Variant report

Variant	nsv874079
Chromosome Location	chr2:51935797-52083566
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	chr2:51985283-51985521	HepG2	liver:	n/a	n/a
2	BACH1	chr2:52013621-52013717	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr2:52040441-52040852	HCT-116	colon:	n/a	n/a
4	CEBPB	chr2:52017155-52017401	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:52051683-52051729	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:52057394-52057709	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:51949392-51949848	Hela-S3	cervix:	n/a	chr2:51949481-51949494
8	CEBPB	chr2:51961333-51961671	MCF-7	breast:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
9	CEBPB	chr2:51953458-51953804	HepG2	liver:	n/a	chr2:51953644-51953655
10	CEBPB	chr2:51961212-51961669	Hela-S3	cervix:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
11	CEBPB	chr2:51948013-51948351	IMR90	lung:	n/a	chr2:51948187-51948198 chr2:51948186-51948197 chr2:51948186-51948199
12	CEBPB	chr2:51991789-51992037	IMR90	lung:	n/a	chr2:51991926-51991937
13	CEBPB	chr2:51946954-51947153	A549	lung:	n/a	chr2:51947075-51947086 chr2:51947074-51947087
14	CEBPB	chr2:52010535-52010824	HepG2	liver:	n/a	chr2:52010684-52010695
15	CEBPB	chr2:52040288-52040929	HCT-116	colon:	n/a	n/a
16	CEBPB	chr2:51961256-51961645	HepG2	liver:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
17	CEBPB	chr2:51948011-51948353	HepG2	liver:	n/a	chr2:51948187-51948198 chr2:51948186-51948197 chr2:51948186-51948199
18	CEBPB	chr2:52020223-52020461	HepG2	liver:	n/a	chr2:52020327-52020338 chr2:52020277-52020288
19	CEBPB	chr2:51961252-51961644	IMR90	lung:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
20	CEBPB	chr2:51970610-51970891	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr2:51961271-51961631	A549	lung:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
22	CEBPB	chr2:51953571-51953750	K562	blood:	n/a	chr2:51953644-51953655
23	CEBPB	chr2:51961266-51961618	A549	lung:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
24	CEBPB	chr2:51949259-51949848	IMR90	lung:	n/a	chr2:51949481-51949494
25	CEBPB	chr2:51945948-51946375	IMR90	lung:	n/a	chr2:51946099-51946110
26	CEBPB	chr2:51961333-51961628	H1-hESC	embryonic stem cell:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
27	CEBPB	chr2:51961349-51961584	ECC-1	luminal epithelium:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
28	CEBPB	chr2:51991752-51992063	HepG2	liver:	n/a	chr2:51991926-51991937
29	CEBPB	chr2:52010523-52010856	IMR90	lung:	n/a	chr2:52010684-52010695
30	CEBPB	chr2:51937165-51937475	A549	lung:	n/a	chr2:51937310-51937321
31	CEBPB	chr2:52020231-52020456	A549	lung:	n/a	chr2:52020327-52020338 chr2:52020277-52020288
32	CEBPB	chr2:51937137-51937466	IMR90	lung:	n/a	chr2:51937310-51937321
33	CEBPB	chr2:52040458-52040757	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:51948002-51948341	Hela-S3	cervix:	n/a	chr2:51948187-51948198 chr2:51948186-51948197 chr2:51948186-51948199
35	CEBPB	chr2:51953485-51953752	A549	lung:	n/a	chr2:51953644-51953655
36	CEBPB	chr2:52010516-52010845	A549	lung:	n/a	chr2:52010684-52010695
37	CEBPB	chr2:51961281-51961607	K562	blood:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
38	CEBPB	chr2:51961206-51961573	A549	lung:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
39	CEBPB	chr2:51961341-51961613	MCF-7	breast:	n/a	chr2:51961442-51961455 chr2:51961443-51961454 chr2:51961444-51961453 chr2:51961442-51961453 chr2:51961444-51961453 chr2:51961456-51961467 chr2:51961442-51961455 chr2:51961444-51961453 chr2:51961444-51961453
40	CEBPB	chr2:51948008-51948334	A549	lung:	n/a	chr2:51948187-51948198 chr2:51948186-51948197 chr2:51948186-51948199
41	CEBPB	chr2:51937138-51937473	HepG2	liver:	n/a	chr2:51937310-51937321
42	CEBPB	chr2:51991600-51992080	Hela-S3	cervix:	n/a	chr2:51991926-51991937
43	CEBPB	chr2:51946000-51946288	HepG2	liver:	n/a	chr2:51946099-51946110
44	CEBPB	chr2:52020207-52020467	IMR90	lung:	n/a	chr2:52020327-52020338 chr2:52020277-52020288
45	CEBPB	chr2:52057437-52057715	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:51953346-51953768	IMR90	lung:	n/a	chr2:51953644-51953655
47	CEBPB	chr2:52051511-52051735	A549	lung:	n/a	n/a
48	CEBPB	chr2:51947048-51947099	HepG2	liver:	n/a	chr2:51947075-51947086 chr2:51947074-51947087
49	CEBPB	chr2:52040436-52040772	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr2:52052956-52053358	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:52039654-52039704	SKMC	muscle:	n/a
2	chr2:52007665-52007715	NB4	blood:	n/a
3	chr2:52007582-52007632	SK-N-SH	brain:	n/a
4	chr2:52007582-52007632	RPTEC	kidney:	n/a
5	chr2:52006728-52006778	MCF10A-Er-Src	breast:	n/a
6	chr2:52007582-52007632	GM19239	blood:	n/a
7	chr2:52007582-52007632	AG04449	skin:	fetal
8	chr2:52007665-52007715	HCF	heart:	n/a
9	chr2:52007665-52007715	HNPCEpiC	eye:	n/a
10	chr2:52006728-52006778	Caco-2	colon:	n/a
11	chr2:52007665-52007715	NH-A	brain:	n/a
12	chr2:52006728-52006778	SK-N-SH_RA	brain:	n/a
13	chr2:52006728-52006778	AG09309	skin:	n/a
14	chr2:52006728-52006778	HAEpiC	amniotic membrane:	n/a
15	chr2:52007665-52007715	RPTEC	kidney:	n/a
16	chr2:52006728-52006778	HRCEpiC	kidney:	n/a
17	chr2:52006728-52006778	HepG2	liver:	n/a
18	chr2:52007665-52007715	GM06990	blood:	n/a
19	chr2:52007665-52007715	SKMC	muscle:	n/a
20	chr2:52007582-52007632	HCM	heart:	n/a
21	chr2:52007582-52007632	HEEpiC	esophagus:	n/a
22	chr2:52039654-52039704	HCT-116	colon:	n/a
23	chr2:52006728-52006778	HEEpiC	esophagus:	n/a
24	chr2:52006728-52006778	ovcar-3	ovarian:	n/a
25	chr2:52039654-52039704	HEEpiC	esophagus:	n/a
26	chr2:52006728-52006778	AG10803	skin:	n/a
27	chr2:52039654-52039704	HRCEpiC	kidney:	n/a
28	chr2:52039654-52039704	HAEpiC	amniotic membrane:	n/a
29	chr2:52006728-52006778	AoSMC	blood vessel:	n/a
30	chr2:52006728-52006778	HCPEpiC	choroid plexus:	n/a
31	chr2:52039654-52039704	BJ	skin:	n/a
32	chr2:52039654-52039704	HUVEC	blood vessel:	n/a
33	chr2:52007665-52007715	MCF10A-Er-Src	breast:	n/a
34	chr2:52039654-52039704	T-47D	breast:	n/a
35	chr2:52006728-52006778	HCM	heart:	n/a
36	chr2:52007582-52007632	HCF	heart:	n/a
37	chr2:52006728-52006778	HEK293	kidney:	embryo
38	chr2:52007582-52007632	PANC-1	pancreas:	n/a
39	chr2:52006728-52006778	AG04449	skin:	fetal
40	chr2:52007582-52007632	Jurkat	blood:	n/a
41	chr2:52007665-52007715	GM12878	blood:	n/a
42	chr2:52007665-52007715	HUVEC	blood vessel:	n/a
43	chr2:52007665-52007715	HL-60	blood:	n/a
44	chr2:52007665-52007715	A549	lung:	n/a
45	chr2:52006728-52006778	IMR90	lung:	fetal
46	chr2:52007582-52007632	NB4	blood:	n/a
47	chr2:52006728-52006778	LNCaP	prostate:	n/a
48	chr2:52039654-52039704	AG09319	gingival:	n/a
49	chr2:52007665-52007715	BJ	skin:	n/a
50	chr2:52007665-52007715	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
2	chr2:52013693..52015857-chr2:52040010..52042547,2	K562	blood:
3	chr2:51968237..51969919-chr2:51972902..51975746,2	K562	blood:
4	chr2:52002782..52005199-chr2:52008928..52011159,2	K562	blood:
5	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
6	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
7	2:51942985-51943865..2:51943983-51944747	GM12878	blood:
8	2:51664217-51674289..2:52006946-52008886	H1-hESC	embryonic stem cell:	embryo
9	2:51944747-51949775..2:51949775-51950900	K562	blood:
10	chr2:51969395..51971476-chr2:51980845..51983747,2	K562	blood:
11	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
12	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
13	2:51664217-51674289..2:51983874-51990011	GM12878	blood:
14	chr2:51940386..51941886-chr2:153576119..153578677,2	K562	blood:
15	chr2:50756714..50757394-chr2:52022672..52023233,2	MCF-7	breast:
16	chr2:52069239..52070064-chr8:36656303..36657160,2	MCF-7	breast:
17	2:51942985-51943865..2:51943983-51944747	GM12878	blood:
18	2:51745267-51754233..2:52043624-52043909	K562	blood:
19	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
20	2:52043909-52049825..2:52049825-52050373	K562	blood:
21	2:51681598-51686731..2:51983874-51990011	GM12878	blood:
22	chr2:52002782..52005199-chr2:52008928..52011159,2	K562	blood:
23	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
24	chr2:51969395..51971476-chr2:51980845..51983747,2	K562	blood:
25	chr11:63952383..63953021-chr2:52077502..52078002,2	Hela-S3	cervix:
26	2:51755125-51764739..2:52034460-52043624	K562	blood:
27	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
28	2:52043909-52049825..2:52049825-52050373	K562	blood:
29	chr2:52013693..52015857-chr2:52040010..52042547,2	K562	blood:
30	2:51664217-51674289..2:51942985-51943865	H1-hESC	embryonic stem cell:	embryo
31	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
32	chr2:51968237..51969919-chr2:51972902..51975746,2	K562	blood:
33	2:51944747-51949775..2:51949775-51950900	K562	blood:
34	2:51664217-51674289..2:51974300-51979334	H1-hESC	embryonic stem cell:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:51989227-51989312	ENSG00000231918.1

Variant related genes	Relation type
CRYGGP	TF binding region
CRYGGP	CpG island
ENSG00000168439	chromatin interactions
ENSG00000177917	chromatin interactions

Extended variants
information (count: 2773 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2773 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11896915	chr2:51935797-51935798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572148431	chr2:51935803-51935804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369242726	chr2:51935810-51935811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75515965	chr2:51935838-51935839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10182761	chr2:51935844-51935845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17874928	chr2:51935903-51935904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186518773	chr2:51935925-51935926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571907263	chr2:51935967-51935968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539006234	chr2:51935969-51935970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572082534	chr2:51935988-51935989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572076259	chr2:51940403-51940404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542649549	chr2:51940407-51940408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182635242	chr2:51940462-51940463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140978273	chr2:51940463-51940464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543591867	chr2:51940473-51940474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12478929	chr2:51940527-51940528	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375476868	chr2:51940538-51940539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12470943	chr2:51940551-51940552	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372716787	chr2:51940553-51940554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559505480	chr2:51940560-51940561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12475198	chr2:51940564-51940565	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370590595	chr2:51940613-51940614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567940334	chr2:51940614-51940615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28965475	chr2:51940633-51940634	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150212005	chr2:51940696-51940697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2354387	chr2:51940718-51940719	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539238433	chr2:51940719-51940720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553835215	chr2:51940747-51940748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572232757	chr2:51940753-51940754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138900794	chr2:51940759-51940760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570873311	chr2:51940782-51940783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528553794	chr2:51940820-51940821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371013134	chr2:51940828-51940829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543304898	chr2:51940850-51940851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565206386	chr2:51940915-51940916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375567032	chr2:51940920-51940921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34006885	chr2:51940922-51940923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572863300	chr2:51940949-51940950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111977034	chr2:51941028-51941029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532216303	chr2:51941032-51941033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111277888	chr2:51941038-51941039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2354388	chr2:51941039-51941040	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559111056	chr2:51941047-51941048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186958351	chr2:51941048-51941049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148970877	chr2:51941086-51941087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12472024	chr2:51941087-51941088	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2354389	chr2:51941119-51941120	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35023785	chr2:51941227-51941228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530552605	chr2:51941254-51941255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550175544	chr2:51941285-51941286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51934600-51936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:51943800-51944200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:51943800-51945200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:51944000-51944600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:51944200-51944600	Enhancers	Hela-S3	cervix
6	chr2:51944200-51945000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:51944200-51945000	Enhancers	Osteobl	bone
8	chr2:51944400-51944800	Enhancers	NH-A	brain
9	chr2:51944600-51949000	Weak transcription	Hela-S3	cervix
10	chr2:51945000-51945200	Enhancers	NHDF-Ad	bronchial
11	chr2:51945200-51945800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:51945600-51947000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:51945800-51946000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:51947000-51950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:51949000-51950000	Enhancers	Hela-S3	cervix
16	chr2:51950600-51951200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:51952000-51952400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:51952000-51952400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:51952200-51952600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:51984400-51985800	Enhancers	Hela-S3	cervix
21	chr2:51986600-51987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:51987200-51987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:51987800-51988000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:51999600-52001800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:52001800-52002200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:52005600-52007000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:52005600-52007000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:52005800-52006800	ZNF genes & repeats	HepG2	liver
29	chr2:52006000-52006400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:52006000-52006400	Active TSS	Osteobl	bone
31	chr2:52006800-52008000	Weak transcription	HepG2	liver
32	chr2:52006800-52011000	Weak transcription	Right Atrium	heart
33	chr2:52007000-52009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:52008000-52008400	ZNF genes & repeats	HepG2	liver
35	chr2:52008800-52009400	Enhancers	Fetal Brain Male	brain
36	chr2:52009000-52012000	Enhancers	Fetal Heart	heart
37	chr2:52009400-52009800	Weak transcription	Fetal Brain Male	brain
38	chr2:52009400-52009800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:52009400-52010800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:52009800-52010200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:52009800-52011400	Enhancers	Fetal Brain Male	brain
42	chr2:52010000-52010400	Enhancers	Fetal Brain Female	brain
43	chr2:52010000-52010600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:52010000-52010600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:52010000-52010600	Enhancers	HMEC	breast
46	chr2:52010200-52010600	Enhancers	NHDF-Ad	bronchial
47	chr2:52010200-52010800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:52010200-52010800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:52010200-52011000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:52011000-52011600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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