Variant report

Variant	nsv899546
Chromosome Location	chr12:118515230-118563982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:969)
CpG islands
(count:671)
Chromatin interactive
region (count:41)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118562226-118562856	HepG2	liver:	n/a	chr12:118562642-118562658
2	ARID3A	chr12:118558507-118558922	K562	blood:	n/a	n/a
3	ARID3A	chr12:118558756-118559264	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:118563823-118564175	HepG2	liver:	n/a	n/a
5	ATF2	chr12:118557184-118557829	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:118557302-118557844	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:118558357-118559116	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:118541814-118542344	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:118558738-118558764	K562	blood:	n/a	n/a
10	BACH1	chr12:118553810-118553899	K562	blood:	n/a	n/a
11	BCL3	chr12:118541182-118541904	A549	lung:	n/a	chr12:118541198-118541211 chr12:118541680-118541693
12	BHLHE40	chr12:118523032-118523332	K562	blood:	n/a	chr12:118523188-118523201
13	BHLHE40	chr12:118540927-118541296	GM12878	blood:	n/a	chr12:118541198-118541214
14	BHLHE40	chr12:118553765-118553819	K562	blood:	n/a	n/a
15	BHLHE40	chr12:118558392-118558763	K562	blood:	n/a	n/a
16	BRCA1	chr12:118541655-118541768	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr12:118552771-118553322	HCT-116	colon:	n/a	n/a
18	CCNT2	chr12:118541453-118542116	K562	blood:	n/a	chr12:118541719-118541728
19	CEBPB	chr12:118557307-118557880	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr12:118558760-118559180	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:118539886-118539922	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:118539743-118540392	Hela-S3	cervix:	n/a	chr12:118539865-118539876
23	CEBPB	chr12:118520716-118520912	A549	lung:	n/a	n/a
24	CEBPB	chr12:118546099-118546299	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:118539737-118540443	MCF-7	breast:	n/a	chr12:118539865-118539876
26	CEBPB	chr12:118525042-118525069	HepG2	liver:	n/a	chr12:118525050-118525061
27	CEBPB	chr12:118540763-118542351	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr12:118541548-118541978	HepG2	liver:	n/a	n/a
29	CEBPZ	chr12:118562409-118562713	HepG2	liver:	n/a	n/a
30	CHD1	chr12:118558139-118559281	H1-hESC	embryonic stem cell:	n/a	chr12:118558817-118558827
31	CHD1	chr12:118540672-118541676	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr12:118560005-118560034	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:118558701-118558986	Hela-S3	cervix:	n/a	chr12:118558817-118558827
34	CHD2	chr12:118541902-118542029	HepG2	liver:	n/a	n/a
35	CHD2	chr12:118540915-118542346	Hela-S3	cervix:	n/a	chr12:118541717-118541727
36	CHD2	chr12:118557431-118557683	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr12:118541601-118541627	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr12:118542242-118542442	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr12:118539906-118540329	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr12:118541029-118542250	A549	lung:	n/a	n/a
41	CTBP2	chr12:118541112-118542192	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr12:118558800-118558950	HFF-Myc	foreskin:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
43	CTCF	chr12:118527479-118527672	K562	blood:	n/a	n/a
44	CTCF	chr12:118558820-118558970	NB4	blood:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
45	CTCF	chr12:118558685-118559056	K562	blood:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
46	CTCF	chr12:118558800-118558950	RPTEC	kidney:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
47	CTCF	chr12:118558720-118558870	A549	lung:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
48	CTCF	chr12:118558698-118559048	HepG2	liver:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860
49	CTCF	chr12:118557480-118557630	A549	lung:	n/a	n/a
50	CTCF	chr12:118558780-118558930	GM12869	blood:	n/a	chr12:118558844-118558862 chr12:118558846-118558867 chr12:118558849-118558859 chr12:118558845-118558861 chr12:118558847-118558860

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118541585-118541635	IMR90	lung:	fetal
2	chr12:118541722-118541772	BE2_C	brain:	n/a
3	chr12:118541722-118541772	SK-N-SH_RA	brain:	n/a
4	chr12:118541247-118541297	Caco-2	colon:	n/a
5	chr12:118537229-118537279	PrEC	prostate:	n/a
6	chr12:118541851-118541901	AoSMC	blood vessel:	n/a
7	chr12:118541585-118541635	Hela-S3	cervix:	n/a
8	chr12:118542027-118542077	T-47D	breast:	n/a
9	chr12:118546039-118546089	HepG2	liver:	n/a
10	chr12:118537229-118537279	Caco-2	colon:	n/a
11	chr12:118541722-118541772	NH-A	brain:	n/a
12	chr12:118540222-118540272	HRE	kidney:	n/a
13	chr12:118542027-118542077	SK-N-SH_RA	brain:	n/a
14	chr12:118541247-118541297	SKMC	muscle:	n/a
15	chr12:118541298-118541348	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:118542069-118542119	SAEC	small airway:	n/a
17	chr12:118541851-118541901	Hepatocyte	liver:	n/a
18	chr12:118542027-118542077	HepG2	liver:	n/a
19	chr12:118541731-118541781	IMR90	lung:	fetal
20	chr12:118541247-118541297	HCT-116	colon:	n/a
21	chr12:118541851-118541901	H1-hESC	embryonic stem cell:	embryo
22	chr12:118541851-118541901	HRE	kidney:	n/a
23	chr12:118541722-118541772	AG09319	gingival:	n/a
24	chr12:118541585-118541635	AG09309	skin:	n/a
25	chr12:118541298-118541348	BE2_C	brain:	n/a
26	chr12:118546039-118546089	PANC-1	pancreas:	n/a
27	chr12:118541585-118541635	H1-hESC	embryonic stem cell:	embryo
28	chr12:118541731-118541781	ECC-1	luminal epithelium:	n/a
29	chr12:118546039-118546089	HCPEpiC	choroid plexus:	n/a
30	chr12:118542069-118542119	PFSK-1	brain:	n/a
31	chr12:118541731-118541781	AG09309	skin:	n/a
32	chr12:118542069-118542119	U87	brain:	n/a
33	chr12:118541731-118541781	GM12892	blood:	n/a
34	chr12:118541585-118541635	U87	brain:	n/a
35	chr12:118541851-118541901	PFSK-1	brain:	n/a
36	chr12:118541247-118541297	HUVEC	blood vessel:	n/a
37	chr12:118541585-118541635	HCF	heart:	n/a
38	chr12:118540222-118540272	PrEC	prostate:	n/a
39	chr12:118541722-118541772	PFSK-1	brain:	n/a
40	chr12:118542069-118542119	CMK	blood:	n/a
41	chr12:118537229-118537279	AG09309	skin:	n/a
42	chr12:118541585-118541635	T-47D	breast:	n/a
43	chr12:118541585-118541635	Jurkat	blood:	n/a
44	chr12:118542069-118542119	GM12892	blood:	n/a
45	chr12:118540222-118540272	MCF-7	breast:	n/a
46	chr12:118546039-118546089	NHDF-neo	bronchial:	n/a
47	chr12:118546039-118546089	MCF-7	breast:	n/a
48	chr12:118541722-118541772	ProgFib	skin:	n/a
49	chr12:118541298-118541348	Jurkat	blood:	n/a
50	chr12:118541731-118541781	U87	brain:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118515190..118516859-chr12:118518288..118520974,2	K562	blood:
2	chr12:118558384..118559345-chr12:118813588..118814202,2	MCF-7	breast:
3	chr12:118492994..118495394-chr12:118535946..118537983,2	MCF-7	breast:
4	chr12:118557350..118559971-chr12:118562643..118564283,2	MCF-7	breast:
5	chr12:118498692..118501195-chr12:118558625..118560440,2	MCF-7	breast:
6	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:
7	chr12:118536275..118537815-chr12:118538077..118540227,2	MCF-7	breast:
8	chr12:118526226..118529147-chr12:118529412..118532187,2	MCF-7	breast:
9	chr12:118533326..118537455-chr12:118538415..118542334,4	K562	blood:
10	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
11	chr12:118536275..118537815-chr12:118538077..118540227,2	MCF-7	breast:
12	chr12:118500895..118502503-chr12:118521704..118523739,2	K562	blood:
13	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
14	chr12:118497362..118500153-chr12:118516906..118518757,2	MCF-7	breast:
15	chr12:51157194..51157900-chr12:118541616..118542435,2	Hela-S3	cervix:
16	chr12:118526226..118529147-chr12:118529412..118532187,2	MCF-7	breast:
17	chr12:118538419..118540104-chr12:118573597..118576258,3	MCF-7	breast:
18	chr12:118545199..118547694-chr12:118551090..118555131,3	K562	blood:
19	chr12:118500316..118502003-chr12:118542187..118545128,2	K562	blood:
20	chr12:118498337..118500020-chr12:118515700..118517316,2	MCF-7	breast:
21	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
22	chr12:118497477..118500466-chr12:118559121..118561956,3	MCF-7	breast:
23	chr1:149224611..149226792-chr12:118554128..118555649,2	MCF-7	breast:
24	chr12:117627165..117629540-chr12:118540302..118543294,2	MCF-7	breast:
25	chr12:118562530..118565335-chr12:118572091..118573836,2	MCF-7	breast:
26	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
27	chr12:118500782..118503248-chr12:118527475..118529536,2	K562	blood:
28	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
29	chr12:118498174..118502198-chr12:118525626..118528762,4	MCF-7	breast:
30	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
31	chr12:118498007..118499549-chr12:118515723..118517306,2	K562	blood:
32	chr12:118535048..118536839-chr12:118572300..118574306,2	MCF-7	breast:
33	chr12:118557240..118558785-chr12:118573581..118575509,2	K562	blood:
34	chr12:118558538..118559185-chr12:118813580..118814462,3	K562	blood:
35	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
36	chr12:118540247..118543353-chr12:118543560..118547055,4	MCF-7	breast:
37	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
38	chr12:118499929..118502822-chr12:118546043..118548082,2	K562	blood:
39	chr1:202857759..202858556-chr12:118541187..118542115,2	HCT-116	colon:
40	chr12:118497552..118500516-chr12:118531780..118533392,2	MCF-7	breast:
41	chr12:118545199..118547694-chr12:118551090..118555131,3	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-1	chr12:118553619-118555687	XLOC_010212
2	lnc-PEBP1-1	chr12:118550650-118552379	NONHSAT031024
3	lnc-TAOK3-1	chr12:118558834-118558922	NONHSAT031025
4	lnc-TAOK3-1	chr12:118552165-118555687	NONHSAT031026
5	lnc-TAOK3-1	chr12:118558838-118558980	NONHSAT031026
6	lnc-TAOK3-1	chr12:118540794-118540861	NONHSAT031023
7	lnc-TAOK3-1	chr12:118539705-118540072	NONHSAT031023
8	lnc-WSB2-3	chr12:118516370-118516689	ucscGeneNc_uc001txf_2
9	lnc-TAOK3-1	chr12:118559306-118559423	XLOC_010212
10	lnc-WSB2-4	chr12:118519957-118520083	NONHSAT031018
11	lnc-TAOK3-1	chr12:118555475-118555687	XLOC_010212
12	lnc-TAOK3-1	chr12:118552155-118552217	NONHSAT031025
13	lnc-WSB2-4	chr12:118517259-118517411	NONHSAT031018
14	lnc-TAOK3-1	chr12:118539412-118540975	NONHSAT031022
15	lnc-TAOK3-1	chr12:118555454-118555687	NONHSAT031025
16	lnc-TAOK3-1	chr12:118554841-118554844	NONHSAT031025
17	lnc-TAOK3-1	chr12:118541398-118541810	NONHSAT031022
18	lnc-TAOK3-1	chr12:118552165-118555687	NONHSAT031027
19	lnc-TAOK3-1	chr12:118555262-118555687	XLOC_010212
20	lnc-TAOK3-1	chr12:118558834-118558929	XLOC_010212
21	lnc-TAOK3-1	chr12:118559306-118559423	XLOC_010212
22	lnc-TAOK3-1	chr12:118558838-118558980	XLOC_010212
23	lnc-TAOK3-1	chr12:118558838-118558980	XLOC_010212
24	lnc-TAOK3-1	chr12:118555418-118555687	XLOC_010212
25	lnc-TAOK3-1	chr12:118553516-118555687	XLOC_010212
26	lnc-TAOK3-1	chr12:118553516-118555687	XLOC_010212

No data

Variant related genes	Relation type
VSIG10	TF binding region
VSIG10	CpG island
ENSG00000176871	chromatin interactions
ENSG00000183155	chromatin interactions
ENSG00000089220	chromatin interactions
ENSG00000135108	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000270482	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000123268	chromatin interactions
BICD2	miRNA target sites
PDIK1L	miRNA target sites
ROD1	miRNA target sites

Extended variants
information (count: 1901 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11068807	chr12:118515230-118515231	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188392158	chr12:118515240-118515241	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577799026	chr12:118515261-118515262	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375368152	chr12:118515282-118515283	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568718700	chr12:118515300-118515301	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139962256	chr12:118515355-118515356	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192837615	chr12:118515358-118515359	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76395475	chr12:118515419-118515420	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557650965	chr12:118515450-118515451	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144972373	chr12:118515460-118515461	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369958796	chr12:118515514-118515515	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74624974	chr12:118515520-118515521	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368630323	chr12:118515554-118515555	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553425212	chr12:118515565-118515566	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573306587	chr12:118515572-118515573	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542350094	chr12:118515632-118515633	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562224004	chr12:118515651-118515652	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575926575	chr12:118515652-118515653	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184138309	chr12:118515670-118515671	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564655686	chr12:118515689-118515690	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532931829	chr12:118515721-118515722	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553131517	chr12:118515727-118515728	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186649226	chr12:118515744-118515745	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12297488	chr12:118515798-118515799	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528915499	chr12:118515807-118515808	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548683727	chr12:118515841-118515842	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191401965	chr12:118515866-118515867	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147927248	chr12:118515893-118515894	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140090875	chr12:118515898-118515899	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs571493099	chr12:118515906-118515907	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184636619	chr12:118515919-118515920	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190486472	chr12:118515965-118515966	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567164623	chr12:118516025-118516026	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566883674	chr12:118516026-118516027	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532622032	chr12:118516027-118516028	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113471679	chr12:118516033-118516034	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565000020	chr12:118516049-118516050	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11068809	chr12:118516054-118516055	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544558409	chr12:118516066-118516067	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558421990	chr12:118516078-118516079	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561157103	chr12:118516113-118516114	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs578146770	chr12:118516121-118516122	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149128491	chr12:118516135-118516136	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559858949	chr12:118516136-118516137	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529162381	chr12:118516141-118516142	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552462651	chr12:118516177-118516178	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542291693	chr12:118516189-118516190	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562275860	chr12:118516232-118516233	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs531394176	chr12:118516249-118516250	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs116388572	chr12:118516262-118516263	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118515400	Weak transcription	Gastric	stomach
2	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
3	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
5	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
6	chr12:118500800-118526400	Weak transcription	HMEC	breast
7	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
9	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:118501000-118515400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:118501000-118515400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
13	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
15	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
19	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
20	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:118501000-118540800	Weak transcription	NH-A	brain
22	chr12:118501200-118515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:118501200-118516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:118501200-118526400	Weak transcription	Small Intestine	intestine
25	chr12:118501200-118536000	Weak transcription	Right Atrium	heart
26	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain
27	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
29	chr12:118501600-118519800	Weak transcription	Fetal Brain Male	brain
30	chr12:118501600-118540400	Weak transcription	NHLF	lung
31	chr12:118501800-118527000	Weak transcription	NHEK	skin
32	chr12:118501800-118533200	Weak transcription	Hela-S3	cervix
33	chr12:118502000-118515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:118502000-118515600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:118502200-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:118502200-118540800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:118502400-118515400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:118502600-118536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:118503200-118519200	Weak transcription	HepG2	liver
40	chr12:118503200-118521800	Weak transcription	Stomach Mucosa	stomach
41	chr12:118503600-118520600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:118504000-118517000	Weak transcription	Dnd41	blood
43	chr12:118506200-118517600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:118506400-118515400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:118508800-118515400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:118509000-118538400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:118509200-118528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:118509400-118515400	Weak transcription	Ovary	ovary
49	chr12:118509400-118528800	Weak transcription	NHDF-Ad	bronchial
50	chr12:118510400-118518000	Weak transcription	Fetal Kidney	kidney

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