Variant report

Variant	nsv559013
Chromosome Location	chr12:56551249-56556389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1163)
CpG islands
(count:855)
Chromatin interactive
region (count:81)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:56551510-56552276	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:56551975-56552754	K562	blood:	n/a	n/a
3	ATF1	chr12:56551911-56552624	K562	blood:	n/a	n/a
4	ATF2	chr12:56554476-56556118	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:56551368-56551760	GM12878	blood:	n/a	n/a
6	ATF2	chr12:56551843-56553050	GM12878	blood:	n/a	n/a
7	ATF2	chr12:56553723-56555130	GM12878	blood:	n/a	n/a
8	ATF2	chr12:56551044-56553366	GM12878	blood:	n/a	n/a
9	ATF2	chr12:56556196-56557044	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr12:56556186-56557137	GM12878	blood:	n/a	n/a
11	ATF2	chr12:56551944-56558065	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr12:56554061-56554534	GM12878	blood:	n/a	n/a
13	ATF2	chr12:56556114-56556460	GM12878	blood:	n/a	n/a
14	ATF2	chr12:56551907-56553933	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr12:56551023-56551836	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr12:56551287-56551895	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr12:56551344-56551888	A549	lung:	n/a	n/a
18	ATF3	chr12:56551965-56552368	A549	lung:	n/a	chr12:56552096-56552106 chr12:56552093-56552104 chr12:56552093-56552106 chr12:56552094-56552105 chr12:56552092-56552103 chr12:56552096-56552106 chr12:56552095-56552115 chr12:56552095-56552106 chr12:56552094-56552107 chr12:56552095-56552103 chr12:56552094-56552105 chr12:56552096-56552107 chr12:56552092-56552107 chr12:56552096-56552103 chr12:56552093-56552106 chr12:56552096-56552104
19	ATF3	chr12:56551921-56552350	K562	blood:	n/a	chr12:56552096-56552106 chr12:56552093-56552104 chr12:56552093-56552106 chr12:56552094-56552105 chr12:56552092-56552103 chr12:56552096-56552106 chr12:56552095-56552115 chr12:56552095-56552106 chr12:56552094-56552107 chr12:56552095-56552103 chr12:56552094-56552105 chr12:56552096-56552107 chr12:56552092-56552107 chr12:56552096-56552103 chr12:56552093-56552106 chr12:56552096-56552104
20	BACH1	chr12:56551431-56551781	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr12:56551975-56552227	GM12878	blood:	n/a	chr12:56552093-56552106
22	BATF	chr12:56551955-56552300	GM12878	blood:	n/a	chr12:56552093-56552106
23	BCL11A	chr12:56552148-56552494	GM12878	blood:	n/a	n/a
24	BCL3	chr12:56551865-56552571	GM12878	blood:	n/a	n/a
25	BCL3	chr12:56551308-56551850	GM12878	blood:	n/a	n/a
26	BCL3	chr12:56556212-56556540	GM12878	blood:	n/a	n/a
27	BCL3	chr12:56554796-56555244	GM12878	blood:	n/a	n/a
28	BCL3	chr12:56554569-56555486	A549	lung:	n/a	n/a
29	BCL3	chr12:56553704-56554116	GM12878	blood:	n/a	n/a
30	BCL3	chr12:56551316-56554188	A549	lung:	n/a	chr12:56553213-56553222 chr12:56552652-56552661 chr12:56554170-56554179
31	BCL3	chr12:56551157-56556978	A549	lung:	n/a	chr12:56553213-56553222 chr12:56554315-56554324 chr12:56552652-56552661 chr12:56554170-56554179
32	BCL3	chr12:56554195-56554578	GM12878	blood:	n/a	chr12:56554315-56554324
33	BCL3	chr12:56552624-56553646	GM12878	blood:	n/a	chr12:56553213-56553222 chr12:56552652-56552661
34	BCLAF1	chr12:56555663-56556029	GM12878	blood:	n/a	n/a
35	BCLAF1	chr12:56554196-56554826	GM12878	blood:	n/a	chr12:56554315-56554324
36	BCLAF1	chr12:56551949-56554159	GM12878	blood:	n/a	chr12:56553213-56553222 chr12:56552652-56552661
37	BCLAF1	chr12:56550963-56551421	GM12878	blood:	n/a	n/a
38	BCLAF1	chr12:56556286-56557113	GM12878	blood:	n/a	n/a
39	BCLAF1	chr12:56551940-56553324	GM12878	blood:	n/a	chr12:56553213-56553222 chr12:56552652-56552661
40	BHLHE40	chr12:56551480-56552543	GM12878	blood:	n/a	n/a
41	BHLHE40	chr12:56551500-56553100	K562	blood:	n/a	n/a
42	BRCA1	chr12:56551955-56552310	HepG2	liver:	n/a	n/a
43	BRCA1	chr12:56551537-56552650	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr12:56552021-56552561	GM12878	blood:	n/a	n/a
45	BRCA1	chr12:56553098-56553191	HepG2	liver:	n/a	n/a
46	BRCA1	chr12:56552004-56552514	H1-hESC	embryonic stem cell:	n/a	n/a
47	CBX3	chr12:56551461-56552742	K562	blood:	n/a	n/a
48	CCNT2	chr12:56551365-56551730	K562	blood:	n/a	n/a
49	CCNT2	chr12:56552056-56552749	K562	blood:	n/a	n/a
50	CCNT2	chr12:56553816-56553996	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56552132-56552182	NHBE	bronchial:	n/a
2	chr12:56552132-56552182	NHBE	bronchial:	n/a
3	chr12:56555325-56555375	HCPEpiC	choroid plexus:	n/a
4	chr12:56556339-56556389	HCT-116	colon:	n/a
5	chr12:56552132-56552182	K562	blood:	n/a
6	chr12:56554439-56554489	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:56555325-56555375	GM12878	blood:	n/a
8	chr12:56552132-56552182	HRPEpiC	eye:	n/a
9	chr12:56551637-56551687	NB4	blood:	n/a
10	chr12:56556339-56556389	GM19239	blood:	n/a
11	chr12:56552110-56552160	ovcar-3	ovarian:	n/a
12	chr12:56552019-56552069	PANC-1	pancreas:	n/a
13	chr12:56552067-56552117	T-47D	breast:	n/a
14	chr12:56554439-56554489	GM12892	blood:	n/a
15	chr12:56552067-56552117	Hepatocyte	liver:	n/a
16	chr12:56552067-56552117	BE2_C	brain:	n/a
17	chr12:56551679-56551729	AG04449	skin:	fetal
18	chr12:56554264-56554314	MCF-7	breast:	n/a
19	chr12:56551679-56551729	LNCaP	prostate:	n/a
20	chr12:56552046-56552096	AG09309	skin:	n/a
21	chr12:56554439-56554489	SAEC	small airway:	n/a
22	chr12:56551679-56551729	AG09309	skin:	n/a
23	chr12:56554264-56554314	LNCaP	prostate:	n/a
24	chr12:56551637-56551687	HEK293	kidney:	embryo
25	chr12:56555325-56555375	GM06990	blood:	n/a
26	chr12:56551679-56551729	HEK293	kidney:	embryo
27	chr12:56552046-56552096	GM12891	blood:	n/a
28	chr12:56551398-56551448	H1-hESC	embryonic stem cell:	embryo
29	chr12:56551398-56551448	ovcar-3	ovarian:	n/a
30	chr12:56552019-56552069	Jurkat	blood:	n/a
31	chr12:56554439-56554489	ProgFib	skin:	n/a
32	chr12:56554264-56554314	H1-hESC	embryonic stem cell:	embryo
33	chr12:56555325-56555375	AG04450	lung:	fetal
34	chr12:56551398-56551448	HCT-116	colon:	n/a
35	chr12:56555325-56555375	BJ	skin:	n/a
36	chr12:56552067-56552117	AG09309	skin:	n/a
37	chr12:56552019-56552069	T-47D	breast:	n/a
38	chr12:56552019-56552069	BJ	skin:	n/a
39	chr12:56551398-56551448	AG04450	lung:	fetal
40	chr12:56554264-56554314	AoSMC	blood vessel:	n/a
41	chr12:56551637-56551687	BJ	skin:	n/a
42	chr12:56552019-56552069	HNPCEpiC	eye:	n/a
43	chr12:56551994-56552044	U87	brain:	n/a
44	chr12:56551642-56551692	AG10803	skin:	n/a
45	chr12:56555325-56555375	SAEC	small airway:	n/a
46	chr12:56555325-56555375	HEK293	kidney:	embryo
47	chr12:56551679-56551729	Hepatocyte	liver:	n/a
48	chr12:56556339-56556389	AG09309	skin:	n/a
49	chr12:56554439-56554489	NT2-D1	testis:	n/a
50	chr12:56554264-56554314	PrEC	prostate:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:233463379..233463908-chr12:56551940..56552609,2	Hela-S3	cervix:
2	chr12:56551784..56552504-chr2:25194556..25195403,2	Hela-S3	cervix:
3	chr11:82996671..82997589-chr12:56552142..56552833,2	Hela-S3	cervix:
4	chr12:56554308..56556384-chr12:56600666..56602668,2	K562	blood:
5	chr12:56497819..56500036-chr12:56550546..56554351,4	MCF-7	breast:
6	chr12:56551814..56552599-chr5:130506602..130507176,2	NB4	blood:
7	chr12:56473103..56475967-chr12:56549779..56553082,5	MCF-7	breast:
8	chr12:56551464..56551970-chr12:56582916..56583452,2	K562	blood:
9	chr1:144533652..144534300-chr12:56552105..56553643,4	Hela-S3	cervix:
10	chr12:56108963..56111189-chr12:56554025..56556182,2	MCF-7	breast:
11	chr11:93276206..93276741-chr12:56551625..56552456,2	Hela-S3	cervix:
12	chr12:56552000..56552596-chr12:69978646..69979584,2	Hela-S3	cervix:
13	chr12:56531568..56534983-chr12:56550075..56554520,6	MCF-7	breast:
14	chr12:56552225..56553095-chr6:89789379..89790360,2	Hela-S3	cervix:
15	chr12:56209755..56212447-chr12:56551879..56553739,2	MCF-7	breast:
16	chr1:100503008..100503955-chr12:56551709..56552540,2	Hela-S3	cervix:
17	chr12:56551311..56554280-chr12:56613250..56616267,3	MCF-7	breast:
18	chr12:56551553..56552076-chr12:69004382..69005116,2	Hela-S3	cervix:
19	chr12:56552067..56552694-chr17:73775414..73776209,2	Hela-S3	cervix:
20	chr12:56475818..56478694-chr12:56550865..56553540,2	MCF-7	breast:
21	chr12:56552002..56552652-chr17:27181739..27182412,2	Hela-S3	cervix:
22	chr1:171711044..171711901-chr12:56552077..56552933,3	Hela-S3	cervix:
23	chr12:56551520..56554242-chr12:56650975..56653538,2	MCF-7	breast:
24	chr12:56551925..56552499-chr16:66730087..66730898,2	Hela-S3	cervix:
25	chr12:56551419..56552000-chr5:41870278..41870895,2	Hela-S3	cervix:
26	chr12:56536501..56538802-chr12:56552198..56554579,2	MCF-7	breast:
27	chr12:56549935..56553580-chr12:56615062..56619140,6	MCF-7	breast:
28	chr12:56434092..56435829-chr12:56551661..56553282,2	K562	blood:
29	chr12:56516279..56526040-chr12:56550254..56554953,37	MCF-7	breast:
30	chr12:56551630..56552606-chr15:65596629..65597325,3	Hela-S3	cervix:
31	chr12:56551774..56552533-chr7:5569851..5571111,3	Hela-S3	cervix:
32	chr12:56552187..56553182-chr6:74230104..74231036,2	Hela-S3	cervix:
33	chr12:56551518..56552159-chr12:56582778..56583751,4	MCF-7	breast:
34	chr12:56555575..56559799-chr12:56572215..56575124,4	MCF-7	breast:
35	chr12:53843995..53846384-chr12:56551140..56553594,2	MCF-7	breast:
36	chr12:56434374..56437071-chr12:56550642..56553636,4	MCF-7	breast:
37	chr12:56551653..56553251-chr6:27776259..27779166,2	MCF-7	breast:
38	chr12:56552406..56553057-chr16:89988913..89989513,2	Hela-S3	cervix:
39	chr12:56550178..56557145-chr12:56575233..56584234,22	MCF-7	breast:
40	chr12:56551529..56552322-chr2:37458364..37459177,2	Hela-S3	cervix:
41	chr1:180991460..180992148-chr12:56552600..56553325,2	Hela-S3	cervix:
42	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
43	chr12:56549752..56553222-chr12:56691115..56694737,3	K562	blood:
44	chr12:56552243..56552906-chr15:74908074..74908878,2	Hela-S3	cervix:
45	chr12:56551805..56552522-chr13:77600819..77601817,2	Hela-S3	cervix:
46	chr1:954847..956980-chr12:56550477..56552880,2	MCF-7	breast:
47	chr12:56551928..56552436-chr6:27777445..27778057,2	Hela-S3	cervix:
48	chr12:56434567..56436421-chr12:56551645..56554362,3	MCF-7	breast:
49	chr12:56519569..56524417-chr12:56555136..56559386,7	MCF-7	breast:
50	chr12:56552050..56552857-chrX:53710656..53711232,2	Hela-S3	cervix:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCC2-2	chr12:56551967-56552004	ENSG00000257809.1
2	lnc-MYL6-1	chr12:56551666-56551765	NONHSAT028782
3	lnc-SMARCC2-2	chr12:56551418-56551729	ENSG00000257809.1
4	lnc-MYL6-1	chr12:56551399-56551519	NONHSAT028782
5	lnc-MYL6-2	chr12:56555565-56556115	NONHSAT028784
6	lnc-SMARCC2-1	chr12:56556143-56556333	ENSG00000258199.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MYL6	hsa-miR-106b-5p	chr12:56555272-56555295
2	SMARCC2	hsa-miR-186-5p	chr12:56556178-56556199
3	SMARCC2	hsa-miR-186-5p	chr12:56556186-56556207
4	SMARCC2	hsa-miR-92b-3p	chr12:56555743-56555764

Variant related genes	Relation type
MYL6B	TF binding region
MYL6	TF binding region
ENSG00000257809	TF binding region
MYL6B	CpG island
MYL6	CpG island
ENSG00000257809	CpG island
ENSG00000170515	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000135823	chromatin interactions
ENSG00000179335	chromatin interactions
ENSG00000086758	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000258311	chromatin interactions
ENSG00000166226	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000258199	chromatin interactions
ENSG00000197111	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000123353	chromatin interactions
ENSG00000183723	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000143674	chromatin interactions
ENSG00000154889	chromatin interactions
ENSG00000156875	chromatin interactions
ENSG00000173065	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000139645	chromatin interactions
ENSG00000135392	chromatin interactions
ENSG00000205323	chromatin interactions
ENSG00000258345	chromatin interactions
ENSG00000224165	chromatin interactions
ENSG00000125746	chromatin interactions
ENSG00000164649	chromatin interactions
ENSG00000273141	chromatin interactions
ENSG00000127314	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000005812	chromatin interactions
ENSG00000135469	chromatin interactions
ENSG00000136813	chromatin interactions
ENSG00000117533	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000166002	chromatin interactions
ENSG00000271746	chromatin interactions
ENSG00000258317	chromatin interactions
ENSG00000116539	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000131507	chromatin interactions
ENSG00000269089	chromatin interactions
ENSG00000139579	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000241962	chromatin interactions
ENSG00000257499	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000181852	chromatin interactions
ENSG00000188157	chromatin interactions
ENSG00000167996	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000132591	chromatin interactions
ENSG00000257303	chromatin interactions
ENSG00000135441	chromatin interactions
ENSG00000139613	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000185414	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000003509	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000135404	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000062485	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000186687	chromatin interactions
ENSG00000097021	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000135424	chromatin interactions
ENSG00000115816	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112598321	chr12:56551249-56551250	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
2	rs113287483	chr12:56551250-56551251	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs139194953	chr12:56551264-56551265	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs199563517	chr12:56551267-56551268	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
5	rs142496281	chr12:56551268-56551269	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs368259947	chr12:56551291-56551292	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
7	rs3841624	chr12:56551337-56551338	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs565455550	chr12:56551339-56551340	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs28365930	chr12:56551340-56551341	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
10	rs559722587	chr12:56551344-56551345	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs398019701	chr12:56551345-56551346	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs145342806	chr12:56551356-56551357	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs372832608	chr12:56551359-56551360	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs530105904	chr12:56551381-56551382	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
15	rs542296035	chr12:56551403-56551404	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
16	rs563801776	chr12:56551412-56551413	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
17	rs74092004	chr12:56551439-56551440	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201204608	chr12:56551440-56551441	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
19	rs200934038	chr12:56551443-56551444	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
20	rs528785340	chr12:56551462-56551463	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
21	rs200010254	chr12:56551465-56551466	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
22	rs113437778	chr12:56551480-56551481	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
23	rs17850911	chr12:56551507-56551508	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
24	rs368530762	chr12:56551513-56551514	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
25	rs34270420	chr12:56551522-56551523	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
26	rs371818155	chr12:56551523-56551524	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
27	rs201901796	chr12:56551537-56551538	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
28	rs372394940	chr12:56551540-56551541	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
29	rs192466507	chr12:56551552-56551553	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
30	rs527920569	chr12:56551616-56551617	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
31	rs113767936	chr12:56551626-56551627	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a
32	rs556615894	chr12:56551631-56551632	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
33	rs555211252	chr12:56551653-56551654	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
34	rs568657003	chr12:56551659-56551660	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
35	rs539237045	chr12:56551661-56551662	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
36	rs547690907	chr12:56551750-56551751	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
37	rs573004192	chr12:56551760-56551761	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
38	rs184563439	chr12:56551886-56551887	Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
39	rs555411218	chr12:56551890-56551891	Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
40	rs574755530	chr12:56551909-56551910	Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
41	rs113069280	chr12:56551919-56551920	Active TSS	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
42	rs542292934	chr12:56551920-56551921	Active TSS	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
43	rs563764127	chr12:56551925-56551926	Active TSS	TF binding region Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
44	rs56119169	chr12:56551937-56551938	Active TSS	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	mRNA abundance
45	rs530334424	chr12:56551975-56551976	Active TSS	TF binding region Chromatin interactive region lncRNA	55 gene(s)	Overlapped CNVs	n/a
46	rs181432901	chr12:56551977-56551978	Active TSS	TF binding region Chromatin interactive region lncRNA	55 gene(s)	Overlapped CNVs	n/a
47	rs528745550	chr12:56552101-56552102	Active TSS	TF binding region CpG island Chromatin interactive region	65 gene(s)	Overlapped CNVs	n/a
48	rs547255856	chr12:56552108-56552109	Active TSS	TF binding region CpG island Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a
49	rs562272065	chr12:56552120-56552121	Active TSS	TF binding region CpG island Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a
50	rs528875963	chr12:56552124-56552125	Active TSS	TF binding region CpG island Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Thoracic aortic aneurysm	21092924	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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56547000-56551400	Weak transcription	Small Intestine	intestine
2	chr12:56550600-56551600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:56550600-56551600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:56550600-56552200	Active TSS	Brain Germinal Matrix	brain
5	chr12:56550600-56552400	Active TSS	Fetal Lung	lung
6	chr12:56550600-56553000	Active TSS	GM12878-XiMat	blood
7	chr12:56550600-56553200	Active TSS	Fetal Brain Female	brain
8	chr12:56550800-56551400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:56550800-56551400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:56550800-56551400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr12:56550800-56551400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:56550800-56551400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr12:56550800-56551400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:56550800-56551600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:56550800-56551600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:56550800-56551600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:56550800-56551600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:56550800-56551600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:56550800-56551600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:56550800-56551600	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr12:56550800-56551600	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr12:56550800-56551600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr12:56550800-56551600	Flanking Active TSS	Dnd41	blood
24	chr12:56550800-56551600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:56550800-56551800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr12:56550800-56551800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:56550800-56551800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:56550800-56551800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr12:56550800-56552400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:56550800-56552600	Active TSS	Brain Angular Gyrus	brain
31	chr12:56550800-56552600	Active TSS	Fetal Brain Male	brain
32	chr12:56550800-56553000	Active TSS	Brain Anterior Caudate	brain
33	chr12:56550800-56553200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:56550800-56553200	Active TSS	Fetal Kidney	kidney
35	chr12:56550800-56553200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:56550800-56553200	Active TSS	NHDF-Ad	bronchial
37	chr12:56550800-56553400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:56550800-56553400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:56550800-56553400	Active TSS	Fetal Intestine Large	intestine
40	chr12:56550800-56553600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:56551000-56551400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:56551000-56551400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:56551000-56551400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:56551000-56551400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr12:56551000-56551400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr12:56551000-56551400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:56551000-56551400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr12:56551000-56551400	Flanking Active TSS	Right Atrium	heart
49	chr12:56551000-56551400	Flanking Active TSS	Right Ventricle	heart
50	chr12:56551000-56551400	Flanking Active TSS	Thymus	Thymus

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