cervix:	n/a
49	chr1:46485352-46485402	HCF	heart:	n/a
50	chr1:46502608-46502658	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46486434..46490068-chr1:46491695..46494942,4	K562	blood:
2	chr1:46496210..46497962-chr1:46596487..46598924,2	MCF-7	breast:
3	chr1:46152249..46154389-chr1:46489050..46491985,2	K562	blood:
4	chr1:46501987..46504531-chr1:46644237..46646306,43	K562	blood:
5	chr1:46501490..46502010-chr1:46688870..46689796,2	K562	blood:
6	chr1:46502105..46504084-chr1:46528170..46530129,2	K562	blood:
7	chr1:46483034..46485890-chr1:46486254..46490637,7	K562	blood:
8	chr1:46501257..46504423-chr1:46594631..46599309,4	MCF-7	breast:
9	chr1:46502496..46503477-chr1:46663439..46664734,4	K562	blood:
10	chr1:46463535..46467155-chr1:46470978..46473391,3	K562	blood:
11	chr1:46502151..46503328-chr1:46688941..46690179,5	K562	blood:
12	chr1:46502476..46504695-chr1:46767882..46770571,2	K562	blood:
13	chr1:46486434..46490068-chr1:46491695..46494942,4	K562	blood:
14	chr1:46467498..46470215-chr1:46486949..46488855,2	K562	blood:
15	chr1:46502035..46504255-chr1:46662505..46664043,2	K562	blood:
16	chr1:46470355..46473674-chr1:46477475..46480255,3	K562	blood:
17	chr1:46467498..46470215-chr1:46486949..46488855,2	K562	blood:
18	chr1:46470355..46473674-chr1:46477475..46480255,3	K562	blood:
19	chr1:46502978..46504881-chr1:46688059..46689994,2	K562	blood:
20	chr1:46461020..46463343-chr1:46476267..46478373,2	K562	blood:
21	chr1:46484546..46487489-chr1:46603817..46605793,2	K562	blood:
22	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
23	chr1:46464725..46466384-chr1:46509331..46511919,2	K562	blood:
24	chr1:46486510..46488331-chr1:46488785..46491782,2	MCF-7	breast:
25	chr1:46501329..46503162-chr1:46604855..46606915,2	K562	blood:
26	chr1:46498806..46500907-chr1:46597285..46600123,2	MCF-7	breast:
27	chr1:46502035..46506029-chr1:46661019..46664447,3	K562	blood:
28	chr1:46490576..46492330-chr1:46559869..46561402,2	K562	blood:
29	chr1:46498325..46500159-chr1:46595927..46599001,3	K562	blood:
30	chr1:46502426..46503494-chr1:46644975..46645543,3	MCF-7	breast:
31	chr1:46500117..46505906-chr1:46642218..46647717,9	K562	blood:
32	chr1:46502253..46502993-chr1:46638861..46639852,3	K562	blood:
33	chr1:46463535..46467155-chr1:46470978..46473391,3	K562	blood:
34	chr1:46501521..46503992-chr1:46598593..46600286,2	K562	blood:
35	chr1:46500927..46503041-chr1:46594569..46596961,2	MCF-7	breast:
36	chr1:46502781..46503507-chr1:46643468..46644085,2	K562	blood:
37	chr1:46493789..46494398-chr1:46502594..46503341,2	K562	blood:
38	chr1:46466152..46468526-chr1:46469622..46471885,2	MCF-7	breast:
39	chr1:46499846..46501821-chr1:46501905..46505233,3	K562	blood:
40	chr1:46493789..46494398-chr1:46502594..46503341,2	K562	blood:
41	chr1:46496781..46499217-chr1:46640648..46642564,2	K562	blood:
42	chr1:46488776..46491318-chr1:46492009..46494441,2	K562	blood:
43	chr1:46490032..46491762-chr1:46646589..46649571,2	K562	blood:
44	chr1:46443303..46445245-chr1:46465936..46468453,2	MCF-7	breast:
45	chr1:46499846..46501821-chr1:46501905..46505233,3	K562	blood:
46	chr1:46501151..46503873-chr1:46689820..46692443,2	MCF-7	breast:
47	chr1:46501344..46502975-chr1:46637425..46639494,2	MCF-7	breast:
48	chr1:46501684..46503933-chr1:46638611..46640285,2	K562	blood:
49	chr1:46216147..46217963-chr1:46486997..46489050,2	MCF-7	breast:
50	chr1:46465466..46467155-chr1:46470978..46473043,2	K562	blood:

Variant related genes	Relation type
MAST2	TF binding region
MAST2	CpG island
ENSG00000159596	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000117472	chromatin interactions
ENSG00000086015	chromatin interactions
ENSG00000173660	chromatin interactions
ENSG00000085998	chromatin interactions
ENSG00000132128	chromatin interactions
ENSG00000250719	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000227857	chromatin interactions
ENSG00000117461	chromatin interactions

Extended variants
information (count: 1448 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1448 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11579634	chr1:46466391-46466392	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542564109	chr1:46466409-46466410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183441104	chr1:46466449-46466450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528155671	chr1:46466500-46466501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144890129	chr1:46466504-46466505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367576077	chr1:46466535-46466536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147075779	chr1:46466624-46466625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376923584	chr1:46466627-46466628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11589562	chr1:46466721-46466722	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188945960	chr1:46466768-46466769	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568858447	chr1:46466816-46466817	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544006021	chr1:46466901-46466902	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529947447	chr1:46466942-46466943	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs375398468	chr1:46467010-46467011	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs554386240	chr1:46467022-46467023	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566765496	chr1:46467069-46467070	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147541195	chr1:46467085-46467086	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139424012	chr1:46467123-46467124	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs149873977	chr1:46467171-46467172	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539984010	chr1:46467198-46467199	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs193117133	chr1:46467247-46467248	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556801674	chr1:46467262-46467263	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113284397	chr1:46467273-46467274	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373508761	chr1:46467285-46467286	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs60513958	chr1:46467299-46467300	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535790726	chr1:46467317-46467318	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs554537989	chr1:46467355-46467356	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572779649	chr1:46467460-46467461	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34474624	chr1:46467471-46467472	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376066023	chr1:46467475-46467476	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185835920	chr1:46467487-46467488	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564678656	chr1:46467611-46467612	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186586303	chr1:46467660-46467661	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191474567	chr1:46467671-46467672	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183944011	chr1:46467707-46467708	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529963886	chr1:46467717-46467718	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548207660	chr1:46467733-46467734	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74806973	chr1:46467753-46467754	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574102148	chr1:46467777-46467778	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552704988	chr1:46467933-46467934	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76777113	chr1:46467945-46467946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143880185	chr1:46467964-46467965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188575463	chr1:46468036-46468037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538354637	chr1:46468061-46468062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs193011977	chr1:46468101-46468102	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373845349	chr1:46468103-46468104	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185246229	chr1:46468133-46468134	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554203788	chr1:46468137-46468138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572786676	chr1:46468164-46468165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549389941	chr1:46468215-46468216	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Neuroblastoma	21899760	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46436200-46468800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:46438200-46471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:46438600-46468600	Weak transcription	Fetal Brain Female	brain
4	chr1:46441400-46467200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:46445600-46467800	Weak transcription	Colonic Mucosa	Colon
6	chr1:46445600-46472000	Weak transcription	A549	lung
7	chr1:46445600-46475600	Weak transcription	Stomach Mucosa	stomach
8	chr1:46447200-46468400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:46448400-46472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:46448800-46470400	Weak transcription	Fetal Lung	lung
11	chr1:46450400-46468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:46453600-46472000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:46454000-46466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:46455000-46471600	Weak transcription	Lung	lung
15	chr1:46455400-46471200	Weak transcription	Aorta	Aorta
16	chr1:46456600-46466600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:46457000-46466600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:46457000-46472800	Weak transcription	Small Intestine	intestine
19	chr1:46457800-46468400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:46458600-46471400	Weak transcription	Primary B cells from cord blood	blood
21	chr1:46459800-46471000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:46460400-46466600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:46460400-46471800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:46461000-46474000	Weak transcription	NH-A	brain
25	chr1:46461400-46488000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:46461600-46471600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:46461800-46471800	Weak transcription	Ovary	ovary
28	chr1:46461800-46474000	Weak transcription	Thymus	Thymus
29	chr1:46462000-46472000	Weak transcription	HUVEC	blood vessel
30	chr1:46462200-46471800	Weak transcription	NHDF-Ad	bronchial
31	chr1:46462400-46471400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:46462800-46469200	Weak transcription	Placenta	Placenta
33	chr1:46463000-46471200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:46463000-46473000	Weak transcription	GM12878-XiMat	blood
35	chr1:46463200-46469200	Strong transcription	HSMM	muscle
36	chr1:46463200-46471800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:46463200-46473200	Weak transcription	Right Atrium	heart
38	chr1:46463400-46467000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:46463600-46471400	Weak transcription	Osteobl	bone
40	chr1:46463600-46471800	Weak transcription	Adipose Nuclei	Adipose
41	chr1:46463600-46471800	Weak transcription	Gastric	stomach
42	chr1:46463800-46471600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:46463800-46473600	Weak transcription	NHEK	skin
44	chr1:46464000-46466800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:46464000-46469400	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:46464000-46472000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:46464000-46472800	Weak transcription	Psoas Muscle	Psoas
48	chr1:46464200-46466600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:46464200-46467000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:46464200-46467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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