Variant report

Variant	nsv1049465
Chromosome Location	chr12:62657011-62785005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:860)
CpG islands
(count:122)
Chromatin interactive
region (count:140)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:62661469-62661676	K562	blood:	n/a	n/a
2	ARID3A	chr12:62667762-62667966	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:62663716-62663889	K562	blood:	n/a	n/a
4	ARID3A	chr12:62746746-62746792	K562	blood:	n/a	n/a
5	ARID3A	chr12:62656748-62657216	K562	blood:	n/a	n/a
6	ARID3A	chr12:62700167-62700704	K562	blood:	n/a	n/a
7	ARID3A	chr12:62698384-62698510	K562	blood:	n/a	n/a
8	ARID3A	chr12:62684243-62684395	K562	blood:	n/a	n/a
9	ARID3A	chr12:62664381-62665051	K562	blood:	n/a	n/a
10	ARID3A	chr12:62681861-62682612	K562	blood:	n/a	n/a
11	ARID3A	chr12:62662011-62663076	K562	blood:	n/a	n/a
12	ARID3A	chr12:62666381-62667757	K562	blood:	n/a	n/a
13	ATF1	chr12:62671900-62672484	K562	blood:	n/a	n/a
14	ATF1	chr12:62765570-62765612	K562	blood:	n/a	n/a
15	ATF1	chr12:62662754-62663061	K562	blood:	n/a	n/a
16	ATF1	chr12:62676295-62676495	K562	blood:	n/a	n/a
17	ATF1	chr12:62763062-62763076	K562	blood:	n/a	n/a
18	BACH1	chr12:62681922-62681925	K562	blood:	n/a	n/a
19	BACH1	chr12:62698432-62698516	K562	blood:	n/a	n/a
20	BACH1	chr12:62699821-62699903	K562	blood:	n/a	n/a
21	BHLHE40	chr12:62688047-62688055	K562	blood:	n/a	n/a
22	BHLHE40	chr12:62657657-62658042	GM12878	blood:	n/a	n/a
23	BHLHE40	chr12:62694835-62695145	GM12878	blood:	n/a	n/a
24	BHLHE40	chr12:62701956-62702088	A549	lung:	n/a	n/a
25	BHLHE40	chr12:62657894-62657973	K562	blood:	n/a	n/a
26	BHLHE40	chr12:62719187-62719197	K562	blood:	n/a	n/a
27	BRCA1	chr12:62730451-62730470	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr12:62712340-62712356	GM12878	blood:	n/a	n/a
29	CBX3	chr12:62684574-62684996	K562	blood:	n/a	n/a
30	CBX3	chr12:62698215-62698749	K562	blood:	n/a	n/a
31	CBX3	chr12:62739376-62739820	K562	blood:	n/a	n/a
32	CBX3	chr12:62712483-62713416	K562	blood:	n/a	n/a
33	CBX3	chr12:62698808-62699393	K562	blood:	n/a	n/a
34	CBX3	chr12:62713575-62714322	K562	blood:	n/a	n/a
35	CBX3	chr12:62713710-62714230	K562	blood:	n/a	n/a
36	CCNT2	chr12:62699779-62699979	K562	blood:	n/a	n/a
37	CCNT2	chr12:62700885-62701085	K562	blood:	n/a	n/a
38	CCNT2	chr12:62713839-62714105	K562	blood:	n/a	n/a
39	CEBPB	chr12:62681665-62682008	K562	blood:	n/a	chr12:62681833-62681844
40	CEBPB	chr12:62762287-62762561	ECC-1	luminal epithelium:	n/a	chr12:62762397-62762408
41	CEBPB	chr12:62665389-62665575	K562	blood:	n/a	n/a
42	CEBPB	chr12:62744937-62744992	K562	blood:	n/a	n/a
43	CEBPB	chr12:62676193-62676586	K562	blood:	n/a	n/a
44	CEBPB	chr12:62662744-62663168	IMR90	lung:	n/a	n/a
45	CEBPB	chr12:62662791-62663109	K562	blood:	n/a	n/a
46	CEBPB	chr12:62762215-62762589	HepG2	liver:	n/a	chr12:62762397-62762408
47	CEBPB	chr12:62681697-62681959	A549	lung:	n/a	chr12:62681833-62681844
48	CEBPB	chr12:62678214-62678272	A549	lung:	n/a	n/a
49	CEBPB	chr12:62662732-62663131	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr12:62676258-62676575	IMR90	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:62685785-62685835	Hepatocyte	liver:	n/a
2	chr12:62661012-62661062	ovcar-3	ovarian:	n/a
3	chr12:62685785-62685835	ovcar-3	ovarian:	n/a
4	chr12:62661012-62661062	SK-N-SH_RA	brain:	n/a
5	chr12:62661012-62661062	Jurkat	blood:	n/a
6	chr12:62685785-62685835	AG04449	skin:	fetal
7	chr12:62685785-62685835	PFSK-1	brain:	n/a
8	chr12:62661012-62661062	GM12891	blood:	n/a
9	chr12:62685785-62685835	NHDF-neo	bronchial:	n/a
10	chr12:62685785-62685835	T-47D	breast:	n/a
11	chr12:62685785-62685835	HRE	kidney:	n/a
12	chr12:62661012-62661062	GM19239	blood:	n/a
13	chr12:62685785-62685835	U87	brain:	n/a
14	chr12:62661012-62661062	HEK293	kidney:	embryo
15	chr12:62685785-62685835	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:62685785-62685835	ECC-1	luminal epithelium:	n/a
17	chr12:62685785-62685835	Hela-S3	cervix:	n/a
18	chr12:62685785-62685835	HUVEC	blood vessel:	n/a
19	chr12:62685785-62685835	IMR90	lung:	fetal
20	chr12:62685785-62685835	NT2-D1	testis:	n/a
21	chr12:62685785-62685835	HCF	heart:	n/a
22	chr12:62661012-62661062	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:62661012-62661062	H1-hESC	embryonic stem cell:	embryo
24	chr12:62661012-62661062	HIPEpiC	eye:	n/a
25	chr12:62685785-62685835	LNCaP	prostate:	n/a
26	chr12:62685785-62685835	SKMC	muscle:	n/a
27	chr12:62661012-62661062	SAEC	small airway:	n/a
28	chr12:62661012-62661062	AG04449	skin:	fetal
29	chr12:62661012-62661062	HRPEpiC	eye:	n/a
30	chr12:62661012-62661062	NT2-D1	testis:	n/a
31	chr12:62661012-62661062	PANC-1	pancreas:	n/a
32	chr12:62685785-62685835	NH-A	brain:	n/a
33	chr12:62661012-62661062	SK-N-MC	brain:	n/a
34	chr12:62661012-62661062	BE2_C	brain:	n/a
35	chr12:62661012-62661062	U87	brain:	n/a
36	chr12:62661012-62661062	K562	blood:	n/a
37	chr12:62685785-62685835	NB4	blood:	n/a
38	chr12:62661012-62661062	RPTEC	kidney:	n/a
39	chr12:62685785-62685835	K562	blood:	n/a
40	chr12:62661012-62661062	Hepatocyte	liver:	n/a
41	chr12:62661012-62661062	ECC-1	luminal epithelium:	n/a
42	chr12:62685785-62685835	AG10803	skin:	n/a
43	chr12:62685785-62685835	HRPEpiC	eye:	n/a
44	chr12:62685785-62685835	HEK293	kidney:	embryo
45	chr12:62685785-62685835	MCF10A-Er-Src	breast:	n/a
46	chr12:62661012-62661062	A549	lung:	n/a
47	chr12:62685785-62685835	NHBE	bronchial:	n/a
48	chr12:62661012-62661062	LNCaP	prostate:	n/a
49	chr12:62661012-62661062	HRCEpiC	kidney:	n/a
50	chr12:62661012-62661062	HRE	kidney:	n/a

(count:140 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:62745934..62748051-chr12:62750275..62752783,2	K562	blood:
2	chr12:62764382..62767308-chr12:62771022..62773743,2	MCF-7	breast:
3	chr12:62764382..62767308-chr12:62771022..62773743,2	MCF-7	breast:
4	chr12:62658927..62663716-chr12:62665926..62669269,6	K562	blood:
5	chr12:62706034..62708683-chr12:62717925..62720419,2	K562	blood:
6	chr12:62689073..62691072-chr12:62705892..62707809,2	MCF-7	breast:
7	chr12:62726090..62727805-chr12:62730442..62732806,2	K562	blood:
8	chr12:62753776..62756311-chr12:62756816..62758534,2	MCF-7	breast:
9	chr12:62684895..62687117-chr12:62701993..62704018,2	MCF-7	breast:
10	chr12:62704272..62709649-chr12:62710111..62714099,4	K562	blood:
11	chr12:62654217..62657046-chr12:62663377..62665322,2	MCF-7	breast:
12	chr12:62665900..62668712-chr12:62685607..62687390,2	K562	blood:
13	chr12:62761577..62764023-chr12:62770574..62773104,2	K562	blood:
14	chr12:62700290..62703932-chr12:62705141..62707434,3	MCF-7	breast:
15	chr12:62653180..62655433-chr12:62713358..62715236,3	K562	blood:
16	chr12:62655349..62657047-chr12:62679451..62682402,2	K562	blood:
17	chr12:62636676..62638829-chr12:62658286..62659994,2	MCF-7	breast:
18	chr12:62669432..62672054-chr12:62682011..62684477,2	MCF-7	breast:
19	chr12:62696887..62698496-chr12:62702345..62703932,2	MCF-7	breast:
20	chr12:62698399..62700160-chr12:62709185..62711348,2	K562	blood:
21	chr12:62685750..62688478-chr12:62691387..62693441,2	MCF-7	breast:
22	chr12:62684895..62687117-chr12:62701993..62704018,2	MCF-7	breast:
23	chr12:62661789..62663632-chr12:62668406..62670876,2	MCF-7	breast:
24	chr12:62683752..62687309-chr12:62693284..62697639,4	K562	blood:
25	chr12:62665950..62669745-chr12:62669787..62672492,3	MCF-7	breast:
26	chr12:62720361..62722698-chr12:62723343..62725405,2	MCF-7	breast:
27	chr12:62717168..62719794-chr12:62722542..62725055,3	K562	blood:
28	chr12:62665991..62668635-chr12:62694921..62697078,2	MCF-7	breast:
29	chr12:62696887..62698496-chr12:62702345..62703932,2	MCF-7	breast:
30	chr12:62744670..62747434-chr12:62749938..62751775,3	K562	blood:
31	chr12:62761577..62764023-chr12:62770574..62773104,2	K562	blood:
32	chr12:62700290..62703932-chr12:62705141..62707434,3	MCF-7	breast:
33	chr12:62674932..62676945-chr12:62683042..62684862,2	K562	blood:
34	chr12:62664793..62666534-chr12:62676803..62678549,2	K562	blood:
35	chr12:62654095..62655917-chr12:62684631..62686399,2	MCF-7	breast:
36	chr12:62753967..62754837-chr12:62829198..62830040,2	MCF-7	breast:
37	chr12:62653168..62655922-chr12:62682408..62685146,3	K562	blood:
38	chr12:62768949..62769464-chr12:125737941..125738665,2	MCF-7	breast:
39	chr12:62781223..62783552-chr12:62783907..62785428,2	MCF-7	breast:
40	chr12:62685329..62689047-chr12:62691891..62696883,6	K562	blood:
41	chr12:62761857..62764303-chr12:62773893..62776706,2	MCF-7	breast:
42	chr12:62713327..62717130-chr12:62718435..62722595,6	K562	blood:
43	chr12:62744561..62747048-chr12:62754909..62756695,2	K562	blood:
44	chr12:62696269..62698660-chr12:62715380..62717526,2	K562	blood:
45	chr12:62742796..62744490-chr12:62747117..62749304,2	K562	blood:
46	chr12:62662341..62664001-chr12:62666915..62669884,2	K562	blood:
47	chr12:62710181..62712790-chr12:62740670..62743497,2	K562	blood:
48	chr12:62685750..62688478-chr12:62691387..62693441,2	MCF-7	breast:
49	chr12:62748743..62751580-chr12:62752325..62755740,5	K562	blood:
50	chr12:62653472..62656120-chr12:62686475..62688056,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf61-2	chr12:62672887-62672931	NONHSAT029081
2	lnc-C12orf61-2	chr12:62671306-62671410	NONHSAT029081
3	lnc-C12orf61-2	chr12:62660954-62661027	NONHSAT029081
4	lnc-C12orf61-2	chr12:62667921-62668082	NONHSAT029081

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	USP15	hsa-miR-149-5p	chr12:62696792-62696814
2	USP15	hsa-miR-222-3p	chr12:62697119-62697139

Variant related genes	Relation type
USP15	TF binding region
RNU6-595P	TF binding region
FAM19A2	TF binding region
USP15	CpG island
RNU6-595P	CpG island
FAM19A2	CpG island
ENSG00000061987	chromatin interactions
ENSG00000200814	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000135655	chromatin interactions

Extended variants
information (count: 4510 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:4510 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549292889	chr12:62657027-62657028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs142439110	chr12:62657029-62657030	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs151334347	chr12:62657091-62657092	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs371775529	chr12:62657109-62657110	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs140068238	chr12:62657121-62657122	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571323259	chr12:62657134-62657135	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs150308997	chr12:62657204-62657205	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs182765212	chr12:62657213-62657214	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147585720	chr12:62657214-62657215	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536529967	chr12:62657218-62657219	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs556846550	chr12:62657234-62657235	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs551061502	chr12:62657243-62657244	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs527942910	chr12:62657287-62657288	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs374932261	chr12:62657295-62657296	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371296963	chr12:62657302-62657303	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576688178	chr12:62657322-62657323	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545164996	chr12:62657362-62657363	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs565148523	chr12:62657427-62657428	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs547669247	chr12:62657464-62657465	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572202136	chr12:62657481-62657482	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs541165467	chr12:62657504-62657505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs556804115	chr12:62657507-62657508	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs561108044	chr12:62657527-62657528	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs188684511	chr12:62657570-62657571	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549928069	chr12:62657595-62657596	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs562767342	chr12:62657606-62657607	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs116773539	chr12:62657611-62657612	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs11612366	chr12:62657666-62657667	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs571514765	chr12:62657682-62657683	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142015975	chr12:62657752-62657753	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs552287270	chr12:62657764-62657765	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs547549392	chr12:62657767-62657768	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375923890	chr12:62657769-62657770	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs567132377	chr12:62657774-62657775	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs545579300	chr12:62657775-62657776	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs145894248	chr12:62657800-62657801	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs555904558	chr12:62657801-62657802	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192526346	chr12:62657809-62657810	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs183256413	chr12:62657824-62657825	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs369989742	chr12:62657837-62657838	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs11174402	chr12:62657838-62657839	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138795243	chr12:62657844-62657845	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs541101976	chr12:62657845-62657846	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs555019086	chr12:62657850-62657851	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs117229229	chr12:62657884-62657885	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs149307413	chr12:62657890-62657891	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs567371322	chr12:62657902-62657903	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs563535232	chr12:62657903-62657904	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs531635709	chr12:62657952-62657953	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188134818	chr12:62657974-62657975	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3380 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62652200-62657600	Active TSS	GM12878-XiMat	blood
2	chr12:62654800-62660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62655000-62657400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr12:62655000-62657600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:62655000-62657800	Weak transcription	Gastric	stomach
6	chr12:62655000-62659400	Weak transcription	Esophagus	oesophagus
7	chr12:62655000-62663400	Weak transcription	Lung	lung
8	chr12:62655200-62657200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr12:62655200-62657600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:62655200-62658400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:62655400-62657800	Enhancers	Fetal Brain Male	brain
12	chr12:62655400-62658200	Enhancers	Colon Smooth Muscle	Colon
13	chr12:62655400-62660800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:62655400-62685600	Weak transcription	HSMM	muscle
15	chr12:62655600-62661400	Weak transcription	NH-A	brain
16	chr12:62655800-62657200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:62655800-62657200	Enhancers	NHEK	skin
18	chr12:62655800-62657400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:62655800-62658400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:62655800-62659400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:62655800-62661200	Weak transcription	Osteobl	bone
22	chr12:62656000-62657400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:62656000-62657400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:62656000-62657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:62656000-62657800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:62656000-62657800	Weak transcription	Colonic Mucosa	Colon
27	chr12:62656000-62657800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:62656000-62658200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:62656000-62658800	Weak transcription	Brain Substantia Nigra	brain
30	chr12:62656000-62660800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:62656000-62661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:62656000-62661200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:62656000-62661400	Weak transcription	Stomach Mucosa	stomach
34	chr12:62656000-62662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:62656000-62663200	Weak transcription	Placenta	Placenta
36	chr12:62656000-62664800	Weak transcription	Fetal Stomach	stomach
37	chr12:62656000-62665400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
39	chr12:62656200-62657400	Enhancers	Fetal Heart	heart
40	chr12:62656200-62657800	Weak transcription	Fetal Thymus	thymus
41	chr12:62656200-62657800	Weak transcription	Spleen	Spleen
42	chr12:62656200-62658000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:62656200-62659800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:62656200-62661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:62656200-62661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:62656400-62657200	Weak transcription	A549	lung
47	chr12:62656400-62657800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:62656400-62658000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr12:62656400-62658200	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr12:62656400-62661200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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