Variant report

Variant	nsv559007
Chromosome Location	chr12:56118833-56121194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:183)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr12:56118024-56119418	A549	lung:	n/a	n/a
2	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
3	CTCF	chr12:56117940-56119080	A549	lung:	n/a	n/a
4	CTCF	chr12:56119203-56119484	T-47D	breast:	n/a	n/a
5	CTCF	chr12:56119801-56120094	T-47D	breast:	n/a	n/a
6	CTCF	chr12:56118204-56118996	HCT-116	colon:	n/a	n/a
7	CTCF	chr12:56118920-56119070	HEK293	kidney:	n/a	n/a
8	CTCF	chr12:56118940-56119090	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr12:56118045-56119366	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr12:56118404-56118838	HCT-116	colon:	n/a	n/a
11	CTCF	chr12:56118293-56118841	K562	blood:	n/a	n/a
12	CTCF	chr12:56118294-56118859	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:56120380-56120530	HCPEpiC	choroid plexus:	n/a	n/a
14	EBF1	chr12:56118521-56118894	GM12878	blood:	n/a	chr12:56118871-56118880
15	HCFC1	chr12:56121019-56124496	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr12:56119436-56119652	K562	blood:	n/a	n/a
17	HEY1	chr12:56120947-56121195	K562	blood:	n/a	n/a
18	JUND	chr12:56120419-56120683	K562	blood:	n/a	n/a
19	MAZ	chr12:56121069-56124631	IMR90	lung:	n/a	chr12:56122244-56122254 chr12:56122966-56122975 chr12:56122888-56122897 chr12:56122966-56122976 chr12:56122964-56122977 chr12:56122965-56122976 chr12:56122724-56122734 chr12:56122964-56122977 chr12:56122965-56122975 chr12:56122965-56122975 chr12:56122965-56122976 chr12:56122964-56122977 chr12:56122346-56122356 chr12:56122966-56122976 chr12:56122150-56122160 chr12:56122965-56122976
20	MTA3	chr12:56118181-56119166	GM12878	blood:	n/a	n/a
21	MTA3	chr12:56118442-56118862	GM12878	blood:	n/a	n/a
22	MXI1	chr12:56120957-56124566	IMR90	lung:	n/a	chr12:56122967-56122976 chr12:56122965-56122974 chr12:56122967-56122976 chr12:56122965-56122974
23	MXI1	chr12:56121169-56124795	SK-N-SH	brain:	n/a	chr12:56122967-56122976 chr12:56122965-56122974 chr12:56122967-56122976 chr12:56122965-56122974
24	NFATC1	chr12:56118337-56118838	GM12878	blood:	n/a	n/a
25	NR2F2	chr12:56121192-56122038	K562	blood:	n/a	n/a
26	PML	chr12:56117788-56118988	K562	blood:	n/a	n/a
27	PML	chr12:56117944-56118934	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:56118430-56119255	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:56118796-56119132	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:56119964-56119987	K562	blood:	n/a	n/a
31	POLR2A	chr12:56119430-56119592	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:56117452-56119193	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:56120605-56121224	K562	blood:	n/a	n/a
34	POLR2A	chr12:56117497-56119163	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:56118815-56118842	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr12:56119104-56119117	K562	blood:	n/a	n/a
37	POLR2A	chr12:56117595-56119017	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:56120859-56120940	K562	blood:	n/a	n/a
39	POLR2A	chr12:56116949-56118986	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:56117404-56119110	K562	blood:	n/a	n/a
41	POLR2A	chr12:56116248-56119994	A549	lung:	n/a	n/a
42	POLR2A	chr12:56119497-56119512	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:56119260-56119756	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr12:56120298-56122466	U87	brain:	n/a	n/a
45	POLR2A	chr12:56119093-56119097	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:56117603-56119103	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:56119325-56119623	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:56119500-56119940	K562	blood:	n/a	n/a
49	POLR2A	chr12:56117270-56119151	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr12:56119544-56119559	ProgFib	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56119258-56119308	NHBE	bronchial:	n/a
2	chr12:56121015-56121065	K562	blood:	n/a
3	chr12:56120816-56120866	A549	lung:	n/a
4	chr12:56121015-56121065	Jurkat	blood:	n/a
5	chr12:56120816-56120866	PrEC	prostate:	n/a
6	chr12:56121015-56121065	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:56119258-56119308	Hepatocyte	liver:	n/a
8	chr12:56121015-56121065	HAEpiC	amniotic membrane:	n/a
9	chr12:56120816-56120866	HAEpiC	amniotic membrane:	n/a
10	chr12:56121015-56121065	GM12878	blood:	n/a
11	chr12:56120816-56120866	PANC-1	pancreas:	n/a
12	chr12:56119258-56119308	NHDF-neo	bronchial:	n/a
13	chr12:56121015-56121065	BE2_C	brain:	n/a
14	chr12:56119258-56119308	ProgFib	skin:	n/a
15	chr12:56121015-56121065	NH-A	brain:	n/a
16	chr12:56121015-56121065	HCT-116	colon:	n/a
17	chr12:56120816-56120866	AG04449	skin:	fetal
18	chr12:56121015-56121065	GM12891	blood:	n/a
19	chr12:56121015-56121065	H1-hESC	embryonic stem cell:	embryo
20	chr12:56119258-56119308	K562	blood:	n/a
21	chr12:56119258-56119308	HIPEpiC	eye:	n/a
22	chr12:56121015-56121065	LNCaP	prostate:	n/a
23	chr12:56119258-56119308	LNCaP	prostate:	n/a
24	chr12:56119258-56119308	Hela-S3	cervix:	n/a
25	chr12:56121015-56121065	AG04450	lung:	fetal
26	chr12:56120816-56120866	NHDF-neo	bronchial:	n/a
27	chr12:56121015-56121065	HRPEpiC	eye:	n/a
28	chr12:56120816-56120866	GM06990	blood:	n/a
29	chr12:56120816-56120866	GM12891	blood:	n/a
30	chr12:56120816-56120866	T-47D	breast:	n/a
31	chr12:56121015-56121065	HRCEpiC	kidney:	n/a
32	chr12:56119258-56119308	SK-N-SH_RA	brain:	n/a
33	chr12:56120816-56120866	HCF	heart:	n/a
34	chr12:56119258-56119308	ECC-1	luminal epithelium:	n/a
35	chr12:56121015-56121065	AoSMC	blood vessel:	n/a
36	chr12:56121015-56121065	U87	brain:	n/a
37	chr12:56120816-56120866	HepG2	liver:	n/a
38	chr12:56120816-56120866	SAEC	small airway:	n/a
39	chr12:56121015-56121065	NT2-D1	testis:	n/a
40	chr12:56120816-56120866	HCPEpiC	choroid plexus:	n/a
41	chr12:56121015-56121065	ProgFib	skin:	n/a
42	chr12:56119258-56119308	GM12891	blood:	n/a
43	chr12:56121015-56121065	RPTEC	kidney:	n/a
44	chr12:56120816-56120866	SK-N-SH	brain:	n/a
45	chr12:56121015-56121065	Caco-2	colon:	n/a
46	chr12:56121015-56121065	PrEC	prostate:	n/a
47	chr12:56119258-56119308	A549	lung:	n/a
48	chr12:56121015-56121065	T-47D	breast:	n/a
49	chr12:56120816-56120866	HIPEpiC	eye:	n/a
50	chr12:56119258-56119308	AG09319	gingival:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56120240..56124369-chr12:56508983..56513755,7	K562	blood:
2	chr12:56120093..56124486-chr12:56434488..56437037,3	K562	blood:
3	chr12:56120515..56122201-chr12:56332595..56334238,2	K562	blood:
4	chr12:56121086..56122985-chr12:56327062..56330070,3	MCF-7	breast:
5	chr12:56120734..56123554-chr12:56508983..56512643,4	K562	blood:
6	chr12:56120533..56123958-chr12:56496918..56499602,3	K562	blood:
7	chr12:56075054..56077566-chr12:56115620..56119645,3	MCF-7	breast:
8	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:
9	chr12:56118075..56119434-chr12:56130540..56132004,12	MCF-7	breast:
10	chr12:56120851..56123825-chr12:56659216..56662167,3	K562	blood:
11	chr12:56099553..56102772-chr12:56120884..56124385,4	K562	blood:
12	chr12:56037529..56040108-chr12:56117252..56119317,2	K562	blood:
13	chr12:56118429..56118954-chr12:56190727..56191514,2	K562	blood:
14	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
15	chr12:56120587..56125243-chr12:56320195..56323478,6	MCF-7	breast:
16	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:
17	chr12:56120003..56122736-chr12:56659216..56661326,3	K562	blood:
18	chr12:56118190..56119080-chr12:56130780..56131563,6	MCF-7	breast:
19	chr12:56119392..56124555-chr12:56134719..56139155,10	MCF-7	breast:
20	chr12:56098994..56103683-chr12:56119699..56126107,8	MCF-7	breast:
21	chr12:56104896..56106917-chr12:56120568..56123344,2	MCF-7	breast:
22	chr12:56120864..56122982-chr12:56435772..56437272,2	MCF-7	breast:
23	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
24	chr12:56118355..56119078-chr12:56130717..56131614,5	K562	blood:
25	chr12:56088490..56090282-chr12:56117395..56118988,2	MCF-7	breast:
26	chr12:56119684..56120517-chr7:23338542..23339053,2	NB4	blood:
27	chr12:56120505..56122635-chr12:56345271..56347933,2	K562	blood:
28	chr12:56120591..56123197-chr12:56472700..56474357,3	MCF-7	breast:
29	chr12:56117825..56119634-chr17:57178406..57181247,2	MCF-7	breast:
30	chr12:56120972..56124195-chr12:56135682..56138639,8	MCF-7	breast:

No data

Variant related genes	Relation type
CD63	TF binding region
ENSG00000258056	TF binding region
CD63	CpG island
ENSG00000258056	CpG island
ENSG00000135392	chromatin interactions
ENSG00000135469	chromatin interactions
ENSG00000156928	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000135414	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000135424	chromatin interactions
ENSG00000170515	chromatin interactions
ENSG00000257390	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000258345	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000170439	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3138134	chr12:56118833-56118834	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538939977	chr12:56118913-56118914	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs547596227	chr12:56118914-56118915	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs565890432	chr12:56118958-56118959	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs536361251	chr12:56118964-56118965	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs3138133	chr12:56118965-56118966	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs533641502	chr12:56119011-56119012	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs550216506	chr12:56119020-56119021	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576435326	chr12:56119028-56119029	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537498121	chr12:56119070-56119071	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527394786	chr12:56119077-56119078	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541180342	chr12:56119118-56119119	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs192822211	chr12:56119146-56119147	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs545275721	chr12:56119170-56119171	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112903230	chr12:56119193-56119194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs4759190	chr12:56119244-56119245	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs572237359	chr12:56119251-56119252	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529992950	chr12:56119259-56119260	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373963725	chr12:56119277-56119278	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374793611	chr12:56119282-56119283	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs563710906	chr12:56119291-56119292	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201691826	chr12:56119292-56119293	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs368848583	chr12:56119312-56119313	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs200326274	chr12:56119317-56119318	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs1050043	chr12:56119367-56119368	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs531305760	chr12:56119374-56119375	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs1804041	chr12:56119400-56119401	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs202142593	chr12:56119416-56119417	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs374907334	chr12:56119418-56119419	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs555625457	chr12:56119431-56119432	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs187140382	chr12:56119494-56119495	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs538301707	chr12:56119529-56119530	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs113667760	chr12:56119594-56119595	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs369562487	chr12:56119599-56119600	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs373117647	chr12:56119600-56119601	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs1804040	chr12:56119614-56119615	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs532672007	chr12:56119651-56119652	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs377261058	chr12:56119661-56119662	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs370831325	chr12:56119664-56119665	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs3190232	chr12:56119669-56119670	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs111658364	chr12:56119683-56119684	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs78757565	chr12:56119713-56119714	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs75254897	chr12:56119714-56119715	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs547649224	chr12:56119727-56119728	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs566016565	chr12:56119735-56119736	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs530342261	chr12:56119751-56119752	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs201647972	chr12:56119777-56119778	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs548491356	chr12:56119790-56119791	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs374337261	chr12:56119855-56119856	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs112700343	chr12:56119902-56119903	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Seminomas	18059402	CNVD
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
Hirschsprung''s Disease	21712996	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
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	19115005	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56111200-56120400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:56112800-56120800	Weak transcription	Fetal Brain Male	brain
3	chr12:56112800-56121000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:56113200-56120000	Strong transcription	Brain Germinal Matrix	brain
5	chr12:56113200-56120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:56114400-56121000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:56115000-56120400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:56115400-56120400	Genic enhancers	Fetal Intestine Large	intestine
9	chr12:56115400-56120400	Strong transcription	Fetal Stomach	stomach
10	chr12:56115400-56120600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:56115400-56121000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:56115400-56121200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:56115600-56120400	Strong transcription	Lung	lung
14	chr12:56115600-56120600	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr12:56115600-56120800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr12:56116000-56120600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:56116200-56120400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:56116400-56120400	Genic enhancers	Fetal Intestine Small	intestine
19	chr12:56116600-56119400	Genic enhancers	Right Ventricle	heart
20	chr12:56116600-56119600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:56116600-56120200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:56116600-56120400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:56116600-56120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:56116600-56120400	Genic enhancers	Adipose Nuclei	Adipose
25	chr12:56116600-56120400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:56116600-56120600	Genic enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:56116600-56120800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:56116600-56121800	Transcr. at gene 5' and 3'	HSMM	muscle
29	chr12:56116600-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:56116800-56119000	Genic enhancers	NHDF-Ad	bronchial
31	chr12:56116800-56119000	Genic enhancers	Osteobl	bone
32	chr12:56116800-56119200	Genic enhancers	Fetal Thymus	thymus
33	chr12:56116800-56119600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:56116800-56119600	Genic enhancers	Colonic Mucosa	Colon
35	chr12:56116800-56120400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:56116800-56120600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:56116800-56120600	Genic enhancers	A549	lung
38	chr12:56116800-56120800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:56116800-56120800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:56116800-56120800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:56116800-56120800	Genic enhancers	Left Ventricle	heart
42	chr12:56116800-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:56117000-56119000	Genic enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:56117000-56120600	Genic enhancers	Duodenum Mucosa	Duodenum
45	chr12:56117000-56120800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:56117000-56121200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:56117200-56119200	Genic enhancers	HSMMtube	muscle
48	chr12:56117200-56120400	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr12:56117200-56120600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:56117200-56120600	Weak transcription	Primary T cells from cord blood	blood

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