Variant report

Variant	nsv523389
Chromosome Location	chr1:220926844-220956012
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	ARID3A	chr1:220940170-220941969	HepG2	liver:	n/a	n/a
2	ATF1	chr1:220941410-220941519	K562	blood:	n/a	n/a
3	BACH1	chr1:220948748-220948901	K562	blood:	n/a	n/a
4	BACH1	chr1:220950016-220950205	K562	blood:	n/a	n/a
5	BHLHE40	chr1:220950106-220950393	K562	blood:	n/a	n/a
6	BHLHE40	chr1:220950091-220950489	HepG2	liver:	n/a	n/a
7	BHLHE40	chr1:220943570-220944287	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:220950085-220950294	GM12878	blood:	n/a	n/a
9	BRCA1	chr1:220943670-220943862	GM12878	blood:	n/a	n/a
10	CBX3	chr1:220950010-220950321	K562	blood:	n/a	n/a
11	CEBPB	chr1:220940585-220940908	A549	lung:	n/a	n/a
12	CEBPB	chr1:220944707-220944914	IMR90	lung:	n/a	chr1:220944804-220944813 chr1:220944802-220944815 chr1:220944802-220944813
13	CEBPB	chr1:220941535-220941976	K562	blood:	n/a	chr1:220941934-220941945
14	CEBPB	chr1:220940592-220940936	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:220941568-220941940	K562	blood:	n/a	n/a
16	CEBPB	chr1:220940568-220942114	HepG2	liver:	n/a	chr1:220941934-220941945
17	CEBPB	chr1:220941598-220941902	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:220951510-220951573	IMR90	lung:	n/a	chr1:220951540-220951551
19	CEBPB	chr1:220944709-220944951	K562	blood:	n/a	chr1:220944804-220944813 chr1:220944802-220944815 chr1:220944802-220944813
20	CEBPB	chr1:220951518-220951638	HepG2	liver:	n/a	chr1:220951540-220951551
21	CEBPB	chr1:220941593-220941988	HepG2	liver:	n/a	chr1:220941934-220941945
22	CEBPB	chr1:220940729-220940857	K562	blood:	n/a	n/a
23	CEBPB	chr1:220940667-220940898	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr1:220940618-220941989	HepG2	liver:	n/a	chr1:220941934-220941945
25	CEBPB	chr1:220940641-220940896	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:220950136-220950318	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr1:220950072-220950315	GM12878	blood:	n/a	n/a
28	CHD1	chr1:220949927-220950377	IMR90	lung:	n/a	n/a
29	CHD2	chr1:220953006-220953054	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr1:220943630-220944216	GM12878	blood:	n/a	n/a
31	CHD2	chr1:220940777-220941118	HepG2	liver:	n/a	n/a
32	CTCF	chr1:220948683-220948874	MCF-7	breast:	n/a	chr1:220948778-220948788 chr1:220948776-220948789 chr1:220948773-220948791 chr1:220948774-220948790 chr1:220948775-220948796 chr1:220948776-220948789 chr1:220948776-220948785
33	CTCF	chr1:220950140-220950290	GM12870	blood:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
34	CTCF	chr1:220948680-220948830	GM12864	blood:	n/a	chr1:220948778-220948788 chr1:220948776-220948789 chr1:220948773-220948791 chr1:220948774-220948790 chr1:220948775-220948796 chr1:220948776-220948789 chr1:220948776-220948785
35	CTCF	chr1:220950120-220950270	AG04450	lung:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
36	CTCF	chr1:220950083-220950439	T-47D	breast:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
37	CTCF	chr1:220950534-220950549	GM12878	blood:	n/a	n/a
38	CTCF	chr1:220950160-220950310	GM12878	blood:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
39	CTCF	chr1:220950140-220950290	Hela-S3	cervix:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
40	CTCF	chr1:220950035-220950375	HepG2	liver:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
41	CTCF	chr1:220950084-220950414	MCF-7	breast:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
42	CTCF	chr1:220948700-220948850	HMEC	breast:	n/a	chr1:220948778-220948788 chr1:220948776-220948789 chr1:220948773-220948791 chr1:220948774-220948790 chr1:220948775-220948796 chr1:220948776-220948789 chr1:220948776-220948785
43	CTCF	chr1:220950100-220950250	NHLF	lung:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
44	CTCF	chr1:220949990-220950508	A549	lung:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
45	CTCF	chr1:220948700-220948850	GM12870	blood:	n/a	chr1:220948778-220948788 chr1:220948776-220948789 chr1:220948773-220948791 chr1:220948774-220948790 chr1:220948775-220948796 chr1:220948776-220948789 chr1:220948776-220948785
46	CTCF	chr1:220948700-220948850	GM12801	blood:	n/a	chr1:220948778-220948788 chr1:220948776-220948789 chr1:220948773-220948791 chr1:220948774-220948790 chr1:220948775-220948796 chr1:220948776-220948789 chr1:220948776-220948785
47	CTCF	chr1:220948571-220948963	K562	blood:	n/a	chr1:220948778-220948788 chr1:220948776-220948789 chr1:220948773-220948791 chr1:220948774-220948790 chr1:220948775-220948796 chr1:220948776-220948789 chr1:220948776-220948785
48	CTCF	chr1:220949844-220950621	HCT-116	colon:	n/a	chr1:220950226-220950244 chr1:220950221-220950242 chr1:220950227-220950243
49	CTCF	chr1:220949160-220949310	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr1:220941780-220941930	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220950205-220950255	GM12878	blood:	n/a
2	chr1:220950205-220950255	NT2-D1	testis:	n/a
3	chr1:220950205-220950255	GM12891	blood:	n/a
4	chr1:220950205-220950255	AoSMC	blood vessel:	n/a
5	chr1:220950205-220950255	AG10803	skin:	n/a
6	chr1:220950205-220950255	HUVEC	blood vessel:	n/a
7	chr1:220950205-220950255	HL-60	blood:	n/a
8	chr1:220950205-220950255	Hela-S3	cervix:	n/a
9	chr1:220950205-220950255	RPTEC	kidney:	n/a
10	chr1:220950205-220950255	T-47D	breast:	n/a
11	chr1:220950205-220950255	GM06990	blood:	n/a
12	chr1:220950205-220950255	Caco-2	colon:	n/a
13	chr1:220950205-220950255	HIPEpiC	eye:	n/a
14	chr1:220950205-220950255	H1-hESC	embryonic stem cell:	embryo
15	chr1:220950205-220950255	SAEC	small airway:	n/a
16	chr1:220950205-220950255	Hepatocyte	liver:	n/a
17	chr1:220950205-220950255	U87	brain:	n/a
18	chr1:220950205-220950255	HRE	kidney:	n/a
19	chr1:220950205-220950255	PFSK-1	brain:	n/a
20	chr1:220950205-220950255	CMK	blood:	n/a
21	chr1:220950205-220950255	HCT-116	colon:	n/a
22	chr1:220950205-220950255	HCM	heart:	n/a
23	chr1:220950205-220950255	GM12892	blood:	n/a
24	chr1:220950205-220950255	LNCaP	prostate:	n/a
25	chr1:220950205-220950255	MCF10A-Er-Src	breast:	n/a
26	chr1:220950205-220950255	BE2_C	brain:	n/a
27	chr1:220950205-220950255	HepG2	liver:	n/a
28	chr1:220950205-220950255	SKMC	muscle:	n/a
29	chr1:220950205-220950255	AG09309	skin:	n/a
30	chr1:220950205-220950255	HRCEpiC	kidney:	n/a
31	chr1:220950205-220950255	ovcar-3	ovarian:	n/a
32	chr1:220950205-220950255	HAEpiC	amniotic membrane:	n/a
33	chr1:220950205-220950255	AG09319	gingival:	n/a
34	chr1:220950205-220950255	NB4	blood:	n/a
35	chr1:220950205-220950255	A549	lung:	n/a
36	chr1:220950205-220950255	ECC-1	luminal epithelium:	n/a
37	chr1:220950205-220950255	AG04449	skin:	fetal
38	chr1:220950205-220950255	HRPEpiC	eye:	n/a
39	chr1:220950205-220950255	HCPEpiC	choroid plexus:	n/a
40	chr1:220950205-220950255	HEK293	kidney:	embryo
41	chr1:220950205-220950255	BJ	skin:	n/a
42	chr1:220950205-220950255	PANC-1	pancreas:	n/a
43	chr1:220950205-220950255	NHBE	bronchial:	n/a
44	chr1:220950205-220950255	HMEC	breast:	n/a
45	chr1:220950205-220950255	MCF-7	breast:	n/a
46	chr1:220950205-220950255	HEEpiC	esophagus:	n/a
47	chr1:220950205-220950255	SK-N-MC	brain:	n/a
48	chr1:220950205-220950255	AG04450	lung:	fetal
49	chr1:220950205-220950255	SK-N-SH	brain:	n/a
50	chr1:220950205-220950255	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220940137..220941069-chr1:220949712..220950687,2	K562	blood:
2	chr1:220939346..220941302-chr1:220942720..220944572,2	MCF-7	breast:
3	chr1:220934709..220937356-chr1:220938309..220941059,2	K562	blood:
4	chr1:220925438..220927343-chr1:220929690..220931741,2	K562	blood:
5	chr1:220947345..220950182-chr1:220956454..220959292,3	MCF-7	breast:
6	chr1:220942073..220944340-chr1:220961734..220963396,2	K562	blood:
7	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:
8	chr1:220939346..220941302-chr1:220942720..220944572,2	MCF-7	breast:
9	chr1:220950664..220952187-chr1:220959434..220961984,2	MCF-7	breast:
10	chr1:220362290..220363261-chr1:220949508..220950179,2	MCF-7	breast:
11	chr1:220954637..220956826-chr1:220957908..220960668,2	K562	blood:
12	chr1:220942405..220943907-chr1:220947145..220949328,2	K562	blood:
13	chr1:220935678..220937242-chr1:220938232..220939996,2	MCF-7	breast:
14	chr1:220935174..220937582-chr1:220941200..220942748,2	MCF-7	breast:
15	chr1:220926710..220928570-chr1:220929149..220931113,2	MCF-7	breast:
16	chr1:220940137..220941069-chr1:220949712..220950687,2	K562	blood:
17	chr1:220454085..220454972-chr1:220949753..220950641,2	K562	blood:
18	chr1:220933592..220936563-chr1:220940646..220943203,2	MCF-7	breast:
19	chr1:220863137..220864098-chr1:220949765..220950552,4	MCF-7	breast:
20	chr1:220955139..220958269-chr1:220958999..220960888,3	MCF-7	breast:
21	chr1:220853123..220854093-chr1:220949753..220950686,4	K562	blood:
22	chr1:220955910..220958578-chr1:220974519..220976128,2	MCF-7	breast:
23	chr1:220469571..220470221-chr1:220949339..220950314,2	K562	blood:
24	chr1:220934709..220937356-chr1:220938309..220941059,2	K562	blood:
25	chr1:220932972..220935057-chr1:220960206..220962159,2	MCF-7	breast:
26	chr1:220933592..220936563-chr1:220940646..220943203,2	MCF-7	breast:
27	chr1:220932351..220934813-chr1:220937381..220940360,2	K562	blood:
28	chr1:220544949..220545711-chr1:220949715..220950622,2	MCF-7	breast:
29	chr1:220926710..220928570-chr1:220929149..220931113,2	MCF-7	breast:
30	chr1:220935174..220937582-chr1:220941200..220942748,2	MCF-7	breast:
31	chr1:220949723..220950745-chr1:220976731..220977609,3	MCF-7	breast:
32	chr1:220949726..220950489-chr3:184278713..184279330,2	MCF-7	breast:
33	chr1:220919541..220922225-chr1:220936544..220938404,2	K562	blood:
34	chr1:220920704..220923005-chr1:220929506..220932087,2	MCF-7	breast:
35	chr1:220469385..220470228-chr1:220949821..220950691,3	MCF-7	breast:
36	chr1:220921708..220923550-chr1:220934385..220936474,2	MCF-7	breast:
37	chr1:220953456..220955910-chr1:220956929..220958618,2	MCF-7	breast:
38	chr1:220942405..220943907-chr1:220947145..220949328,2	K562	blood:
39	chr1:220863249..220864128-chr1:220950068..220950638,2	K562	blood:
40	chr1:220344081..220345717-chr1:220948447..220950256,2	MCF-7	breast:
41	chr1:220944994..220947101-chr1:220951123..220953562,2	MCF-7	breast:
42	chr1:220922191..220924696-chr1:220926273..220928216,2	MCF-7	breast:
43	chr1:220949362..220952118-chr1:220955104..220958049,2	K562	blood:
44	chr1:220943102..220945279-chr1:220957111..220959212,2	MCF-7	breast:
45	chr1:220926792..220928893-chr1:220934076..220936520,2	MCF-7	breast:
46	chr1:220925438..220927343-chr1:220929690..220931741,2	K562	blood:
47	chr1:220948312..220949387-chr1:220976677..220977584,4	MCF-7	breast:
48	chr1:220949362..220952118-chr1:220955104..220958049,2	K562	blood:
49	chr1:220932351..220934813-chr1:220937381..220940360,2	K562	blood:
50	chr1:220935678..220937242-chr1:220938232..220939996,2	MCF-7	breast:

Variant related genes	Relation type
MARC2	TF binding region
MARC1	TF binding region
MARC2	CpG island
MARC1	CpG island
ENSG00000162817	chromatin interactions
ENSG00000117791	chromatin interactions
ENSG00000186205	chromatin interactions

Extended variants
information (count: 1315 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12407624	chr1:220926844-220926845	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76178819	chr1:220926848-220926849	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146045159	chr1:220926864-220926865	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372873858	chr1:220926906-220926907	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148688886	chr1:220926912-220926913	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142292319	chr1:220926926-220926927	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540632875	chr1:220926932-220926933	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560839416	chr1:220926934-220926935	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529729240	chr1:220926964-220926965	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151242858	chr1:220926967-220926968	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35158298	chr1:220926979-220926980	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377223511	chr1:220926986-220926987	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559868907	chr1:220927045-220927046	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375802492	chr1:220927067-220927068	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs386118	chr1:220927115-220927116	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs549924138	chr1:220927142-220927143	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs439130	chr1:220927163-220927164	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs537690387	chr1:220927165-220927166	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548353345	chr1:220927182-220927183	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551175058	chr1:220927212-220927213	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139314011	chr1:220927237-220927238	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149998464	chr1:220927252-220927253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553353709	chr1:220927256-220927257	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573106485	chr1:220927284-220927285	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571780066	chr1:220927285-220927286	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188366962	chr1:220927334-220927335	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6541158	chr1:220927345-220927346	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373109564	chr1:220927355-220927356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372778655	chr1:220927366-220927367	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373073944	chr1:220927382-220927383	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79196411	chr1:220927411-220927412	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181360458	chr1:220927417-220927418	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147719627	chr1:220927419-220927420	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375565802	chr1:220927428-220927429	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185138636	chr1:220927436-220927437	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567938660	chr1:220927478-220927479	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1690716	chr1:220927511-220927512	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs142582949	chr1:220927534-220927535	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150135850	chr1:220927545-220927546	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531216611	chr1:220927564-220927565	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551211955	chr1:220927610-220927611	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556832311	chr1:220927689-220927690	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs41314538	chr1:220927771-220927772	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74663234	chr1:220927772-220927773	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs60087444	chr1:220927773-220927774	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs60183673	chr1:220927805-220927806	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182019726	chr1:220927809-220927810	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs41314536	chr1:220927823-220927824	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568844104	chr1:220927857-220927858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs58538649	chr1:220927867-220927868	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220927000	Weak transcription	Small Intestine	intestine
3	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
6	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:220923200-220927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:220923200-220927400	Enhancers	Pancreas	Pancrea
14	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
15	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:220923400-220927000	Enhancers	Right Ventricle	heart
17	chr1:220923800-220928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:220923800-220928200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:220923800-220928200	Weak transcription	Placenta	Placenta
20	chr1:220923800-220928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:220924000-220927200	Weak transcription	NHLF	lung
22	chr1:220924000-220927400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:220924000-220927600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:220924000-220928400	Weak transcription	Aorta	Aorta
25	chr1:220924000-220928600	Weak transcription	A549	lung
26	chr1:220924200-220928200	Weak transcription	HUVEC	blood vessel
27	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:220924400-220927800	Enhancers	Left Ventricle	heart
31	chr1:220924400-220928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:220924400-220928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:220924400-220928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:220924800-220927200	Enhancers	Fetal Lung	lung
37	chr1:220924800-220928000	Weak transcription	Fetal Stomach	stomach
38	chr1:220924800-220928400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:220924800-220931200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:220924800-220945600	Weak transcription	Osteobl	bone
41	chr1:220925000-220927600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:220925000-220928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:220925000-220928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:220925000-220929000	Weak transcription	Brain Germinal Matrix	brain
45	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
47	chr1:220925200-220927200	Weak transcription	Stomach Mucosa	stomach
48	chr1:220925200-220927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220925200-220928000	Weak transcription	Colonic Mucosa	Colon
50	chr1:220925200-220928200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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