Variant report

Variant	nsv873791
Chromosome Location	chr2:33489975-33586776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:962)
CpG islands
(count:366)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:33523300-33523527	K562	blood:	n/a	n/a
2	ARID3A	chr2:33500872-33501324	HepG2	liver:	n/a	n/a
3	ATF1	chr2:33500792-33501145	K562	blood:	n/a	n/a
4	ATF1	chr2:33561357-33561557	K562	blood:	n/a	n/a
5	ATF1	chr2:33523272-33523602	K562	blood:	n/a	n/a
6	ATF2	chr2:33497053-33497565	GM12878	blood:	n/a	n/a
7	ATF2	chr2:33546283-33546650	GM12878	blood:	n/a	n/a
8	ATF2	chr2:33496929-33497573	GM12878	blood:	n/a	n/a
9	ATF2	chr2:33546325-33546906	GM12878	blood:	n/a	n/a
10	ATF3	chr2:33516228-33516950	A549	lung:	n/a	n/a
11	ATF3	chr2:33500706-33501250	A549	lung:	n/a	n/a
12	BATF	chr2:33546263-33546837	GM12878	blood:	n/a	n/a
13	BATF	chr2:33546322-33546758	GM12878	blood:	n/a	n/a
14	BATF	chr2:33497054-33497437	GM12878	blood:	n/a	n/a
15	BATF	chr2:33497045-33497444	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:33546260-33546875	GM12878	blood:	n/a	chr2:33546724-33546733 chr2:33546827-33546836
17	BCL11A	chr2:33497083-33497403	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:33497029-33497472	GM12878	blood:	n/a	n/a
19	BCL3	chr2:33516373-33516960	A549	lung:	n/a	n/a
20	BCL3	chr2:33516117-33516981	A549	lung:	n/a	n/a
21	BCL3	chr2:33500707-33501241	A549	lung:	n/a	n/a
22	BCL3	chr2:33523207-33523469	GM12878	blood:	n/a	chr2:33523404-33523413 chr2:33523405-33523414
23	BCLAF1	chr2:33497006-33497541	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:33516464-33516665	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:33500847-33501146	K562	blood:	n/a	n/a
26	BHLHE40	chr2:33500836-33501162	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:33497047-33497454	GM12878	blood:	n/a	n/a
28	CBX3	chr2:33500725-33501185	K562	blood:	n/a	n/a
29	CBX3	chr2:33491465-33492038	K562	blood:	n/a	n/a
30	CBX3	chr2:33491581-33491878	K562	blood:	n/a	n/a
31	CBX3	chr2:33580941-33581589	K562	blood:	n/a	n/a
32	CCNT2	chr2:33500895-33501112	K562	blood:	n/a	n/a
33	CEBPB	chr2:33571717-33571855	H1-hESC	embryonic stem cell:	n/a	chr2:33571778-33571789
34	CEBPB	chr2:33544410-33544473	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:33542079-33542355	IMR90	lung:	n/a	chr2:33542194-33542205 chr2:33542192-33542203
36	CEBPB	chr2:33495718-33496097	IMR90	lung:	n/a	n/a
37	CEBPB	chr2:33547343-33547681	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:33527570-33527587	A549	lung:	n/a	chr2:33527571-33527584
39	CEBPB	chr2:33518058-33518447	A549	lung:	n/a	chr2:33518207-33518216 chr2:33518205-33518218 chr2:33518207-33518216 chr2:33518206-33518217 chr2:33518207-33518216
40	CEBPB	chr2:33495743-33496073	A549	lung:	n/a	n/a
41	CEBPB	chr2:33493330-33493466	K562	blood:	n/a	chr2:33493346-33493359 chr2:33493346-33493357 chr2:33493348-33493359 chr2:33493346-33493359 chr2:33493346-33493359
42	CEBPB	chr2:33493212-33493508	HepG2	liver:	n/a	chr2:33493346-33493359 chr2:33493346-33493357 chr2:33493348-33493359 chr2:33493346-33493359 chr2:33493346-33493359
43	CEBPB	chr2:33545740-33545979	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:33568682-33568945	A549	lung:	n/a	chr2:33568756-33568767 chr2:33568757-33568768 chr2:33568758-33568767
45	CEBPB	chr2:33539129-33539399	A549	lung:	n/a	chr2:33539277-33539288
46	CEBPB	chr2:33523259-33523568	K562	blood:	n/a	n/a
47	CEBPB	chr2:33500845-33501427	IMR90	lung:	n/a	chr2:33501250-33501261
48	CEBPB	chr2:33523162-33523629	K562	blood:	n/a	n/a
49	CEBPB	chr2:33503578-33503772	K562	blood:	n/a	chr2:33503706-33503717
50	CEBPB	chr2:33517995-33518337	K562	blood:	n/a	chr2:33518207-33518216 chr2:33518205-33518218 chr2:33518207-33518216 chr2:33518206-33518217 chr2:33518207-33518216

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33546572-33546622	ProgFib	skin:	n/a
2	chr2:33493596-33493646	IMR90	lung:	fetal
3	chr2:33541881-33541931	AG10803	skin:	n/a
4	chr2:33500889-33500939	NB4	blood:	n/a
5	chr2:33518258-33518308	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:33518258-33518308	Jurkat	blood:	n/a
7	chr2:33518258-33518308	AoSMC	blood vessel:	n/a
8	chr2:33518258-33518308	HMEC	breast:	n/a
9	chr2:33518258-33518308	MCF-7	breast:	n/a
10	chr2:33493596-33493646	GM12878	blood:	n/a
11	chr2:33541881-33541931	ovcar-3	ovarian:	n/a
12	chr2:33518258-33518308	HCF	heart:	n/a
13	chr2:33541881-33541931	Jurkat	blood:	n/a
14	chr2:33541881-33541931	SK-N-SH	brain:	n/a
15	chr2:33500889-33500939	MCF-7	breast:	n/a
16	chr2:33541881-33541931	AoSMC	blood vessel:	n/a
17	chr2:33518258-33518308	H1-hESC	embryonic stem cell:	embryo
18	chr2:33585815-33585865	AG09309	skin:	n/a
19	chr2:33546572-33546622	GM19239	blood:	n/a
20	chr2:33585815-33585865	HEK293	kidney:	embryo
21	chr2:33493596-33493646	HRCEpiC	kidney:	n/a
22	chr2:33541881-33541931	HIPEpiC	eye:	n/a
23	chr2:33500889-33500939	MCF10A-Er-Src	breast:	n/a
24	chr2:33585815-33585865	GM12892	blood:	n/a
25	chr2:33541881-33541931	H1-hESC	embryonic stem cell:	embryo
26	chr2:33493596-33493646	Hela-S3	cervix:	n/a
27	chr2:33541881-33541931	AG04450	lung:	fetal
28	chr2:33546572-33546622	HCF	heart:	n/a
29	chr2:33500889-33500939	PFSK-1	brain:	n/a
30	chr2:33585815-33585865	RPTEC	kidney:	n/a
31	chr2:33518258-33518308	HCM	heart:	n/a
32	chr2:33500889-33500939	HAEpiC	amniotic membrane:	n/a
33	chr2:33493596-33493646	HL-60	blood:	n/a
34	chr2:33585815-33585865	SK-N-SH_RA	brain:	n/a
35	chr2:33518258-33518308	HNPCEpiC	eye:	n/a
36	chr2:33546572-33546622	HRCEpiC	kidney:	n/a
37	chr2:33585815-33585865	BJ	skin:	n/a
38	chr2:33585815-33585865	K562	blood:	n/a
39	chr2:33585815-33585865	HRE	kidney:	n/a
40	chr2:33493596-33493646	K562	blood:	n/a
41	chr2:33541881-33541931	ProgFib	skin:	n/a
42	chr2:33518258-33518308	ProgFib	skin:	n/a
43	chr2:33500889-33500939	GM06990	blood:	n/a
44	chr2:33518258-33518308	SK-N-SH_RA	brain:	n/a
45	chr2:33546572-33546622	SAEC	small airway:	n/a
46	chr2:33500889-33500939	LNCaP	prostate:	n/a
47	chr2:33493596-33493646	H1-hESC	embryonic stem cell:	embryo
48	chr2:33493596-33493646	T-47D	breast:	n/a
49	chr2:33493596-33493646	NB4	blood:	n/a
50	chr2:33518258-33518308	HAEpiC	amniotic membrane:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:33582788..33585263-chr2:33585367..33587703,2	MCF-7	breast:
2	chr2:33260304..33260822-chr2:33495358..33496007,2	MCF-7	breast:
3	chr2:33549576..33552189-chr2:33559764..33561623,2	K562	blood:
4	chr2:33554971..33557326-chr2:33560751..33562954,2	K562	blood:
5	chr2:33521500..33523864-chr2:33524061..33525573,2	K562	blood:
6	chr2:33513308..33515964-chr2:33519124..33522873,3	K562	blood:
7	chr2:33514697..33516578-chr2:33527291..33531093,3	MCF-7	breast:
8	chr2:33508125..33510502-chr2:33516735..33518824,2	K562	blood:
9	chr2:33535893..33538848-chr2:33568377..33569947,2	MCF-7	breast:
10	chr2:33546250..33548887-chr2:33557480..33559960,2	MCF-7	breast:
11	chr17:41392284..41394674-chr2:33491310..33492810,2	K562	blood:
12	chr2:33489408..33492344-chr2:33493804..33495896,3	MCF-7	breast:
13	chr2:33585442..33588123-chr2:33592838..33594363,2	MCF-7	breast:
14	chr2:33483858..33485741-chr2:33487136..33490001,2	K562	blood:
15	chr2:33513308..33515964-chr2:33519124..33522873,3	K562	blood:
16	chr2:33554971..33557326-chr2:33560751..33562954,2	K562	blood:
17	chr17:41463791..41467360-chr2:33489830..33492830,6	K562	blood:
18	chr2:33534966..33536584-chr2:33559745..33561963,2	MCF-7	breast:
19	chr2:33259613..33260414-chr2:33495403..33496285,3	MCF-7	breast:
20	chr17:41400425..41402576-chr2:33491310..33492810,2	K562	blood:
21	chr2:33171933..33174048-chr2:33491328..33494220,2	MCF-7	breast:
22	chr2:33433197..33433753-chr2:33495397..33495934,2	MCF-7	breast:
23	chr2:33571757..33573919-chr2:33583040..33585706,2	MCF-7	breast:
24	chr2:33508471..33509397-chr2:33534003..33534531,2	K562	blood:
25	chr2:33521500..33523864-chr2:33524061..33525573,2	K562	blood:
26	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:
27	chr2:33505710..33509161-chr2:33514931..33517884,3	K562	blood:
28	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:
29	chr2:33508125..33510502-chr2:33516735..33518824,2	K562	blood:
30	chr2:33508471..33509397-chr2:33534003..33534531,2	K562	blood:
31	chr2:33169785..33172664-chr2:33500827..33503324,2	K562	blood:
32	chr2:33535893..33538848-chr2:33568377..33569947,2	MCF-7	breast:
33	chr2:33534966..33536584-chr2:33559745..33561963,2	MCF-7	breast:
34	chr2:33515586..33518253-chr2:33521124..33522863,2	MCF-7	breast:
35	chr2:33489408..33492344-chr2:33493804..33495896,3	MCF-7	breast:
36	chr2:33491310..33492830-chr3:73158437..73159956,2	K562	blood:
37	chr11:10828591..10831300-chr2:33575114..33576797,2	K562	blood:
38	chr2:33582788..33585263-chr2:33585367..33587703,2	MCF-7	breast:
39	chr2:33496051..33497746-chr2:33589877..33592347,2	MCF-7	breast:
40	chr2:33571757..33573919-chr2:33583040..33585706,2	MCF-7	breast:
41	chr2:33549576..33552189-chr2:33559764..33561623,2	K562	blood:
42	chr2:33514241..33517210-chr2:33520355..33523749,3	K562	blood:

No data

Variant related genes	Relation type
RNA5SP92	TF binding region
RNA5SP91	TF binding region
LTBP1	TF binding region
RNA5SP92	CpG island
RNA5SP91	CpG island
LTBP1	CpG island
ENSG00000049323	chromatin interactions
ENSG00000252246	chromatin interactions
ENSG00000206951	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000246308	chromatin interactions

Extended variants
information (count: 4444 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4444 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1812485	chr2:33489975-33489976	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577265367	chr2:33489986-33489987	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575198598	chr2:33490008-33490009	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539986491	chr2:33490018-33490019	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs5830254	chr2:33490026-33490027	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs3050379	chr2:33490039-33490040	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs963025	chr2:33490160-33490161	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571702295	chr2:33490179-33490180	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs817538	chr2:33490180-33490181	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573794510	chr2:33490210-33490211	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370891440	chr2:33490224-33490225	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148731157	chr2:33490349-33490350	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562803729	chr2:33490360-33490361	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78055926	chr2:33490404-33490405	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545310758	chr2:33490460-33490461	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189009489	chr2:33490487-33490488	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144831952	chr2:33490560-33490561	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533340058	chr2:33490561-33490562	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547148588	chr2:33490572-33490573	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566819245	chr2:33490583-33490584	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529513099	chr2:33490585-33490586	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549263857	chr2:33490596-33490597	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540070504	chr2:33490619-33490620	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147920167	chr2:33490636-33490637	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374593577	chr2:33490664-33490665	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141879555	chr2:33490680-33490681	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561384530	chr2:33490696-33490697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75980421	chr2:33490705-33490706	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145689680	chr2:33490759-33490760	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533530990	chr2:33490761-33490762	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375339210	chr2:33490769-33490770	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151111819	chr2:33490793-33490794	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545331683	chr2:33490796-33490797	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191399237	chr2:33490819-33490820	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536453442	chr2:33490838-33490839	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553822238	chr2:33490876-33490877	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576301066	chr2:33490904-33490905	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545349780	chr2:33490929-33490930	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565160067	chr2:33490931-33490932	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114313548	chr2:33490948-33490949	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78761458	chr2:33491023-33491024	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560639055	chr2:33491028-33491029	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532787666	chr2:33491044-33491045	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529328666	chr2:33491073-33491074	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370142162	chr2:33491075-33491076	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549450265	chr2:33491107-33491108	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140745850	chr2:33491123-33491124	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374025925	chr2:33491135-33491136	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370703522	chr2:33491198-33491199	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551693883	chr2:33491206-33491207	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1675 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
4	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33471800-33491200	Weak transcription	Pancreas	Pancrea
6	chr2:33472000-33491200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
8	chr2:33472400-33491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33474000-33491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33474200-33491200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:33474400-33490000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:33476200-33490000	Weak transcription	Esophagus	oesophagus
14	chr2:33476200-33490000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:33476200-33491000	Weak transcription	Gastric	stomach
16	chr2:33477400-33491000	Weak transcription	Fetal Stomach	stomach
17	chr2:33478000-33491000	Weak transcription	Lung	lung
18	chr2:33478800-33491200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:33483800-33491000	Weak transcription	Left Ventricle	heart
20	chr2:33485000-33490200	Weak transcription	Fetal Heart	heart
21	chr2:33486600-33491200	Weak transcription	K562	blood
22	chr2:33486600-33493400	Weak transcription	Fetal Kidney	kidney
23	chr2:33486800-33490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:33487000-33491000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:33487200-33490200	Strong transcription	NH-A	brain
27	chr2:33487200-33491200	Weak transcription	Brain Angular Gyrus	brain
28	chr2:33487200-33492200	Weak transcription	Right Atrium	heart
29	chr2:33487400-33490000	Weak transcription	Fetal Lung	lung
30	chr2:33487400-33491000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:33487600-33491000	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:33487600-33491000	Weak transcription	NHDF-Ad	bronchial
33	chr2:33487800-33490000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:33487800-33492000	Strong transcription	Osteobl	bone
35	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
36	chr2:33488000-33491000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:33488000-33491400	Strong transcription	HUVEC	blood vessel
38	chr2:33488200-33490600	Strong transcription	Ovary	ovary
39	chr2:33488200-33492400	Strong transcription	Liver	Liver
40	chr2:33488600-33490000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:33488600-33490000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:33488600-33491000	Weak transcription	NHLF	lung
43	chr2:33488800-33491000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:33489600-33491200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:33489600-33491200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:33489600-33491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:33489800-33490000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:33489800-33490200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:33489800-33490200	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:33489800-33490400	Genic enhancers	Stomach Smooth Muscle	stomach

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