Variant report

Variant	esv3448396
Chromosome Location	chr2:48131848-48135396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1147)
CpG islands
(count:549)
Chromatin interactive
region (count:17)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1147 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48133439-48133472	K562	blood:	n/a	n/a
2	ARID3A	chr2:48131705-48131876	K562	blood:	n/a	n/a
3	ARID3A	chr2:48131289-48131850	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:48133430-48134532	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:48133750-48134910	K562	blood:	n/a	n/a
6	ATF1	chr2:48133484-48134403	K562	blood:	n/a	n/a
7	ATF2	chr2:48133736-48134421	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:48133715-48134374	GM12878	blood:	n/a	n/a
9	ATF2	chr2:48133751-48134428	GM12878	blood:	n/a	n/a
10	ATF2	chr2:48133765-48134329	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr2:48133245-48133660	A549	lung:	n/a	n/a
12	ATF3	chr2:48133691-48134386	A549	lung:	n/a	n/a
13	ATF3	chr2:48133743-48134385	A549	lung:	n/a	n/a
14	ATF3	chr2:48133723-48134315	K562	blood:	n/a	n/a
15	BACH1	chr2:48131786-48132197	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr2:48133782-48134093	GM12878	blood:	n/a	n/a
17	BCL3	chr2:48133220-48134419	A549	lung:	n/a	n/a
18	BCL3	chr2:48133716-48134878	A549	lung:	n/a	n/a
19	BCLAF1	chr2:48133710-48134422	GM12878	blood:	n/a	n/a
20	BCLAF1	chr2:48133686-48134377	GM12878	blood:	n/a	n/a
21	BCLAF1	chr2:48131413-48131942	GM12878	blood:	n/a	n/a
22	BCLAF1	chr2:48133295-48133691	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:48131603-48131862	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:48132652-48132831	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:48133471-48134318	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:48133453-48134330	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:48133442-48134743	K562	blood:	n/a	n/a
28	BHLHE40	chr2:48131647-48131965	K562	blood:	n/a	n/a
29	BRCA1	chr2:48132239-48132357	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr2:48133306-48134327	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr2:48131726-48131871	GM12878	blood:	n/a	n/a
32	CBX3	chr2:48133269-48134406	K562	blood:	n/a	n/a
33	CCNT2	chr2:48132212-48134249	K562	blood:	n/a	n/a
34	CCNT2	chr2:48134584-48134808	K562	blood:	n/a	n/a
35	CEBPB	chr2:48134562-48134837	K562	blood:	n/a	n/a
36	CEBPB	chr2:48133833-48134323	K562	blood:	n/a	n/a
37	CEBPB	chr2:48133771-48134314	A549	lung:	n/a	n/a
38	CEBPB	chr2:48133414-48134881	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr2:48133897-48134363	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:48133852-48134406	K562	blood:	n/a	n/a
41	CEBPB	chr2:48133701-48134277	A549	lung:	n/a	n/a
42	CEBPB	chr2:48130811-48131881	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr2:48133841-48134893	A549	lung:	n/a	n/a
44	CEBPB	chr2:48132231-48132269	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr2:48133868-48134362	IMR90	lung:	n/a	n/a
46	CEBPB	chr2:48133893-48134535	GM12878	blood:	n/a	n/a
47	CEBPD	chr2:48132550-48133280	HepG2	liver:	n/a	n/a
48	CEBPD	chr2:48133395-48134261	HepG2	liver:	n/a	n/a
49	CEBPD	chr2:48133424-48133679	HepG2	liver:	n/a	n/a
50	CEBPD	chr2:48133718-48134038	HepG2	liver:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48132880-48132930	HEK293	kidney:	embryo
2	chr2:48132755-48132805	IMR90	lung:	fetal
3	chr2:48132880-48132930	SK-N-SH	brain:	n/a
4	chr2:48133748-48133798	HCT-116	colon:	n/a
5	chr2:48132005-48132055	HL-60	blood:	n/a
6	chr2:48132880-48132930	CMK	blood:	n/a
7	chr2:48132877-48132927	A549	lung:	n/a
8	chr2:48133617-48133667	PANC-1	pancreas:	n/a
9	chr2:48132877-48132927	HCM	heart:	n/a
10	chr2:48132902-48132952	HCF	heart:	n/a
11	chr2:48133617-48133667	LNCaP	prostate:	n/a
12	chr2:48132005-48132055	Hepatocyte	liver:	n/a
13	chr2:48132902-48132952	HEEpiC	esophagus:	n/a
14	chr2:48132880-48132930	ovcar-3	ovarian:	n/a
15	chr2:48132880-48132930	PANC-1	pancreas:	n/a
16	chr2:48133748-48133798	NB4	blood:	n/a
17	chr2:48133617-48133667	ECC-1	luminal epithelium:	n/a
18	chr2:48133053-48133103	LNCaP	prostate:	n/a
19	chr2:48133748-48133798	HCPEpiC	choroid plexus:	n/a
20	chr2:48133748-48133798	A549	lung:	n/a
21	chr2:48132005-48132055	AG10803	skin:	n/a
22	chr2:48132074-48132124	AG09309	skin:	n/a
23	chr2:48133617-48133667	ProgFib	skin:	n/a
24	chr2:48133748-48133798	HEEpiC	esophagus:	n/a
25	chr2:48132074-48132124	Hepatocyte	liver:	n/a
26	chr2:48132902-48132952	NHDF-neo	bronchial:	n/a
27	chr2:48133617-48133667	ovcar-3	ovarian:	n/a
28	chr2:48133053-48133103	ECC-1	luminal epithelium:	n/a
29	chr2:48132880-48132930	H1-hESC	embryonic stem cell:	embryo
30	chr2:48133748-48133798	BJ	skin:	n/a
31	chr2:48132902-48132952	U87	brain:	n/a
32	chr2:48132880-48132930	A549	lung:	n/a
33	chr2:48132877-48132927	HMEC	breast:	n/a
34	chr2:48133053-48133103	SK-N-SH_RA	brain:	n/a
35	chr2:48132755-48132805	BJ	skin:	n/a
36	chr2:48133617-48133667	AG04450	lung:	fetal
37	chr2:48132902-48132952	BE2_C	brain:	n/a
38	chr2:48132880-48132930	SK-N-MC	brain:	n/a
39	chr2:48132074-48132124	HRE	kidney:	n/a
40	chr2:48132074-48132124	SKMC	muscle:	n/a
41	chr2:48132902-48132952	HUVEC	blood vessel:	n/a
42	chr2:48132877-48132927	HCF	heart:	n/a
43	chr2:48132877-48132927	T-47D	breast:	n/a
44	chr2:48133053-48133103	RPTEC	kidney:	n/a
45	chr2:48133748-48133798	GM12892	blood:	n/a
46	chr2:48132880-48132930	NHBE	bronchial:	n/a
47	chr2:48132755-48132805	HL-60	blood:	n/a
48	chr2:48132074-48132124	AG10803	skin:	n/a
49	chr2:48132755-48132805	HEK293	kidney:	embryo
50	chr2:48132755-48132805	GM06990	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:76036827..76037477-chr2:48133623..48134207,2	Hela-S3	cervix:
2	chr2:48086935..48088638-chr2:48134202..48136137,2	K562	blood:
3	chr2:48009564..48012056-chr2:48131613..48133953,3	MCF-7	breast:
4	chr2:48133031..48133677-chr2:88315752..88316519,2	Hela-S3	cervix:
5	chr2:48134773..48137566-chr2:48254609..48256804,2	K562	blood:
6	chr2:48131056..48133889-chr2:48666649..48669305,2	MCF-7	breast:
7	chr2:48133532..48134453-chr6:26198677..26199506,2	HCT-116	colon:
8	chr2:48132531..48135272-chr2:48667743..48670607,2	K562	blood:
9	chr2:48134122..48134992-chr2:48333400..48334251,2	K562	blood:
10	chr19:14628856..14629570-chr2:48133707..48134404,2	Hela-S3	cervix:
11	chr1:243418189..243419094-chr2:48133534..48134469,2	Hela-S3	cervix:
12	chr17:56707788..56710048-chr2:48133754..48135273,2	MCF-7	breast:
13	chr2:48132210..48134321-chr2:48135283..48136990,2	K562	blood:
14	chr2:48009241..48011521-chr2:48133698..48136009,2	K562	blood:
15	chr2:48008927..48012318-chr2:48131369..48134669,5	MCF-7	breast:
16	chr2:48133540..48135075-chr2:48540885..48543276,2	K562	blood:
17	chr2:48134350..48137306-chr2:48139263..48142042,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSH6-2	chr2:48133931-48134262	XLOC_001464
2	lnc-MSH6-2	chr2:48134457-48134774	ENSG00000233230.1
3	lnc-MSH6-2	chr2:48134457-48135047	NONHSAT070607
4	lnc-MSH6-2	chr2:48134457-48134795	XLOC_001464
5	lnc-MSH6-2	chr2:48133221-48133298	XLOC_001464
6	lnc-MSH6-2	chr2:48133732-48134131	NONHSAT070607
7	lnc-MSH6-2	chr2:48133969-48134131	XLOC_001464
8	lnc-MSH6-2	chr2:48132817-48132938	ENSG00000233230.1
9	lnc-MSH6-2	chr2:48134457-48134949	XLOC_001464
10	lnc-MSH6-2	chr2:48134457-48135298	XLOC_001464

No data

Variant related genes	Relation type
FBXO11	TF binding region
ENSG00000233230	TF binding region
FBXO11	CpG island
ENSG00000233230	CpG island
ENSG00000138081	chromatin interactions
ENSG00000078687	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000116062	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000272663	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000233230	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000143702	chromatin interactions
PAPD5	miRNA target sites
KIAA0895	miRNA target sites
HMGCR	miRNA target sites

Extended variants
information (count: 132 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13008929	chr2:48131848-48131849	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs181486510	chr2:48131867-48131868	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs13035558	chr2:48131936-48131937	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375290597	chr2:48131937-48131938	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs146021851	chr2:48131965-48131966	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543665130	chr2:48131969-48131970	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs558479494	chr2:48131981-48131982	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs185979386	chr2:48132016-48132017	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190787429	chr2:48132018-48132019	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs369911561	chr2:48132021-48132022	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs564044174	chr2:48132024-48132025	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs572950010	chr2:48132044-48132045	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs576921932	chr2:48132063-48132064	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs181926142	chr2:48132075-48132076	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs529241759	chr2:48132077-48132078	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs185762298	chr2:48132122-48132123	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550596279	chr2:48132159-48132160	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs369984864	chr2:48132164-48132165	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs562753135	chr2:48132167-48132168	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs573890223	chr2:48132170-48132171	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs532991108	chr2:48132249-48132250	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs11685908	chr2:48132291-48132292	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs566646165	chr2:48132300-48132301	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs534006417	chr2:48132313-48132314	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs373419627	chr2:48132324-48132325	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs559062015	chr2:48132340-48132341	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs567318479	chr2:48132372-48132373	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs538194229	chr2:48132374-48132375	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs371899831	chr2:48132391-48132392	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs578172326	chr2:48132426-48132427	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs142913271	chr2:48132434-48132435	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs560847095	chr2:48132456-48132457	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs538885137	chr2:48132488-48132489	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs377729325	chr2:48132494-48132495	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs142271067	chr2:48132540-48132541	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs545418712	chr2:48132542-48132543	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs201776735	chr2:48132580-48132581	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs573011065	chr2:48132606-48132607	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs565016056	chr2:48132864-48132865	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs371153910	chr2:48132865-48132866	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs540319452	chr2:48132890-48132891	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
42	rs145699498	chr2:48132897-48132898	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs561710870	chr2:48132924-48132925	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs573680795	chr2:48132925-48132926	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs562654629	chr2:48132926-48132927	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs533224477	chr2:48132967-48132968	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs544903225	chr2:48133006-48133007	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs191012371	chr2:48133042-48133043	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs559900360	chr2:48133043-48133044	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs527828174	chr2:48133136-48133137	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48129200-48134600	Active TSS	GM12878-XiMat	blood
2	chr2:48129400-48134400	Active TSS	Ovary	ovary
3	chr2:48129600-48134600	Active TSS	NHLF	lung
4	chr2:48129600-48134800	Active TSS	Right Atrium	heart
5	chr2:48129600-48135000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:48129800-48132000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:48129800-48132000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:48129800-48134400	Active TSS	K562	blood
9	chr2:48129800-48134600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:48129800-48134800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:48129800-48134800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:48129800-48135200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:48130000-48132000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:48130000-48134400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:48130000-48134600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:48130000-48135000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:48130200-48134600	Active TSS	NHDF-Ad	bronchial
18	chr2:48130200-48134800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:48130200-48134800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:48130200-48135000	Active TSS	HSMMtube	muscle
21	chr2:48130400-48132000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:48130400-48134400	Active TSS	Fetal Intestine Small	intestine
23	chr2:48130400-48134400	Active TSS	Stomach Smooth Muscle	stomach
24	chr2:48130400-48134600	Active TSS	Brain Angular Gyrus	brain
25	chr2:48130400-48134600	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:48130400-48134600	Active TSS	Colon Smooth Muscle	Colon
27	chr2:48130400-48134600	Active TSS	Right Ventricle	heart
28	chr2:48130400-48134800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:48130400-48134800	Active TSS	Aorta	Aorta
30	chr2:48130400-48134800	Active TSS	Psoas Muscle	Psoas
31	chr2:48130400-48134800	Active TSS	HMEC	breast
32	chr2:48130600-48132000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:48130600-48134200	Active TSS	Fetal Muscle Leg	muscle
34	chr2:48130600-48134400	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr2:48130600-48134400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr2:48130600-48134400	Active TSS	Fetal Kidney	kidney
37	chr2:48130600-48134600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:48130600-48134600	Active TSS	Fetal Intestine Large	intestine
39	chr2:48130600-48134600	Active TSS	Fetal Lung	lung
40	chr2:48130600-48134600	Active TSS	Hela-S3	cervix
41	chr2:48130600-48134800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:48130600-48135000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr2:48130600-48135200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:48130800-48134000	Active TSS	Fetal Thymus	thymus
45	chr2:48130800-48134200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:48130800-48134200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr2:48130800-48134400	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr2:48130800-48134400	Active TSS	Fetal Stomach	stomach
49	chr2:48130800-48134400	Active TSS	NHEK	skin
50	chr2:48130800-48134600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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