Variant report

Variant	nsv1008300
Chromosome Location	chr1:241886514-242171611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3740)
CpG islands
(count:2626)
Chromatin interactive
region (count:323)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3740 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:242079607-242079807	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:242139649-242139760	K562	blood:	n/a	n/a
3	ARID3A	chr1:242149175-242149484	K562	blood:	n/a	n/a
4	ARID3A	chr1:241897828-241898364	K562	blood:	n/a	n/a
5	ARID3A	chr1:242107314-242107371	K562	blood:	n/a	n/a
6	ARID3A	chr1:241937342-241937877	K562	blood:	n/a	n/a
7	ARID3A	chr1:241992816-241992894	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:241998023-241998408	K562	blood:	n/a	n/a
9	ARID3A	chr1:242135954-242136215	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:242004667-242004671	K562	blood:	n/a	n/a
11	ARID3A	chr1:242059728-242060038	K562	blood:	n/a	n/a
12	ARID3A	chr1:242149085-242149421	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:241938087-241938302	K562	blood:	n/a	n/a
14	ARID3A	chr1:242097404-242097718	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:242087569-242087783	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:241933495-241933817	K562	blood:	n/a	n/a
17	ARID3A	chr1:241898598-241898935	K562	blood:	n/a	n/a
18	ARID3A	chr1:242010326-242012219	K562	blood:	n/a	n/a
19	ARID3A	chr1:242059677-242060049	HepG2	liver:	n/a	n/a
20	ARID3A	chr1:241996568-241997431	K562	blood:	n/a	n/a
21	ARID3A	chr1:241969803-241970700	K562	blood:	n/a	n/a
22	ARID3A	chr1:242010974-242011703	HepG2	liver:	n/a	n/a
23	ATF1	chr1:242128209-242128497	K562	blood:	n/a	n/a
24	ATF1	chr1:242139514-242139860	K562	blood:	n/a	n/a
25	ATF1	chr1:241998147-241998402	K562	blood:	n/a	n/a
26	ATF1	chr1:242137853-242137919	K562	blood:	n/a	n/a
27	ATF1	chr1:242147616-242147938	K562	blood:	n/a	n/a
28	ATF1	chr1:242010197-242012251	K562	blood:	n/a	n/a
29	ATF1	chr1:241970180-241970577	K562	blood:	n/a	n/a
30	ATF1	chr1:241973285-241973421	K562	blood:	n/a	n/a
31	ATF1	chr1:242130694-242130726	K562	blood:	n/a	n/a
32	ATF1	chr1:242058327-242058480	K562	blood:	n/a	n/a
33	ATF1	chr1:241897953-241898264	K562	blood:	n/a	n/a
34	ATF1	chr1:241913628-241913891	K562	blood:	n/a	n/a
35	ATF1	chr1:242059628-242059975	K562	blood:	n/a	n/a
36	ATF2	chr1:242161623-242162128	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr1:242097445-242097923	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr1:242010898-242011694	GM12878	blood:	n/a	chr1:242011450-242011461
39	ATF2	chr1:242010887-242011878	H1-hESC	embryonic stem cell:	n/a	chr1:242011450-242011461
40	ATF2	chr1:242161604-242162019	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr1:242097401-242097898	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr1:242010933-242011644	GM12878	blood:	n/a	chr1:242011450-242011461
43	ATF2	chr1:242011039-242011638	H1-hESC	embryonic stem cell:	n/a	chr1:242011450-242011461
44	ATF3	chr1:242136065-242136245	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF3	chr1:242011029-242011390	K562	blood:	n/a	n/a
46	ATF3	chr1:242010961-242011660	K562	blood:	n/a	chr1:242011449-242011462 chr1:242011449-242011460 chr1:242011448-242011463 chr1:242011452-242011459 chr1:242011449-242011462 chr1:242011452-242011460 chr1:242011450-242011461 chr1:242011449-242011459 chr1:242011450-242011463
47	ATF3	chr1:242010940-242011667	A549	lung:	n/a	chr1:242011449-242011462 chr1:242011449-242011460 chr1:242011448-242011463 chr1:242011452-242011459 chr1:242011449-242011462 chr1:242011452-242011460 chr1:242011450-242011461 chr1:242011449-242011459 chr1:242011450-242011463
48	ATF3	chr1:242010776-242011665	K562	blood:	n/a	chr1:242011449-242011462 chr1:242011449-242011460 chr1:242011448-242011463 chr1:242011452-242011459 chr1:242011449-242011462 chr1:242011452-242011460 chr1:242011450-242011461 chr1:242011449-242011459 chr1:242011450-242011463
49	ATF3	chr1:242136045-242136302	K562	blood:	n/a	n/a
50	ATF3	chr1:242153332-242153616	K562	blood:	n/a	n/a

(count:2626 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:241912768-241912818	ovcar-3	ovarian:	n/a
2	chr1:242011743-242011793	HNPCEpiC	eye:	n/a
3	chr1:242142475-242142525	ECC-1	luminal epithelium:	n/a
4	chr1:241912768-241912818	ovcar-3	ovarian:	n/a
5	chr1:242011743-242011793	HNPCEpiC	eye:	n/a
6	chr1:242142475-242142525	ECC-1	luminal epithelium:	n/a
7	chr1:241992272-241992322	MCF-7	breast:	n/a
8	chr1:242159456-242159506	HEK293	kidney:	embryo
9	chr1:242011513-242011563	NHBE	bronchial:	n/a
10	chr1:242011382-242011432	SKMC	muscle:	n/a
11	chr1:242011898-242011948	MCF10A-Er-Src	breast:	n/a
12	chr1:241981543-241981593	Jurkat	blood:	n/a
13	chr1:242162828-242162878	PFSK-1	brain:	n/a
14	chr1:242142475-242142525	HUVEC	blood vessel:	n/a
15	chr1:241912768-241912818	GM06990	blood:	n/a
16	chr1:242002464-242002514	PANC-1	pancreas:	n/a
17	chr1:242142508-242142558	HCT-116	colon:	n/a
18	chr1:242002464-242002514	NB4	blood:	n/a
19	chr1:241964727-241964777	HCPEpiC	choroid plexus:	n/a
20	chr1:242142508-242142558	PFSK-1	brain:	n/a
21	chr1:242121827-242121877	H1-hESC	embryonic stem cell:	embryo
22	chr1:242011447-242011497	HRE	kidney:	n/a
23	chr1:242163517-242163567	CMK	blood:	n/a
24	chr1:241912768-241912818	HEEpiC	esophagus:	n/a
25	chr1:242097870-242097920	SAEC	small airway:	n/a
26	chr1:242002464-242002514	AoSMC	blood vessel:	n/a
27	chr1:242122063-242122113	HEK293	kidney:	embryo
28	chr1:242120907-242120957	HRE	kidney:	n/a
29	chr1:242011433-242011483	HRPEpiC	eye:	n/a
30	chr1:242044107-242044157	SAEC	small airway:	n/a
31	chr1:242011057-242011107	SK-N-SH_RA	brain:	n/a
32	chr1:241992272-241992322	AG04450	lung:	fetal
33	chr1:242161806-242161856	ProgFib	skin:	n/a
34	chr1:242011587-242011637	NHBE	bronchial:	n/a
35	chr1:242142475-242142525	NB4	blood:	n/a
36	chr1:242159456-242159506	SK-N-SH_RA	brain:	n/a
37	chr1:242011396-242011446	HCT-116	colon:	n/a
38	chr1:242011104-242011154	PANC-1	pancreas:	n/a
39	chr1:242121230-242121280	LNCaP	prostate:	n/a
40	chr1:242097870-242097920	GM06990	blood:	n/a
41	chr1:242121526-242121576	AG04449	skin:	fetal
42	chr1:242011382-242011432	SK-N-MC	brain:	n/a
43	chr1:242030232-242030282	NB4	blood:	n/a
44	chr1:242012049-242012099	MCF10A-Er-Src	breast:	n/a
45	chr1:242163517-242163567	NB4	blood:	n/a
46	chr1:242011433-242011483	HUVEC	blood vessel:	n/a
47	chr1:242161780-242161830	NH-A	brain:	n/a
48	chr1:242011513-242011563	HEEpiC	esophagus:	n/a
49	chr1:242122063-242122113	SK-N-SH	brain:	n/a
50	chr1:242121526-242121576	IMR90	lung:	fetal

(count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr1:241884855..241887577-chr1:241896978..241898586,2	MCF-7	breast:
2	chr1:241800110..241802719-chr1:241917456..241919841,2	K562	blood:
3	chr1:241814475..241817056-chr1:242011284..242013767,3	K562	blood:
4	chr1:241931182..241934991-chr1:241935809..241940192,4	K562	blood:
5	chr1:242066650..242069303-chr1:242074434..242076420,2	K562	blood:
6	chr1:242121060..242121703-chr1:242148791..242149743,4	MCF-7	breast:
7	chr1:241774424..241775122-chr1:242161574..242162262,2	MCF-7	breast:
8	chr1:241892280..241894949-chr1:241897684..241899477,2	MCF-7	breast:
9	chr1:241797128..241801471-chr1:241975037..241977094,3	K562	blood:
10	chr1:241789486..241791019-chr1:241984145..241986452,2	K562	blood:
11	chr1:242082251..242084626-chr1:242095410..242097827,2	K562	blood:
12	chr1:242059953..242061763-chr1:242068532..242070106,2	K562	blood:
13	chr1:241694305..241695206-chr1:242161362..242162044,2	K562	blood:
14	chr1:242022063..242023665-chr1:242035192..242037679,2	K562	blood:
15	chr1:241972003..241974042-chr1:241981060..241983771,2	K562	blood:
16	chr1:242009621..242013856-chr1:242035396..242038763,5	MCF-7	breast:
17	chr1:242059480..242060334-chr1:242148747..242149804,4	K562	blood:
18	chr1:242120814..242121654-chr1:242161517..242162480,3	MCF-7	breast:
19	chr1:241992525..241994073-chr1:242002310..242004336,2	K562	blood:
20	chr1:241930047..241932478-chr1:241986893..241988841,2	K562	blood:
21	chr1:241774093..241774637-chr1:242059374..242059913,2	K562	blood:
22	chr1:241942426..241944298-chr1:241948267..241949893,2	K562	blood:
23	chr1:241871850..241872357-chr1:241964200..241964778,2	MCF-7	breast:
24	chr1:241693547..241697485-chr1:242010276..242012986,4	K562	blood:
25	chr1:241892280..241894949-chr1:241897684..241899477,2	MCF-7	breast:
26	chr1:241988599..241991404-chr1:241995097..241997500,3	K562	blood:
27	chr1:241797055..241798587-chr1:241897901..241900804,2	K562	blood:
28	chr1:241800789..241803579-chr1:241920453..241923115,2	K562	blood:
29	chr1:242080921..242083075-chr1:242088062..242090649,2	MCF-7	breast:
30	chr1:241950897..241952797-chr1:241958252..241960305,2	K562	blood:
31	chr1:241906235..241909408-chr1:241912000..241913987,3	K562	blood:
32	chr1:242024439..242027110-chr1:242027352..242028876,2	MCF-7	breast:
33	chr1:241773996..241774978-chr1:241919764..241920550,2	MCF-7	breast:
34	chr1:241906486..241909325-chr1:241912182..241914206,2	K562	blood:
35	chr1:241694483..241695572-chr1:241997826..241998628,3	MCF-7	breast:
36	chr1:241970555..241972246-chr1:241972959..241974560,2	K562	blood:
37	chr1:242082251..242084626-chr1:242095410..242097827,2	K562	blood:
38	chr1:241796724..241805103-chr1:242008052..242013159,15	K562	blood:
39	chr1:241983775..241986188-chr1:241988893..241991233,2	K562	blood:
40	chr1:241972366..241975039-chr1:241979342..241982449,3	MCF-7	breast:
41	chr1:241966386..241967889-chr1:241975945..241977942,2	MCF-7	breast:
42	chr1:241964320..241966577-chr1:241982376..241983893,2	MCF-7	breast:
43	chr1:241801200..241805205-chr1:241910998..241914529,7	MCF-7	breast:
44	chr1:242011208..242011713-chr5:40678933..40679886,2	Hela-S3	cervix:
45	chr1:241767091..241768658-chr1:242019786..242021766,2	K562	blood:
46	chr1:241692902..241697485-chr1:242010276..242014432,6	K562	blood:
47	chr1:242101934..242104578-chr1:242110497..242113039,2	K562	blood:
48	chr1:241961947..241964736-chr1:241977926..241980630,2	MCF-7	breast:
49	chr1:241852237..241854892-chr1:242017899..242019759,2	K562	blood:
50	chr1:241801132..241803391-chr1:241936731..241938853,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXO1-1	chr1:242074676-242075035	XLOC_000638
2	lnc-EXO1-1	chr1:242061356-242061975	NONHSAT010556
3	lnc-OPN3-3	chr1:241962658-241962914	uc_43_-
4	lnc-EXO1-1	chr1:242071423-242071511	NONHSAT010556
5	lnc-EXO1-1	chr1:242072240-242072365	XLOC_000638
6	lnc-EXO1-1	chr1:242072153-242072836	NONHSAT010556
7	lnc-EXO1-8	chr1:242147327-242147451	ucscGeneNc_uc001iac_2
8	lnc-EXO1-5	chr1:242079425-242079845	NONHSAT010558
9	lnc-EXO1-8	chr1:242147327-242147451	NONHSAT010559
10	lnc-EXO1-6	chr1:241962658-241962914	uc_43_+

No data

Variant related genes	Relation type
EXO1	TF binding region
BECN1P1	TF binding region
ENSG00000229022	TF binding region
CFL1P4	TF binding region
WDR64	TF binding region
MAP1LC3C	TF binding region
ENSG00000235990	TF binding region
EXO1	CpG island
BECN1P1	CpG island
ENSG00000229022	CpG island
CFL1P4	CpG island
WDR64	CpG island
MAP1LC3C	CpG island
ENSG00000235990	CpG island
ENSG00000153187	chromatin interactions
ENSG00000117009	chromatin interactions
ENSG00000140682	chromatin interactions
ENSG00000093000	chromatin interactions
ENSG00000140598	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000229022	chromatin interactions
ENSG00000203668	chromatin interactions
ENSG00000157456	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000162843	chromatin interactions
ENSG00000054277	chromatin interactions
ENSG00000197769	chromatin interactions
ENSG00000196289	chromatin interactions
ENSG00000174371	chromatin interactions
ENSG00000091483	chromatin interactions
CCNE1	miRNA target sites

Extended variants
information (count: 11689 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:11689 , 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	rs562259988	chr1:241886518-241886519	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529264409	chr1:241886526-241886527	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527848314	chr1:241886536-241886537	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146784743	chr1:241886548-241886549	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371866680	chr1:241886555-241886556	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376521878	chr1:241886562-241886563	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543261614	chr1:241886565-241886566	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367669481	chr1:241886575-241886576	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369813334	chr1:241886585-241886586	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564388666	chr1:241886615-241886616	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147552084	chr1:241886617-241886618	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145843472	chr1:241886642-241886643	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56327926	chr1:241886645-241886646	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142030663	chr1:241886650-241886651	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374375319	chr1:241886671-241886672	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138786182	chr1:241886681-241886682	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377288411	chr1:241886682-241886683	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142859030	chr1:241886684-241886685	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146321451	chr1:241886690-241886691	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201617636	chr1:241886695-241886696	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10926547	chr1:241886717-241886718	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568273380	chr1:241886734-241886735	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142645830	chr1:241886740-241886741	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181332707	chr1:241886749-241886750	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555020438	chr1:241886751-241886752	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10926548	chr1:241886754-241886755	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10926549	chr1:241886764-241886765	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370795004	chr1:241886765-241886766	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556405274	chr1:241886770-241886771	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369473613	chr1:241886778-241886779	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536574460	chr1:241886779-241886780	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377494707	chr1:241886787-241886788	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56403213	chr1:241886790-241886791	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372319786	chr1:241886798-241886799	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10926550	chr1:241886861-241886862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141025685	chr1:241886872-241886873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545462637	chr1:241886894-241886895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562456942	chr1:241886898-241886899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149856967	chr1:241886916-241886917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568094287	chr1:241886931-241886932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7522933	chr1:241886936-241886937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527573226	chr1:241886990-241886991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138001623	chr1:241887050-241887051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547743872	chr1:241887058-241887059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570633652	chr1:241887075-241887076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539660121	chr1:241887093-241887094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10718281	chr1:241887097-241887098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs397983538	chr1:241887105-241887106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369612566	chr1:241887146-241887147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7554126	chr1:241887181-241887182	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2219 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241875000-241887800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:241879000-241891800	Weak transcription	K562	blood
3	chr1:241886400-241886600	Enhancers	Pancreas	Pancrea
4	chr1:241886400-241886800	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr1:241886400-241886800	Enhancers	Fetal Brain Male	brain
6	chr1:241886400-241886800	Enhancers	Ovary	ovary
7	chr1:241886800-241887000	Enhancers	Brain Germinal Matrix	brain
8	chr1:241886800-241888200	Weak transcription	Ovary	ovary
9	chr1:241887400-241888000	Enhancers	A549	lung
10	chr1:241888000-241888600	Flanking Active TSS	A549	lung
11	chr1:241888200-241888400	Enhancers	Ovary	ovary
12	chr1:241890400-241891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:241891800-241892800	Enhancers	K562	blood
14	chr1:241892800-241897000	Weak transcription	K562	blood
15	chr1:241897000-241899000	Enhancers	K562	blood
16	chr1:241899000-241899600	Flanking Active TSS	K562	blood
17	chr1:241899400-241900600	Enhancers	Primary T cells from cord blood	blood
18	chr1:241899400-241900600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:241899600-241900200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:241899600-241900200	Enhancers	K562	blood
21	chr1:241901600-241903800	Enhancers	Fetal Heart	heart
22	chr1:241902800-241903200	Enhancers	Brain Germinal Matrix	brain
23	chr1:241906400-241907000	Enhancers	K562	blood
24	chr1:241908400-241908800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:241910200-241910400	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:241911000-241911400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:241911000-241911400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:241911000-241911400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:241911000-241911600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:241911000-241911800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:241911000-241912600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:241911200-241911400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:241911200-241911600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:241911200-241912200	Enhancers	Placenta	Placenta
35	chr1:241911400-241912800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:241911600-241911800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:241911600-241912800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:241912000-241912800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:241912000-241912800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:241912000-241913000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:241912000-241913000	Active TSS	Ovary	ovary
42	chr1:241912200-241912400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:241912200-241912400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:241912200-241912400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:241912200-241912400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:241912200-241912400	Active TSS	Hela-S3	cervix
47	chr1:241912200-241912400	Active TSS	HMEC	breast
48	chr1:241912200-241912400	Active TSS	Osteobl	bone
49	chr1:241912200-241912600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:241912200-241912600	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links