Variant report

Variant	nsv559008
Chromosome Location	chr12:56119594-56121194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:122)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
2	CTCF	chr12:56120380-56120530	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr12:56119801-56120094	T-47D	breast:	n/a	n/a
4	HCFC1	chr12:56121019-56124496	Hela-S3	cervix:	n/a	n/a
5	HEY1	chr12:56119436-56119652	K562	blood:	n/a	n/a
6	HEY1	chr12:56120947-56121195	K562	blood:	n/a	n/a
7	JUND	chr12:56120419-56120683	K562	blood:	n/a	n/a
8	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
9	MXI1	chr12:56121169-56124795	SK-N-SH	brain:	n/a	chr12:56122967-56122976 chr12:56122965-56122974 chr12:56122967-56122976 chr12:56122965-56122974
10	MXI1	chr12:56120957-56124566	IMR90	lung:	n/a	chr12:56122967-56122976 chr12:56122965-56122974 chr12:56122967-56122976 chr12:56122965-56122974
11	NR2F2	chr12:56121192-56122038	K562	blood:	n/a	n/a
12	POLR2A	chr12:56119298-56119918	K562	blood:	n/a	n/a
13	POLR2A	chr12:56120371-56121341	K562	blood:	n/a	n/a
14	POLR2A	chr12:56120605-56121224	K562	blood:	n/a	n/a
15	POLR2A	chr12:56116546-56120067	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:56120836-56121143	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:56119410-56119685	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:56120698-56121080	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:56120252-56122128	U87	brain:	n/a	n/a
20	POLR2A	chr12:56113762-56120156	U87	brain:	n/a	n/a
21	POLR2A	chr12:56116741-56119954	K562	blood:	n/a	n/a
22	POLR2A	chr12:56120459-56120578	IMR90	lung:	n/a	n/a
23	POLR2A	chr12:56121103-56124569	IMR90	lung:	n/a	n/a
24	POLR2A	chr12:56116242-56120054	K562	blood:	n/a	n/a
25	POLR2A	chr12:56119260-56119756	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr12:56119964-56119987	K562	blood:	n/a	n/a
27	POLR2A	chr12:56119080-56119800	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:56119325-56119623	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:56119617-56119640	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:56116134-56120180	U87	brain:	n/a	n/a
31	POLR2A	chr12:56116602-56119733	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:56120241-56120277	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:56120859-56120940	K562	blood:	n/a	n/a
34	POLR2A	chr12:56119500-56119940	K562	blood:	n/a	n/a
35	POLR2A	chr12:56119410-56120053	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr12:56113243-56124503	U87	brain:	n/a	n/a
37	POLR2A	chr12:56116248-56119994	A549	lung:	n/a	n/a
38	POLR2A	chr12:56120298-56122466	U87	brain:	n/a	n/a
39	POLR2A	chr12:56113532-56124497	U87	brain:	n/a	n/a
40	POLR2A	chr12:56120835-56121300	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:56120016-56120079	K562	blood:	n/a	n/a
42	POLR2A	chr12:56119453-56120093	SK-N-SH	brain:	n/a	n/a
43	REST	chr12:56119482-56119636	K562	blood:	n/a	chr12:56119552-56119565 chr12:56119548-56119568 chr12:56119554-56119563
44	RUNX3	chr12:56120827-56121162	GM12878	blood:	n/a	n/a
45	RUNX3	chr12:56120887-56121125	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr12:56120872-56121177	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP1	chr12:56119760-56120093	H1-hESC	embryonic stem cell:	n/a	chr12:56119761-56119770
48	SP1	chr12:56120351-56120802	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAL1	chr12:56120531-56120897	K562	blood:	n/a	n/a
50	YY1	chr12:56120585-56120775	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56121015-56121065	BJ	skin:	n/a
2	chr12:56120816-56120866	IMR90	lung:	fetal
3	chr12:56121015-56121065	K562	blood:	n/a
4	chr12:56121015-56121065	ECC-1	luminal epithelium:	n/a
5	chr12:56121015-56121065	Caco-2	colon:	n/a
6	chr12:56120816-56120866	HRCEpiC	kidney:	n/a
7	chr12:56120816-56120866	HNPCEpiC	eye:	n/a
8	chr12:56121015-56121065	BE2_C	brain:	n/a
9	chr12:56121015-56121065	PrEC	prostate:	n/a
10	chr12:56120816-56120866	ECC-1	luminal epithelium:	n/a
11	chr12:56121015-56121065	AoSMC	blood vessel:	n/a
12	chr12:56120816-56120866	NH-A	brain:	n/a
13	chr12:56120816-56120866	Hela-S3	cervix:	n/a
14	chr12:56121015-56121065	Hepatocyte	liver:	n/a
15	chr12:56121015-56121065	HNPCEpiC	eye:	n/a
16	chr12:56120816-56120866	BE2_C	brain:	n/a
17	chr12:56121015-56121065	SAEC	small airway:	n/a
18	chr12:56121015-56121065	NH-A	brain:	n/a
19	chr12:56121015-56121065	LNCaP	prostate:	n/a
20	chr12:56121015-56121065	HepG2	liver:	n/a
21	chr12:56120816-56120866	HRPEpiC	eye:	n/a
22	chr12:56120816-56120866	HEEpiC	esophagus:	n/a
23	chr12:56121015-56121065	U87	brain:	n/a
24	chr12:56121015-56121065	Jurkat	blood:	n/a
25	chr12:56120816-56120866	AoSMC	blood vessel:	n/a
26	chr12:56121015-56121065	AG04450	lung:	fetal
27	chr12:56120816-56120866	HCT-116	colon:	n/a
28	chr12:56120816-56120866	ProgFib	skin:	n/a
29	chr12:56121015-56121065	H1-hESC	embryonic stem cell:	embryo
30	chr12:56121015-56121065	T-47D	breast:	n/a
31	chr12:56120816-56120866	PrEC	prostate:	n/a
32	chr12:56120816-56120866	CMK	blood:	n/a
33	chr12:56120816-56120866	AG09309	skin:	n/a
34	chr12:56121015-56121065	HEK293	kidney:	embryo
35	chr12:56120816-56120866	AG04450	lung:	fetal
36	chr12:56121015-56121065	HRE	kidney:	n/a
37	chr12:56121015-56121065	AG09309	skin:	n/a
38	chr12:56121015-56121065	HCF	heart:	n/a
39	chr12:56121015-56121065	PANC-1	pancreas:	n/a
40	chr12:56121015-56121065	GM19239	blood:	n/a
41	chr12:56121015-56121065	CMK	blood:	n/a
42	chr12:56120816-56120866	HCPEpiC	choroid plexus:	n/a
43	chr12:56121015-56121065	HEEpiC	esophagus:	n/a
44	chr12:56120816-56120866	HepG2	liver:	n/a
45	chr12:56121015-56121065	HCPEpiC	choroid plexus:	n/a
46	chr12:56120816-56120866	AG09319	gingival:	n/a
47	chr12:56120816-56120866	NB4	blood:	n/a
48	chr12:56120816-56120866	GM19239	blood:	n/a
49	chr12:56121015-56121065	A549	lung:	n/a
50	chr12:56120816-56120866	GM12892	blood:	n/a

(count:24 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 102 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	rs377744109	chr12:56119917-56119918	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
20	rs138802238	chr12:56119926-56119927	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
21	rs200198746	chr12:56119938-56119939	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
22	rs570172603	chr12:56119978-56119979	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
23	rs483352715	chr12:56119986-56119987	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
24	rs11574657	chr12:56119990-56119991	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537109445	chr12:56120002-56120003	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
26	rs146321723	chr12:56120013-56120014	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs11542875	chr12:56120029-56120030	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs570830705	chr12:56120031-56120032	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs375556759	chr12:56120048-56120049	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs538951507	chr12:56120073-56120074	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs554144140	chr12:56120074-56120075	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs35746357	chr12:56120096-56120097	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542854720	chr12:56120108-56120109	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs191532151	chr12:56120109-56120110	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs576100704	chr12:56120114-56120115	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs374308084	chr12:56120117-56120118	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs369275839	chr12:56120118-56120119	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs543106383	chr12:56120150-56120151	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs564563444	chr12:56120222-56120223	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs4759191	chr12:56120225-56120226	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs140205817	chr12:56120308-56120309	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs540601492	chr12:56120328-56120329	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs142136149	chr12:56120336-56120337	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs545394029	chr12:56120354-56120355	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs530316778	chr12:56120358-56120359	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs548772974	chr12:56120359-56120360	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs374669767	chr12:56120381-56120382	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs570102933	chr12:56120384-56120385	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs12306693	chr12:56120399-56120400	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs2231467	chr12:56120414-56120415	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:295 , 50 per page) page: 1 2 3 4 5 6

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	chr12:56116600-56119600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:56116600-56120200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:56116600-56120400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:56116600-56120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:56116600-56120400	Genic enhancers	Adipose Nuclei	Adipose
24	chr12:56116600-56120400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:56116600-56120600	Genic enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:56116600-56120800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:56116600-56121800	Transcr. at gene 5' and 3'	HSMM	muscle
28	chr12:56116600-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:56116800-56119600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:56116800-56119600	Genic enhancers	Colonic Mucosa	Colon
31	chr12:56116800-56120400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:56116800-56120600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:56116800-56120600	Genic enhancers	A549	lung
34	chr12:56116800-56120800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:56116800-56120800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:56116800-56120800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:56116800-56120800	Genic enhancers	Left Ventricle	heart
38	chr12:56116800-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:56117000-56120600	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr12:56117000-56120800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:56117000-56121200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:56117200-56120400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr12:56117200-56120600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:56117200-56120600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:56117200-56121400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:56117400-56119600	Strong transcription	GM12878-XiMat	blood
47	chr12:56117400-56120400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:56117400-56120400	Genic enhancers	NH-A	brain
49	chr12:56117400-56120600	Strong transcription	HUVEC	blood vessel
50	chr12:56117400-56121200	Enhancers	Fetal Heart	heart

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