Variant report

Variant	nsv583035
Chromosome Location	chr2:127825968-127844735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:658)
CpG islands
(count:367)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:127825499-127825993	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
3	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
4	ATF2	chr2:127839350-127839700	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
6	BCLAF1	chr2:127839268-127839716	GM12878	blood:	n/a	n/a
7	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:127825385-127825984	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:127838526-127839961	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a
11	BHLHE40	chr2:127844445-127844936	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:127842880-127843222	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:127844529-127844581	K562	blood:	n/a	n/a
14	BHLHE40	chr2:127825293-127825973	K562	blood:	n/a	n/a
15	BHLHE40	chr2:127838100-127838398	K562	blood:	n/a	n/a
16	CBX3	chr2:127825343-127825988	K562	blood:	n/a	n/a
17	CCNT2	chr2:127838033-127838368	K562	blood:	n/a	n/a
18	CEBPB	chr2:127841635-127842081	A549	lung:	n/a	n/a
19	CEBPB	chr2:127829511-127829954	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:127829538-127829904	IMR90	lung:	n/a	n/a
21	CEBPB	chr2:127829562-127829907	K562	blood:	n/a	n/a
22	CEBPB	chr2:127829535-127829975	MCF-7	breast:	n/a	n/a
23	CEBPB	chr2:127829481-127829977	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr2:127829580-127829855	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:127829623-127829796	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:127829454-127829954	A549	lung:	n/a	n/a
27	CEBPB	chr2:127840542-127840896	HepG2	liver:	n/a	chr2:127840717-127840728
28	CEBPB	chr2:127829534-127829914	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:127829609-127829794	K562	blood:	n/a	n/a
30	CEBPB	chr2:127829542-127829911	A549	lung:	n/a	n/a
31	CEBPB	chr2:127829497-127829924	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr2:127829538-127829920	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:127829531-127829925	K562	blood:	n/a	n/a
34	CEBPB	chr2:127840536-127840903	IMR90	lung:	n/a	chr2:127840717-127840728
35	CEBPB	chr2:127840571-127840867	K562	blood:	n/a	chr2:127840717-127840728
36	CEBPB	chr2:127841327-127842550	IMR90	lung:	n/a	n/a
37	CEBPB	chr2:127840566-127840868	H1-hESC	embryonic stem cell:	n/a	chr2:127840717-127840728
38	CEBPB	chr2:127829549-127829910	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr2:127841734-127841947	K562	blood:	n/a	n/a
40	CEBPD	chr2:127829618-127829819	HepG2	liver:	n/a	n/a
41	CHD1	chr2:127839137-127839762	GM12878	blood:	n/a	n/a
42	CHD1	chr2:127838197-127838328	GM12878	blood:	n/a	n/a
43	CHD1	chr2:127838900-127838916	GM12878	blood:	n/a	n/a
44	CHD2	chr2:127827872-127827989	HepG2	liver:	n/a	n/a
45	CHD2	chr2:127844659-127844994	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr2:127838232-127839964	GM12878	blood:	n/a	n/a
47	CHD2	chr2:127843573-127843599	GM12878	blood:	n/a	n/a
48	CHD2	chr2:127837029-127837136	HepG2	liver:	n/a	n/a
49	CHD2	chr2:127842926-127843355	GM12878	blood:	n/a	n/a
50	CHD2	chr2:127843856-127844003	GM12878	blood:	n/a	chr2:127843856-127843866

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127839539-127839589	PrEC	prostate:	n/a
2	chr2:127839539-127839589	PrEC	prostate:	n/a
3	chr2:127841945-127841995	HIPEpiC	eye:	n/a
4	chr2:127830703-127830753	HMEC	breast:	n/a
5	chr2:127841945-127841995	GM12892	blood:	n/a
6	chr2:127826083-127826133	NB4	blood:	n/a
7	chr2:127826149-127826199	HCT-116	colon:	n/a
8	chr2:127841945-127841995	NB4	blood:	n/a
9	chr2:127839539-127839589	HepG2	liver:	n/a
10	chr2:127826149-127826199	ECC-1	luminal epithelium:	n/a
11	chr2:127841945-127841995	BE2_C	brain:	n/a
12	chr2:127825935-127825985	Hepatocyte	liver:	n/a
13	chr2:127839539-127839589	MCF10A-Er-Src	breast:	n/a
14	chr2:127826083-127826133	PFSK-1	brain:	n/a
15	chr2:127841945-127841995	Hela-S3	cervix:	n/a
16	chr2:127826083-127826133	GM12891	blood:	n/a
17	chr2:127825935-127825985	U87	brain:	n/a
18	chr2:127826149-127826199	Jurkat	blood:	n/a
19	chr2:127841945-127841995	AG10803	skin:	n/a
20	chr2:127826083-127826133	HEK293	kidney:	embryo
21	chr2:127841945-127841995	HEK293	kidney:	embryo
22	chr2:127826149-127826199	HRPEpiC	eye:	n/a
23	chr2:127825935-127825985	Caco-2	colon:	n/a
24	chr2:127825935-127825985	CMK	blood:	n/a
25	chr2:127825935-127825985	NHBE	bronchial:	n/a
26	chr2:127839539-127839589	HRCEpiC	kidney:	n/a
27	chr2:127825935-127825985	SAEC	small airway:	n/a
28	chr2:127841945-127841995	SK-N-MC	brain:	n/a
29	chr2:127830703-127830753	AG10803	skin:	n/a
30	chr2:127826149-127826199	SK-N-SH	brain:	n/a
31	chr2:127825935-127825985	BE2_C	brain:	n/a
32	chr2:127826083-127826133	AG04449	skin:	fetal
33	chr2:127839539-127839589	NB4	blood:	n/a
34	chr2:127830703-127830753	RPTEC	kidney:	n/a
35	chr2:127841945-127841995	U87	brain:	n/a
36	chr2:127825935-127825985	SK-N-SH	brain:	n/a
37	chr2:127826083-127826133	GM12878	blood:	n/a
38	chr2:127839539-127839589	HNPCEpiC	eye:	n/a
39	chr2:127826149-127826199	HEK293	kidney:	embryo
40	chr2:127825935-127825985	MCF10A-Er-Src	breast:	n/a
41	chr2:127841945-127841995	LNCaP	prostate:	n/a
42	chr2:127825935-127825985	SK-N-MC	brain:	n/a
43	chr2:127826149-127826199	SKMC	muscle:	n/a
44	chr2:127825935-127825985	HRPEpiC	eye:	n/a
45	chr2:127839539-127839589	AG04450	lung:	fetal
46	chr2:127830703-127830753	PFSK-1	brain:	n/a
47	chr2:127839539-127839589	Jurkat	blood:	n/a
48	chr2:127830703-127830753	GM12891	blood:	n/a
49	chr2:127825935-127825985	IMR90	lung:	fetal
50	chr2:127826083-127826133	SK-N-SH	brain:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127819816..127822749-chr2:127823381..127826394,3	K562	blood:
2	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
3	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
4	chr2:127842780..127845072-chr2:127863578..127865079,2	K562	blood:
5	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
6	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
7	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
8	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
9	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
10	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
11	chr2:127820803..127824621-chr2:127824894..127830047,6	K562	blood:
12	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
13	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
14	chr2:127842254..127844330-chr2:127859021..127861716,3	MCF-7	breast:
15	chr2:127825712..127826261-chr2:127901784..127902300,2	MCF-7	breast:
16	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
17	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
18	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
19	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
20	chr2:127829694..127830341-chr2:127897153..127898129,2	MCF-7	breast:
21	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
22	chr2:127825353..127826710-chr2:127931463..127932268,5	MCF-7	breast:
23	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
24	chr2:127825662..127826505-chr2:127954218..127955183,2	MCF-7	breast:
25	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
26	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
27	chr2:127825705..127826883-chr2:127897059..127898198,8	MCF-7	breast:
28	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
29	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
30	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:
31	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
32	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
33	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:
34	chr2:127825460..127825985-chr2:127931746..127932330,2	MCF-7	breast:
35	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
36	chr2:127818892..127820837-chr2:127828429..127830167,2	MCF-7	breast:
37	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
38	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
39	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:

No data

Variant related genes	Relation type
BIN1	TF binding region
BIN1	CpG island
ENSG00000136717	chromatin interactions

Extended variants
information (count: 859 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs934826	chr2:127825968-127825969	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147622091	chr2:127825971-127825972	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183752532	chr2:127825972-127825973	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527639201	chr2:127826009-127826010	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372770142	chr2:127826036-127826037	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369494436	chr2:127826042-127826043	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546611378	chr2:127826061-127826062	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375717650	chr2:127826073-127826074	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566618682	chr2:127826090-127826091	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547427904	chr2:127826091-127826092	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571119781	chr2:127826100-127826101	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539770834	chr2:127826114-127826115	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538691470	chr2:127826128-127826129	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374763919	chr2:127826142-127826143	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570114755	chr2:127826159-127826160	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536076035	chr2:127826179-127826180	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142139452	chr2:127826186-127826187	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572214628	chr2:127826198-127826199	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188477025	chr2:127826221-127826222	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs114446285	chr2:127826259-127826260	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577855147	chr2:127826300-127826301	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543319192	chr2:127826302-127826303	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563623275	chr2:127826359-127826360	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35547600	chr2:127826400-127826401	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146189826	chr2:127826423-127826424	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571778575	chr2:127826431-127826432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372032110	chr2:127826448-127826449	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200720385	chr2:127826453-127826454	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375202461	chr2:127826458-127826459	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372195051	chr2:127826460-127826461	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376783051	chr2:127826485-127826486	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112363442	chr2:127826498-127826499	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368758270	chr2:127826499-127826500	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547747050	chr2:127826503-127826504	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1060743	chr2:127826533-127826534	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs371755655	chr2:127826543-127826544	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138885327	chr2:127826548-127826549	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs267606681	chr2:127826558-127826559	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs121909274	chr2:127826568-127826569	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550177667	chr2:127826569-127826570	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146136543	chr2:127826575-127826576	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs67327804	chr2:127826632-127826633	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192877291	chr2:127826635-127826636	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372851930	chr2:127826636-127826637	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549648049	chr2:127826638-127826639	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375083857	chr2:127826657-127826658	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565760999	chr2:127826701-127826702	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534744799	chr2:127826728-127826729	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557851797	chr2:127826762-127826763	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577539782	chr2:127826771-127826772	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
2	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:127815400-127826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:127816000-127829000	Weak transcription	Aorta	Aorta
5	chr2:127816600-127829600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:127816800-127831200	Weak transcription	Fetal Brain Female	brain
7	chr2:127817200-127833800	Genic enhancers	Spleen	Spleen
8	chr2:127818400-127844400	Genic enhancers	Fetal Muscle Leg	muscle
9	chr2:127821000-127827200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:127821200-127838600	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr2:127821600-127826000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:127821800-127826400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:127821800-127829200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:127821800-127830000	Genic enhancers	Brain Substantia Nigra	brain
15	chr2:127821800-127830200	Genic enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:127822000-127826400	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr2:127822000-127830200	Genic enhancers	Brain Cingulate Gyrus	brain
18	chr2:127822200-127829600	Genic enhancers	Brain Anterior Caudate	brain
19	chr2:127822400-127826400	Enhancers	Adipose Nuclei	Adipose
20	chr2:127822800-127836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:127822800-127836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:127823000-127829800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:127823000-127832800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:127823200-127826000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:127823200-127826800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:127823200-127830600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:127823200-127831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:127823200-127832600	Weak transcription	GM12878-XiMat	blood
29	chr2:127823200-127838200	Weak transcription	Left Ventricle	heart
30	chr2:127823400-127826000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:127823400-127826200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:127823400-127826800	Weak transcription	Primary B cells from cord blood	blood
33	chr2:127823400-127839200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:127823600-127826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:127823600-127826000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:127823600-127827000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:127823600-127838800	Weak transcription	Fetal Kidney	kidney
38	chr2:127823800-127826000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:127824000-127838400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:127824200-127826200	Enhancers	Colonic Mucosa	Colon
41	chr2:127824800-127826000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:127824800-127826000	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:127824800-127826400	Genic enhancers	Placenta	Placenta
44	chr2:127824800-127830000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:127824800-127830400	Genic enhancers	Brain Angular Gyrus	brain
46	chr2:127825000-127826000	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr2:127825000-127826000	Enhancers	A549	lung
48	chr2:127825000-127826200	Enhancers	Right Ventricle	heart
49	chr2:127825000-127827000	Genic enhancers	Gastric	stomach
50	chr2:127825000-127830400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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