Variant report

Variant	esv3437193
Chromosome Location	chr2:185461732-185464880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:239)
CpG islands
(count:854)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:239 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:185461625-185462095	HepG2	liver:	n/a	n/a
2	BACH1	chr2:185462885-185463671	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr2:185463050-185463547	K562	blood:	n/a	n/a
4	CEBPB	chr2:185463597-185463898	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:185463135-185464207	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:185463613-185463875	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr2:185463609-185463774	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:185463558-185463908	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:185463607-185463886	K562	blood:	n/a	n/a
10	CEBPB	chr2:185463596-185463906	A549	lung:	n/a	n/a
11	CEBPB	chr2:185463483-185463881	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr2:185461581-185462119	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:185463494-185463866	MCF-7	breast:	n/a	n/a
14	CEBPB	chr2:185463572-185463906	K562	blood:	n/a	n/a
15	CHD1	chr2:185463617-185463741	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:185464400-185464550	GM12870	blood:	n/a	n/a
17	CTCF	chr2:185462880-185463030	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr2:185462997-185463105	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:185463479-185463593	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:185463477-185463590	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:185463525-185463563	GM19239	blood:	n/a	n/a
22	CTCF	chr2:185462990-185463065	GM19238	blood:	n/a	n/a
23	CTCF	chr2:185463480-185463630	GM12871	blood:	n/a	n/a
24	CTCF	chr2:185461600-185461750	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:185462991-185463100	Fibrobl	skin:	n/a	n/a
26	CTCF	chr2:185463456-185463583	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:185463100-185463250	GM12867	blood:	n/a	n/a
28	CTCF	chr2:185462380-185462530	GM12873	blood:	n/a	n/a
29	CTCF	chr2:185463380-185463530	BJ	skin:	n/a	n/a
30	CTCF	chr2:185463492-185463576	GM12892	blood:	n/a	n/a
31	CTCF	chr2:185463360-185463510	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr2:185461520-185461790	GM12867	blood:	n/a	n/a
33	CTCF	chr2:185463020-185463170	GM12875	blood:	n/a	n/a
34	CTCF	chr2:185461395-185461791	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:185462340-185462490	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr2:185464300-185464450	GM12872	blood:	n/a	n/a
37	CTCF	chr2:185464020-185464170	HAc	cerebellar:	n/a	n/a
38	CTCF	chr2:185463017-185463082	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:185461514-185461745	GM12878	blood:	n/a	n/a
40	CTCF	chr2:185463221-185463280	GM19239	blood:	n/a	n/a
41	CTCF	chr2:185463400-185463550	AG04449	skin:	n/a	n/a
42	CTCF	chr2:185463440-185463590	GM12873	blood:	n/a	n/a
43	CTCF	chr2:185463400-185463550	AG09319	gingival:	n/a	n/a
44	CTCF	chr2:185463340-185463490	GM12868	blood:	n/a	n/a
45	CTCF	chr2:185463442-185463616	GM12891	blood:	n/a	n/a
46	CTCF	chr2:185463017-185463104	GM12891	blood:	n/a	n/a
47	CTCF	chr2:185463480-185463630	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr2:185461447-185461851	IMR90	lung:	n/a	n/a
49	CTCF	chr2:185463360-185463510	GM12871	blood:	n/a	n/a
50	CTCF	chr2:185463011-185463090	GM19240	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:185462269-185462319	HUVEC	blood vessel:	n/a
2	chr2:185462397-185462447	U87	brain:	n/a
3	chr2:185462397-185462447	ovcar-3	ovarian:	n/a
4	chr2:185462847-185462897	Hepatocyte	liver:	n/a
5	chr2:185462269-185462319	HIPEpiC	eye:	n/a
6	chr2:185463583-185463633	NH-A	brain:	n/a
7	chr2:185462397-185462447	GM19239	blood:	n/a
8	chr2:185463583-185463633	K562	blood:	n/a
9	chr2:185462338-185462388	CMK	blood:	n/a
10	chr2:185463803-185463853	SAEC	small airway:	n/a
11	chr2:185462397-185462447	HMEC	breast:	n/a
12	chr2:185463209-185463259	AoSMC	blood vessel:	n/a
13	chr2:185462493-185462543	RPTEC	kidney:	n/a
14	chr2:185463218-185463268	HL-60	blood:	n/a
15	chr2:185462338-185462388	SK-N-SH_RA	brain:	n/a
16	chr2:185462847-185462897	SK-N-MC	brain:	n/a
17	chr2:185463218-185463268	AoSMC	blood vessel:	n/a
18	chr2:185462493-185462543	GM12892	blood:	n/a
19	chr2:185463218-185463268	A549	lung:	n/a
20	chr2:185462847-185462897	H1-hESC	embryonic stem cell:	embryo
21	chr2:185463588-185463638	SK-N-SH_RA	brain:	n/a
22	chr2:185463583-185463633	HUVEC	blood vessel:	n/a
23	chr2:185462493-185462543	AG10803	skin:	n/a
24	chr2:185462269-185462319	CMK	blood:	n/a
25	chr2:185462269-185462319	NHDF-neo	bronchial:	n/a
26	chr2:185463583-185463633	Hela-S3	cervix:	n/a
27	chr2:185463583-185463633	SAEC	small airway:	n/a
28	chr2:185463132-185463182	BE2_C	brain:	n/a
29	chr2:185462847-185462897	GM19239	blood:	n/a
30	chr2:185462269-185462319	T-47D	breast:	n/a
31	chr2:185463132-185463182	K562	blood:	n/a
32	chr2:185462397-185462447	BJ	skin:	n/a
33	chr2:185463218-185463268	MCF-7	breast:	n/a
34	chr2:185462847-185462897	AG04449	skin:	fetal
35	chr2:185462928-185462978	GM06990	blood:	n/a
36	chr2:185463132-185463182	PANC-1	pancreas:	n/a
37	chr2:185463803-185463853	RPTEC	kidney:	n/a
38	chr2:185462397-185462447	NB4	blood:	n/a
39	chr2:185462847-185462897	LNCaP	prostate:	n/a
40	chr2:185462928-185462978	PrEC	prostate:	n/a
41	chr2:185462655-185462705	AoSMC	blood vessel:	n/a
42	chr2:185462655-185462705	HRE	kidney:	n/a
43	chr2:185462397-185462447	BE2_C	brain:	n/a
44	chr2:185462397-185462447	MCF-7	breast:	n/a
45	chr2:185463803-185463853	T-47D	breast:	n/a
46	chr2:185463209-185463259	HCPEpiC	choroid plexus:	n/a
47	chr2:185462269-185462319	HRCEpiC	kidney:	n/a
48	chr2:185462408-185462458	BE2_C	brain:	n/a
49	chr2:185463588-185463638	HRE	kidney:	n/a
50	chr2:185462338-185462388	AG04450	lung:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185462858..185464439-chr2:185464448..185466068,2	K562	blood:
2	chr2:185463901..185466082-chr2:185467270..185470429,3	K562	blood:
3	chr2:185458983..185461957-chr2:185463793..185466566,3	K562	blood:
4	chr2:185453309..185455260-chr2:185463848..185465666,2	K562	blood:
5	chr2:184113775..184114285-chr2:185461095..185461741,2	MCF-7	breast:
6	chr2:185464303..185465833-chr5:137804614..137806715,2	K562	blood:
7	chr2:185458983..185461957-chr2:185463793..185466566,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCKAP1-5	chr2:185462995-185463775	NONHSAT075952

No data

Variant related genes	Relation type
ZNF804A	TF binding region
ZNF804A	CpG island
ENSG00000170396	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141546257	chr2:185461754-185461755	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150878240	chr2:185461787-185461788	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138249256	chr2:185461830-185461831	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535717036	chr2:185461854-185461855	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557658512	chr2:185461912-185461913	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201698635	chr2:185461928-185461929	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575927843	chr2:185462003-185462004	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543443171	chr2:185462034-185462035	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs10497655	chr2:185462041-185462042	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs75250675	chr2:185462107-185462108	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs181641530	chr2:185462150-185462151	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541135246	chr2:185462168-185462169	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559554052	chr2:185462183-185462184	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529935207	chr2:185462225-185462226	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548481014	chr2:185462248-185462249	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184261027	chr2:185462262-185462263	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189506479	chr2:185462345-185462346	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs181846000	chr2:185462373-185462374	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs149644149	chr2:185462406-185462407	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs534754982	chr2:185462425-185462426	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs79196347	chr2:185462435-185462436	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs376010936	chr2:185462441-185462442	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs115976776	chr2:185462452-185462453	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs34714481	chr2:185462469-185462470	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186116778	chr2:185462485-185462486	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76089624	chr2:185462488-185462489	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545463021	chr2:185462540-185462541	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs190603112	chr2:185462566-185462567	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181484260	chr2:185462651-185462652	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576928463	chr2:185462653-185462654	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs373313184	chr2:185462691-185462692	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs375709887	chr2:185462698-185462699	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs370032910	chr2:185462752-185462753	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541098267	chr2:185462905-185462906	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs559517773	chr2:185462913-185462914	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs558662817	chr2:185462940-185462941	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs13384613	chr2:185463094-185463095	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs12990838	chr2:185463095-185463096	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs2279266	chr2:185463120-185463121	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12990699	chr2:185463170-185463171	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs12991193	chr2:185463171-185463172	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs530787345	chr2:185463175-185463176	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs12991199	chr2:185463178-185463179	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs552197952	chr2:185463182-185463183	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs359895	chr2:185463185-185463186	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528490500	chr2:185463226-185463227	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs538227522	chr2:185463268-185463269	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs1061999	chr2:185463270-185463271	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546670059	chr2:185463292-185463293	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568251935	chr2:185463298-185463299	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185461000-185461800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr2:185461200-185462600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr2:185461200-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:185461200-185466200	Active TSS	NHLF	lung
5	chr2:185461400-185461800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:185461400-185461800	Enhancers	HUVEC	blood vessel
7	chr2:185461400-185462000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
8	chr2:185461400-185462000	Active TSS	NH-A	brain
9	chr2:185461400-185462600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:185461400-185464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:185461400-185464000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:185461400-185466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:185461600-185461800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr2:185461600-185461800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
17	chr2:185461600-185461800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:185461600-185461800	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:185461600-185461800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
20	chr2:185461600-185462000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:185461600-185462000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:185461600-185462000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr2:185461600-185462000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:185461600-185462000	Enhancers	Liver	Liver
25	chr2:185461600-185462000	Enhancers	HSMM	muscle
26	chr2:185461600-185462000	Active TSS	Osteobl	bone
27	chr2:185461600-185462200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:185461600-185462200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr2:185461600-185462400	Bivalent Enhancer	HepG2	liver
30	chr2:185461600-185462600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr2:185461600-185463200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:185461600-185463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:185461600-185463800	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr2:185461600-185464000	Active TSS	Brain Angular Gyrus	brain
35	chr2:185461600-185464000	Active TSS	Brain Germinal Matrix	brain
36	chr2:185461600-185464000	Active TSS	Brain Substantia Nigra	brain
37	chr2:185461600-185464400	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:185461600-185464600	Active TSS	Brain Anterior Caudate	brain
39	chr2:185461600-185464600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:185461600-185465200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:185461600-185466200	Active TSS	Fetal Brain Female	brain
42	chr2:185461800-185462000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr2:185461800-185462000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:185461800-185462000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr2:185461800-185462000	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
46	chr2:185461800-185462000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:185461800-185462000	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr2:185461800-185462000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:185461800-185462000	Flanking Active TSS	HUVEC	blood vessel
50	chr2:185461800-185462000	Bivalent Enhancer	NHDF-Ad	bronchial

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