Variant report

Variant	nsv1014306
Chromosome Location	chr2:133252736-133402581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133304775-133304963	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:133389843-133390360	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:133304875-133304890	K562	blood:	n/a	n/a
4	BACH1	chr2:133381096-133381217	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:133333363-133333495	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:133388877-133389119	IMR90	lung:	n/a	chr2:133388962-133388973 chr2:133388963-133388972
7	CEBPB	chr2:133400081-133400327	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:133325933-133326035	IMR90	lung:	n/a	chr2:133325967-133325978
9	CEBPB	chr2:133388828-133389058	HepG2	liver:	n/a	chr2:133388962-133388973 chr2:133388963-133388972
10	CEBPB	chr2:133377773-133378094	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:133333292-133333484	A549	lung:	n/a	n/a
12	CEBPB	chr2:133325972-133325984	A549	lung:	n/a	n/a
13	CEBPB	chr2:133319880-133320042	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:133347693-133347799	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:133280625-133280665	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:133325882-133326055	HepG2	liver:	n/a	chr2:133325967-133325978
17	CTCF	chr2:133304800-133304950	NHDF-neo	bronchial:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
18	CTCF	chr2:133304380-133304530	RPTEC	kidney:	n/a	n/a
19	CTCF	chr2:133304800-133304950	HMF	breast:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
20	CTCF	chr2:133304480-133304630	GM12865	blood:	n/a	n/a
21	CTCF	chr2:133341260-133341410	HepG2	liver:	n/a	n/a
22	CTCF	chr2:133272705-133272777	GM12891	blood:	n/a	chr2:133272738-133272759 chr2:133272737-133272753
23	CTCF	chr2:133304800-133304950	NB4	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
24	CTCF	chr2:133304643-133304986	Gliobla	brain:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
25	CTCF	chr2:133304420-133304570	HEK293	kidney:	n/a	n/a
26	CTCF	chr2:133304780-133304930	HMF	breast:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
27	CTCF	chr2:133340180-133340330	AG04450	lung:	n/a	n/a
28	CTCF	chr2:133304800-133304950	HAc	cerebellar:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
29	CTCF	chr2:133396000-133396150	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:133304740-133304963	LNCaP	prostate:	n/a	chr2:133304857-133304870 chr2:133304857-133304866 chr2:133304854-133304872 chr2:133304856-133304877
31	CTCF	chr2:133304800-133304950	GM12865	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
32	CTCF	chr2:133304780-133304930	GM12870	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
33	CTCF	chr2:133302657-133302686	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:133304723-133304987	HUVEC	blood vessel:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
35	CTCF	chr2:133304780-133304930	NHDF-neo	bronchial:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
36	CTCF	chr2:133304540-133304690	WI-38	lung:	n/a	n/a
37	CTCF	chr2:133395940-133396090	NHEK	skin:	n/a	n/a
38	CTCF	chr2:133304780-133304930	RPTEC	kidney:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
39	CTCF	chr2:133304760-133304910	GM12871	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
40	CTCF	chr2:133304800-133304950	GM12870	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
41	CTCF	chr2:133304740-133304890	GM06990	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
42	CTCF	chr2:133304740-133304997	GM19238	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
43	CTCF	chr2:133304840-133304990	HRPEpiC	eye:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
44	CTCF	chr2:133304760-133304910	HepG2	liver:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
45	CTCF	chr2:133304719-133304992	K562	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
46	CTCF	chr2:133304792-133304954	MCF-7	breast:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
47	CTCF	chr2:133304659-133305019	H1-hESC	embryonic stem cell:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
48	CTCF	chr2:133304780-133304930	HUVEC	blood vessel:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
49	CTCF	chr2:133304780-133304930	SK-N-SH_RA	brain:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
50	CTCF	chr2:133272678-133272821	GM19240	blood:	n/a	chr2:133272738-133272759 chr2:133272737-133272753

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133343274-133343324	H1-hESC	embryonic stem cell:	embryo
2	chr2:133342286-133342336	HIPEpiC	eye:	n/a
3	chr2:133343274-133343324	H1-hESC	embryonic stem cell:	embryo
4	chr2:133342286-133342336	HIPEpiC	eye:	n/a
5	chr2:133402475-133402525	NHBE	bronchial:	n/a
6	chr2:133343618-133343668	GM12891	blood:	n/a
7	chr2:133342286-133342336	PANC-1	pancreas:	n/a
8	chr2:133343628-133343678	HIPEpiC	eye:	n/a
9	chr2:133346858-133346908	HCF	heart:	n/a
10	chr2:133339746-133339796	AG04449	skin:	fetal
11	chr2:133402475-133402525	ovcar-3	ovarian:	n/a
12	chr2:133343115-133343165	GM12891	blood:	n/a
13	chr2:133343618-133343668	ovcar-3	ovarian:	n/a
14	chr2:133342286-133342336	AG09309	skin:	n/a
15	chr2:133343618-133343668	Hela-S3	cervix:	n/a
16	chr2:133343628-133343678	HepG2	liver:	n/a
17	chr2:133402475-133402525	AG04449	skin:	fetal
18	chr2:133343149-133343199	HepG2	liver:	n/a
19	chr2:133363326-133363376	HNPCEpiC	eye:	n/a
20	chr2:133363326-133363376	RPTEC	kidney:	n/a
21	chr2:133378888-133378938	NH-A	brain:	n/a
22	chr2:133395195-133395245	MCF-7	breast:	n/a
23	chr2:133339746-133339796	HEK293	kidney:	embryo
24	chr2:133343115-133343165	U87	brain:	n/a
25	chr2:133343618-133343668	HUVEC	blood vessel:	n/a
26	chr2:133343149-133343199	HRCEpiC	kidney:	n/a
27	chr2:133402475-133402525	Caco-2	colon:	n/a
28	chr2:133400321-133400371	HAEpiC	amniotic membrane:	n/a
29	chr2:133343274-133343324	LNCaP	prostate:	n/a
30	chr2:133378888-133378938	SK-N-MC	brain:	n/a
31	chr2:133343149-133343199	PFSK-1	brain:	n/a
32	chr2:133346858-133346908	AG09319	gingival:	n/a
33	chr2:133378888-133378938	H1-hESC	embryonic stem cell:	embryo
34	chr2:133342838-133342888	A549	lung:	n/a
35	chr2:133400321-133400371	SKMC	muscle:	n/a
36	chr2:133400321-133400371	A549	lung:	n/a
37	chr2:133343149-133343199	AG04449	skin:	fetal
38	chr2:133342838-133342888	GM12891	blood:	n/a
39	chr2:133346858-133346908	NH-A	brain:	n/a
40	chr2:133400321-133400371	NH-A	brain:	n/a
41	chr2:133343115-133343165	SK-N-MC	brain:	n/a
42	chr2:133343149-133343199	BE2_C	brain:	n/a
43	chr2:133343115-133343165	MCF10A-Er-Src	breast:	n/a
44	chr2:133343657-133343707	NHDF-neo	bronchial:	n/a
45	chr2:133343115-133343165	AG04449	skin:	fetal
46	chr2:133339746-133339796	HAEpiC	amniotic membrane:	n/a
47	chr2:133363326-133363376	HCPEpiC	choroid plexus:	n/a
48	chr2:133343149-133343199	GM12891	blood:	n/a
49	chr2:133363326-133363376	PFSK-1	brain:	n/a
50	chr2:133339746-133339796	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:133395862..133396428-chr2:133427987..133428958,2	MCF-7	breast:
2	chr2:133339726..133340368-chr2:133369767..133370722,4	MCF-7	breast:
3	chr2:133304640..133305382-chr2:133928983..133929651,2	MCF-7	breast:
4	chr2:133312121..133314029-chr2:133316957..133319082,2	K562	blood:
5	chr2:133272961..133273729-chr2:133339881..133340586,2	MCF-7	breast:
6	chr2:133308087..133308889-chr2:133339718..133340292,2	MCF-7	breast:
7	chr2:133339874..133340573-chr2:133634427..133635308,3	MCF-7	breast:
8	chr2:133304368..133305326-chr2:134601553..134602523,5	K562	blood:
9	chr2:133339837..133340676-chr2:133369649..133370780,6	MCF-7	breast:
10	chr2:133274709..133277168-chr2:133277775..133280190,2	K562	blood:
11	chr2:133274709..133277168-chr2:133277775..133280190,2	K562	blood:
12	chr2:133312121..133314029-chr2:133316957..133319082,2	K562	blood:
13	chr2:133339726..133340597-chr2:133369688..133370670,9	MCF-7	breast:
14	chr2:133304353..133304857-chr2:134601593..134602264,2	MCF-7	breast:
15	chr2:133304259..133305229-chr2:133647133..133647703,2	MCF-7	breast:
16	chr2:133330055..133331591-chr2:133427502..133429942,2	MCF-7	breast:
17	chr2:133339726..133340368-chr2:133369767..133370722,4	MCF-7	breast:
18	chr2:133365422..133367697-chr2:133372701..133375493,2	MCF-7	breast:
19	chr2:133365422..133367697-chr2:133372701..133375493,2	MCF-7	breast:
20	chr2:133378124..133380903-chr2:133384457..133387356,3	MCF-7	breast:
21	chr2:133339837..133340676-chr2:133369649..133370780,6	MCF-7	breast:
22	chr2:133382584..133384682-chr2:133389653..133391195,2	K562	blood:
23	chr2:133339874..133340573-chr2:133634427..133634936,2	MCF-7	breast:
24	chr2:133339726..133340597-chr2:133369688..133370670,9	MCF-7	breast:
25	chr2:133339634..133341724-chr2:133426515..133429384,4	MCF-7	breast:
26	chr2:133340082..133340612-chr2:133355931..133356931,2	MCF-7	breast:
27	chr2:133360465..133364996-chr2:133365028..133367675,4	MCF-7	breast:
28	chr2:133340082..133340612-chr2:133355931..133356931,2	MCF-7	breast:
29	chr2:133395639..133398146-chr2:133561635..133563516,2	K562	blood:
30	chr2:133389250..133392013-chr2:133427739..133429260,2	MCF-7	breast:
31	chr2:133274387..133277041-chr2:133279166..133281960,2	MCF-7	breast:
32	chr2:133340023..133340581-chr2:134469532..134470151,2	MCF-7	breast:
33	chr2:133378124..133380903-chr2:133384457..133387356,3	MCF-7	breast:
34	chr2:133335745..133337645-chr2:133340420..133342351,2	K562	blood:
35	chr2:133124752..133127513-chr2:133337164..133339818,2	MCF-7	breast:
36	chr2:133382584..133384682-chr2:133389653..133391195,2	K562	blood:
37	chr2:133304031..133305145-chr2:133928594..133929580,6	MCF-7	breast:
38	chr2:133339903..133340611-chr2:134262125..134263083,2	MCF-7	breast:
39	chr2:133272961..133273729-chr2:133339881..133340586,2	MCF-7	breast:
40	chr2:133304876..133306446-chr2:133426520..133428307,2	MCF-7	breast:
41	chr2:133377218..133379513-chr2:133388415..133390069,2	MCF-7	breast:
42	chr2:133339779..133340732-chr2:133641136..133642087,4	MCF-7	breast:
43	chr2:133304762..133308062-chr2:133425978..133429369,3	MCF-7	breast:
44	chr2:133397006..133400489-chr2:133401960..133405775,6	MCF-7	breast:
45	chr2:133385017..133387688-chr2:133504938..133507093,2	K562	blood:
46	chr2:133335745..133337645-chr2:133340420..133342351,2	K562	blood:
47	chr2:133397006..133400489-chr2:133401960..133405775,6	MCF-7	breast:
48	chr2:133339765..133340550-chr2:133641463..133642066,3	MCF-7	breast:
49	chr2:133377218..133379513-chr2:133388415..133390069,2	MCF-7	breast:
50	chr2:133308087..133308889-chr2:133339718..133340292,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-5	chr2:133389626-133389694	ucscGeneNc_uc002ttr_2
2	lnc-C2orf27A-10	chr2:133281190-133281509	NONHSAT074537

Variant related genes	Relation type
GPR39	TF binding region
ENSG00000221142	TF binding region
RN7SKP103	TF binding region
GPR39	CpG island
ENSG00000221142	CpG island
RN7SKP103	CpG island
ENSG00000221142	chromatin interactions
ENSG00000200718	chromatin interactions
ENSG00000183840	chromatin interactions
ENSG00000150551	chromatin interactions

Extended variants
information (count: 5937 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5937 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558991121	chr2:133252793-133252794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529001860	chr2:133252814-133252815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144502233	chr2:133252850-133252851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11889178	chr2:133252854-133252855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147620586	chr2:133252875-133252876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570242979	chr2:133252955-133252956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533189087	chr2:133252963-133252964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144585420	chr2:133252965-133252966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577292298	chr2:133252999-133253000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111473370	chr2:133253003-133253004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186297642	chr2:133253025-133253026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534658674	chr2:133253043-133253044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114424798	chr2:133253053-133253054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568160707	chr2:133253063-133253064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10928421	chr2:133253086-133253087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112112952	chr2:133253158-133253159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575725343	chr2:133253175-133253176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540047782	chr2:133253177-133253178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568040939	chr2:133253180-133253181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558136403	chr2:133253199-133253200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373548859	chr2:133253205-133253206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191037071	chr2:133253209-133253210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16832308	chr2:133253243-133253244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561664586	chr2:133253278-133253279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553541266	chr2:133253285-133253286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377466890	chr2:133253292-133253293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182281033	chr2:133253335-133253336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185464725	chr2:133253342-133253343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562632798	chr2:133253348-133253349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532948764	chr2:133253353-133253354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142198960	chr2:133253356-133253357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375868876	chr2:133253358-133253359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551561974	chr2:133253361-133253362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560140845	chr2:133253364-133253365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4284884	chr2:133253386-133253387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs574703384	chr2:133253455-133253456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368091403	chr2:133253463-133253464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150957549	chr2:133253474-133253475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190180576	chr2:133253476-133253477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140900695	chr2:133253529-133253530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535483934	chr2:133253583-133253584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183376548	chr2:133253607-133253608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139125365	chr2:133253637-133253638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542073622	chr2:133253642-133253643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143209246	chr2:133253643-133253644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539053460	chr2:133253709-133253710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188066773	chr2:133253764-133253765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573527875	chr2:133253771-133253772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193040988	chr2:133253796-133253797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73001223	chr2:133253890-133253891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133233600-133261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133245000-133256200	Weak transcription	A549	lung
3	chr2:133252400-133252800	Weak transcription	Gastric	stomach
4	chr2:133252600-133254600	Enhancers	Fetal Brain Female	brain
5	chr2:133252800-133253000	Enhancers	Gastric	stomach
6	chr2:133253000-133254200	Weak transcription	Gastric	stomach
7	chr2:133253000-133255400	Enhancers	Fetal Brain Male	brain
8	chr2:133253400-133253800	Weak transcription	Pancreas	Pancrea
9	chr2:133254200-133254400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:133254200-133254400	Enhancers	Gastric	stomach
11	chr2:133254400-133256400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:133255000-133255600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:133255200-133255600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:133255200-133255800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:133255800-133261000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:133260800-133262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:133261000-133261600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:133261000-133262000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:133261000-133262200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:133261200-133261600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:133261200-133261600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:133261200-133261600	Enhancers	Stomach Mucosa	stomach
23	chr2:133261200-133261600	Enhancers	Hela-S3	cervix
24	chr2:133261200-133261800	Enhancers	HMEC	breast
25	chr2:133261400-133261600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:133261800-133262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:133262000-133280400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:133265800-133268200	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr2:133266000-133275000	Weak transcription	A549	lung
30	chr2:133266400-133267200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:133267200-133267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:133267600-133271600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:133268200-133282800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:133269400-133269600	Enhancers	Pancreas	Pancrea
35	chr2:133269400-133278400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:133269800-133271800	Weak transcription	Pancreas	Pancrea
37	chr2:133270200-133270800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:133271600-133272600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:133271800-133274400	Enhancers	Pancreas	Pancrea
40	chr2:133272400-133272800	Enhancers	Fetal Heart	heart
41	chr2:133272600-133272800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:133272800-133273600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:133272800-133278600	Weak transcription	Fetal Heart	heart
44	chr2:133273600-133274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:133274200-133274400	Enhancers	Placenta	Placenta
46	chr2:133274400-133280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:133274400-133283200	Weak transcription	Pancreas	Pancrea
48	chr2:133275000-133275200	Enhancers	A549	lung
49	chr2:133275000-133275400	Enhancers	NHEK	skin
50	chr2:133275400-133278600	Weak transcription	NHEK	skin

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