Variant report

Variant	esv3359848
Chromosome Location	chr12:49182310-49184858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:671)
Chromatin interactive
region (count:12)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49182913-49183022	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:49183368-49183584	HepG2	liver:	n/a	chr12:49183438-49183454
3	BACH1	chr12:49183398-49183432	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:49182530-49182730	GM12878	blood:	n/a	n/a
5	BRCA1	chr12:49183361-49183524	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr12:49182667-49182702	K562	blood:	n/a	n/a
7	CEBPB	chr12:49182949-49183057	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr12:49182631-49183132	HepG2	liver:	n/a	n/a
9	CHD2	chr12:49182935-49183005	HepG2	liver:	n/a	n/a
10	CHD2	chr12:49182855-49183055	GM12878	blood:	n/a	n/a
11	CHD2	chr12:49183312-49183501	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr12:49182327-49183683	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr12:49182958-49183052	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr12:49183384-49183446	GM12878	blood:	n/a	n/a
15	CHD2	chr12:49183261-49183594	HepG2	liver:	n/a	n/a
16	CREB1	chr12:49182646-49183016	A549	lung:	n/a	n/a
17	CTBP2	chr12:49181988-49183226	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:49182280-49182430	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr12:49183358-49183496	MCF-7	breast:	n/a	chr12:49183413-49183426
20	CTCF	chr12:49183360-49183510	HEEpiC	esophagus:	n/a	chr12:49183413-49183426
21	CTCF	chr12:49183340-49183490	Caco-2	colon:	n/a	chr12:49183413-49183426
22	CTCF	chr12:49183620-49183770	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr12:49182220-49182370	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr12:49183415-49183465	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr12:49183360-49183510	MCF-7	breast:	n/a	chr12:49183413-49183426
26	CTCF	chr12:49183380-49183481	MCF-7	breast:	n/a	chr12:49183413-49183426
27	CTCF	chr12:49182814-49182909	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr12:49183240-49183490	BJ	skin:	n/a	chr12:49183413-49183426
29	CTCF	chr12:49182860-49183010	AG04449	skin:	n/a	n/a
30	CTCF	chr12:49183340-49183490	BJ	skin:	n/a	chr12:49183413-49183426
31	CTCF	chr12:49182240-49182510	SAEC	small airway:	n/a	n/a
32	CTCF	chr12:49183395-49183462	LNCaP	prostate:	n/a	chr12:49183413-49183426
33	CTCF	chr12:49182220-49182370	HEK293	kidney:	n/a	n/a
34	CTCF	chr12:49183320-49183470	SAEC	small airway:	n/a	chr12:49183413-49183426
35	CTCF	chr12:49182200-49182350	AG04449	skin:	n/a	n/a
36	CTCF	chr12:49183374-49183490	MCF-7	breast:	n/a	chr12:49183413-49183426
37	CTCF	chr12:49183780-49183930	GM12872	blood:	n/a	n/a
38	CTCF	chr12:49183340-49183490	HMEC	breast:	n/a	chr12:49183413-49183426
39	CTCF	chr12:49183440-49183590	AG04449	skin:	n/a	n/a
40	CTCF	chr12:49183371-49183497	NHEK	skin:	n/a	chr12:49183413-49183426
41	CTCF	chr12:49183360-49183510	Hela-S3	cervix:	n/a	chr12:49183413-49183426
42	E2F4	chr12:49183264-49183586	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F6	chr12:49183207-49183685	A549	lung:	n/a	chr12:49183592-49183602
44	EBF1	chr12:49183295-49183564	GM12878	blood:	n/a	n/a
45	EGR1	chr12:49182786-49182963	K562	blood:	n/a	n/a
46	EGR1	chr12:49182721-49183134	H1-hESC	embryonic stem cell:	n/a	chr12:49183053-49183063 chr12:49183052-49183065 chr12:49182954-49182967
47	EGR1	chr12:49182585-49182855	K562	blood:	n/a	n/a
48	EGR1	chr12:49182743-49183043	H1-hESC	embryonic stem cell:	n/a	chr12:49182954-49182967
49	EP300	chr12:49182770-49183082	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr12:49183442-49183480	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49182837-49182887	HCM	heart:	n/a
2	chr12:49183131-49183181	AG09319	gingival:	n/a
3	chr12:49182586-49182636	SK-N-SH_RA	brain:	n/a
4	chr12:49182479-49182529	SKMC	muscle:	n/a
5	chr12:49182908-49182958	Hepatocyte	liver:	n/a
6	chr12:49182479-49182529	NHDF-neo	bronchial:	n/a
7	chr12:49183133-49183183	HAEpiC	amniotic membrane:	n/a
8	chr12:49183018-49183068	NHBE	bronchial:	n/a
9	chr12:49182566-49182616	AG09309	skin:	n/a
10	chr12:49183018-49183068	BJ	skin:	n/a
11	chr12:49182908-49182958	BE2_C	brain:	n/a
12	chr12:49183018-49183068	AG10803	skin:	n/a
13	chr12:49183131-49183181	HRCEpiC	kidney:	n/a
14	chr12:49182479-49182529	AG10803	skin:	n/a
15	chr12:49182908-49182958	Caco-2	colon:	n/a
16	chr12:49183018-49183068	HL-60	blood:	n/a
17	chr12:49183018-49183068	BE2_C	brain:	n/a
18	chr12:49183018-49183068	A549	lung:	n/a
19	chr12:49182586-49182636	U87	brain:	n/a
20	chr12:49182479-49182529	AoSMC	blood vessel:	n/a
21	chr12:49182586-49182636	AoSMC	blood vessel:	n/a
22	chr12:49182837-49182887	AG09309	skin:	n/a
23	chr12:49183018-49183068	HRE	kidney:	n/a
24	chr12:49182586-49182636	Hepatocyte	liver:	n/a
25	chr12:49182566-49182616	HRPEpiC	eye:	n/a
26	chr12:49183018-49183068	HCPEpiC	choroid plexus:	n/a
27	chr12:49182566-49182616	HCPEpiC	choroid plexus:	n/a
28	chr12:49183018-49183068	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:49183468-49183518	NHDF-neo	bronchial:	n/a
30	chr12:49182837-49182887	ovcar-3	ovarian:	n/a
31	chr12:49182566-49182616	MCF10A-Er-Src	breast:	n/a
32	chr12:49182566-49182616	A549	lung:	n/a
33	chr12:49182908-49182958	ovcar-3	ovarian:	n/a
34	chr12:49183018-49183068	U87	brain:	n/a
35	chr12:49183131-49183181	BJ	skin:	n/a
36	chr12:49183131-49183181	CMK	blood:	n/a
37	chr12:49182847-49182897	MCF10A-Er-Src	breast:	n/a
38	chr12:49182566-49182616	IMR90	lung:	fetal
39	chr12:49183018-49183068	MCF10A-Er-Src	breast:	n/a
40	chr12:49183468-49183518	Jurkat	blood:	n/a
41	chr12:49183468-49183518	SKMC	muscle:	n/a
42	chr12:49182908-49182958	AG04450	lung:	fetal
43	chr12:49182479-49182529	HIPEpiC	eye:	n/a
44	chr12:49183131-49183181	BE2_C	brain:	n/a
45	chr12:49183018-49183068	NB4	blood:	n/a
46	chr12:49183468-49183518	AG09319	gingival:	n/a
47	chr12:49182479-49182529	HCPEpiC	choroid plexus:	n/a
48	chr12:49182847-49182897	HCM	heart:	n/a
49	chr12:49183133-49183183	NHBE	bronchial:	n/a
50	chr12:49182479-49182529	ProgFib	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49074245..49078609-chr12:49180778..49182867,4	MCF-7	breast:
2	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
3	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
4	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
5	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:
6	chr12:49183065..49183767-chr12:49208148..49208948,2	MCF-7	breast:
7	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
8	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
9	chr12:49183691..49185359-chr12:49187187..49189450,2	K562	blood:
10	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
11	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
12	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNB3-1	chr12:49182930-49183010	ENSG00000257660
2	lnc-CACNB3-1	chr12:49184096-49184307	NONHSAT028028
3	lnc-CACNB3-1	chr12:49183768-49183902	ENSG00000257660
4	lnc-CACNB3-1	chr12:49183768-49183902	ENSG00000257660
5	lnc-CACNB3-1	chr12:49184096-49184318	ENSG00000257660
6	lnc-CACNB3-1	chr12:49183359-49183473	ENSG00000257660
7	lnc-CACNB3-1	chr12:49184096-49184350	XLOC_009738
8	lnc-CACNB3-1	chr12:49183649-49183902	NONHSAT028028
9	lnc-CACNB3-1	chr12:49183785-49183902	XLOC_009738
10	lnc-CACNB3-1	chr12:49184096-49184318	ENSG00000257660

No data

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000257660	TF binding region
ADCY6	CpG island
ENSG00000257660	CpG island
ENSG00000129315	chromatin interactions
ENSG00000264201	chromatin interactions
ENSG00000257653	chromatin interactions
ENSG00000139620	chromatin interactions
ENSG00000207467	chromatin interactions
ENSG00000174233	chromatin interactions
ENSG00000167535	chromatin interactions
SLC30A9	miRNA target sites
RRM2	miRNA target sites

Extended variants
information (count: 66 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142975307	chr12:49182310-49182311	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs548816231	chr12:49182377-49182378	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs367989621	chr12:49182499-49182500	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs568668404	chr12:49182518-49182519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs181861837	chr12:49182559-49182560	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs554091361	chr12:49182571-49182572	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs68003719	chr12:49182576-49182577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539971588	chr12:49182618-49182619	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs556589929	chr12:49182826-49182827	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs576553707	chr12:49182857-49182858	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs552601907	chr12:49182933-49182934	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs554810231	chr12:49182955-49182956	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs574659502	chr12:49183087-49183088	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs111784849	chr12:49183136-49183137	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs77559288	chr12:49183200-49183201	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs559945426	chr12:49183212-49183213	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs146110163	chr12:49183228-49183229	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs545539533	chr12:49183307-49183308	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs148430455	chr12:49183343-49183344	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs531168501	chr12:49183360-49183361	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs10711161	chr12:49183367-49183368	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs368203782	chr12:49183520-49183521	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs547890174	chr12:49183556-49183557	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs568706174	chr12:49183610-49183611	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs142560468	chr12:49183658-49183659	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs528003367	chr12:49183666-49183667	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
27	rs547953428	chr12:49183669-49183670	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
28	rs185229599	chr12:49183681-49183682	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs539938759	chr12:49183688-49183689	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
30	rs556650760	chr12:49183714-49183715	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
31	rs190609420	chr12:49183756-49183757	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs545916487	chr12:49183765-49183766	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs535808403	chr12:49183793-49183794	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs546498664	chr12:49183794-49183795	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs555500676	chr12:49183816-49183817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs574655766	chr12:49183819-49183820	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs372297519	chr12:49183852-49183853	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs540194225	chr12:49183929-49183930	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs553546465	chr12:49183978-49183979	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs183278387	chr12:49183979-49183980	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs545602795	chr12:49184005-49184006	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs375321340	chr12:49184047-49184048	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs11168742	chr12:49184071-49184072	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75875354	chr12:49184111-49184112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
45	rs567562841	chr12:49184180-49184181	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs576075765	chr12:49184251-49184252	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
47	rs541784239	chr12:49184300-49184301	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs576992627	chr12:49184320-49184321	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs564425868	chr12:49184341-49184342	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs561560548	chr12:49184348-49184349	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49180400-49182400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr12:49180800-49182400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr12:49180800-49182600	Flanking Active TSS	Fetal Muscle Leg	muscle
4	chr12:49181000-49182400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr12:49181200-49182400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:49181200-49182400	Flanking Active TSS	Psoas Muscle	Psoas
7	chr12:49181200-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49181200-49183200	Active TSS	HSMMtube	muscle
9	chr12:49181200-49183800	Active TSS	Aorta	Aorta
10	chr12:49181400-49182400	Flanking Active TSS	Liver	Liver
11	chr12:49181400-49182400	Flanking Active TSS	NHEK	skin
12	chr12:49181400-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:49181400-49183600	Active TSS	HSMM	muscle
14	chr12:49181600-49182400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:49181600-49182600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:49181600-49182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:49181600-49182600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:49181600-49182600	Flanking Active TSS	Placenta	Placenta
19	chr12:49181600-49183600	Active TSS	Fetal Heart	heart
20	chr12:49181600-49183600	Active TSS	Fetal Intestine Small	intestine
21	chr12:49181600-49183600	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:49181600-49183800	Active TSS	Fetal Kidney	kidney
23	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:49181800-49182400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr12:49181800-49183200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:49181800-49183400	Active TSS	Ovary	ovary
27	chr12:49181800-49183600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:49181800-49183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:49181800-49183600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:49181800-49183600	Active TSS	Left Ventricle	heart
31	chr12:49181800-49183600	Active TSS	NHLF	lung
32	chr12:49181800-49183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:49181800-49183800	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:49181800-49183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:49181800-49183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:49181800-49183800	Active TSS	Brain Angular Gyrus	brain
37	chr12:49181800-49183800	Active TSS	Fetal Intestine Large	intestine
38	chr12:49181800-49183800	Active TSS	Gastric	stomach
39	chr12:49181800-49183800	Active TSS	Right Atrium	heart
40	chr12:49181800-49183800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:49182000-49182400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:49182000-49182400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr12:49182000-49182400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr12:49182000-49182400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:49182000-49182400	Bivalent/Poised TSS	Thymus	Thymus
49	chr12:49182000-49183200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:49182000-49183200	Active TSS	Fetal Lung	lung

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