Variant report

Variant	esv3422715
Chromosome Location	chr2:173940006-173942054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:624)
CpG islands
(count:796)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:173941430-173941480	K562	blood:	n/a	n/a
2	ARID3A	chr2:173940561-173940582	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:173940486-173940629	K562	blood:	n/a	n/a
4	ARID3A	chr2:173941704-173942309	K562	blood:	n/a	n/a
5	ATF2	chr2:173941100-173942011	GM12878	blood:	n/a	n/a
6	BACH1	chr2:173940230-173941224	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:173941522-173941698	K562	blood:	n/a	n/a
8	BACH1	chr2:173940313-173940720	K562	blood:	n/a	n/a
9	BATF	chr2:173941594-173942010	GM12878	blood:	n/a	n/a
10	BCLAF1	chr2:173941452-173942055	GM12878	blood:	n/a	chr2:173941453-173941462
11	BCLAF1	chr2:173940271-173941285	GM12878	blood:	n/a	chr2:173940423-173940436
12	BHLHE40	chr2:173940328-173941363	GM12878	blood:	n/a	chr2:173941103-173941119 chr2:173940415-173940431 chr2:173941091-173941107 chr2:173941047-173941063
13	BHLHE40	chr2:173940294-173941482	K562	blood:	n/a	chr2:173941103-173941119 chr2:173940415-173940431 chr2:173941091-173941107 chr2:173941047-173941063
14	BRCA1	chr2:173940768-173941156	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr2:173940841-173941064	HepG2	liver:	n/a	n/a
16	CBX3	chr2:173940314-173940757	K562	blood:	n/a	n/a
17	CCNT2	chr2:173940236-173941609	K562	blood:	n/a	n/a
18	CEBPB	chr2:173940417-173940656	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr2:173940510-173940880	HepG2	liver:	n/a	n/a
20	CHD1	chr2:173940517-173940937	GM12878	blood:	n/a	chr2:173940771-173940781
21	CHD1	chr2:173939685-173944195	IMR90	lung:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
22	CHD1	chr2:173941184-173941858	GM12878	blood:	n/a	n/a
23	CHD1	chr2:173940766-173941748	H1-hESC	embryonic stem cell:	n/a	chr2:173940771-173940781
24	CHD2	chr2:173940342-173941229	Hela-S3	cervix:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
25	CHD2	chr2:173940513-173941495	HepG2	liver:	n/a	chr2:173940771-173940781
26	CHD2	chr2:173940121-173941570	K562	blood:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
27	CHD2	chr2:173940477-173941264	GM12878	blood:	n/a	chr2:173940491-173940501 chr2:173940771-173940781
28	CHD2	chr2:173940648-173941227	H1-hESC	embryonic stem cell:	n/a	chr2:173940771-173940781
29	CREB1	chr2:173940133-173941600	HepG2	liver:	n/a	n/a
30	CREB1	chr2:173940307-173940909	A549	lung:	n/a	n/a
31	CTBP2	chr2:173940292-173941631	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:173940480-173940630	GM12871	blood:	n/a	n/a
33	CTCF	chr2:173940480-173940630	GM12875	blood:	n/a	n/a
34	CTCF	chr2:173940423-173940668	ProgFib	skin:	n/a	n/a
35	CTCF	chr2:173940460-173940610	HMEC	breast:	n/a	n/a
36	CTCF	chr2:173940362-173940748	K562	blood:	n/a	n/a
37	CTCF	chr2:173940480-173940630	HMF	breast:	n/a	n/a
38	CTCF	chr2:173940465-173940624	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr2:173941340-173941490	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:173940480-173940630	GM12867	blood:	n/a	n/a
41	CTCF	chr2:173940480-173940630	HMEC	breast:	n/a	n/a
42	CTCF	chr2:173940480-173940630	RPTEC	kidney:	n/a	n/a
43	CTCF	chr2:173940480-173940630	AG04449	skin:	n/a	n/a
44	CTCF	chr2:173940359-173940747	IMR90	lung:	n/a	n/a
45	CTCF	chr2:173940480-173940630	K562	blood:	n/a	n/a
46	CTCF	chr2:173940418-173940633	K562	blood:	n/a	n/a
47	CTCF	chr2:173940500-173940650	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr2:173940418-173940667	LNCaP	prostate:	n/a	n/a
49	CTCF	chr2:173940418-173940656	GM10266	blood:	n/a	n/a
50	CTCF	chr2:173940423-173940666	Gliobla	brain:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:173940432-173940482	AG09319	gingival:	n/a
2	chr2:173941406-173941456	HEK293	kidney:	embryo
3	chr2:173940268-173940318	BJ	skin:	n/a
4	chr2:173940432-173940482	AG09319	gingival:	n/a
5	chr2:173941406-173941456	HEK293	kidney:	embryo
6	chr2:173940268-173940318	BJ	skin:	n/a
7	chr2:173941481-173941531	BJ	skin:	n/a
8	chr2:173941406-173941456	BE2_C	brain:	n/a
9	chr2:173941481-173941531	H1-hESC	embryonic stem cell:	embryo
10	chr2:173941045-173941095	Hepatocyte	liver:	n/a
11	chr2:173940561-173940611	CMK	blood:	n/a
12	chr2:173940639-173940689	SKMC	muscle:	n/a
13	chr2:173941481-173941531	HEK293	kidney:	embryo
14	chr2:173940268-173940318	HNPCEpiC	eye:	n/a
15	chr2:173941167-173941217	MCF10A-Er-Src	breast:	n/a
16	chr2:173941167-173941217	ProgFib	skin:	n/a
17	chr2:173940432-173940482	HCM	heart:	n/a
18	chr2:173940639-173940689	HEK293	kidney:	embryo
19	chr2:173940582-173940632	BE2_C	brain:	n/a
20	chr2:173941481-173941531	ECC-1	luminal epithelium:	n/a
21	chr2:173940268-173940318	AoSMC	blood vessel:	n/a
22	chr2:173941481-173941531	GM12878	blood:	n/a
23	chr2:173941481-173941531	SK-N-MC	brain:	n/a
24	chr2:173941406-173941456	RPTEC	kidney:	n/a
25	chr2:173941575-173941625	SAEC	small airway:	n/a
26	chr2:173940582-173940632	HNPCEpiC	eye:	n/a
27	chr2:173941406-173941456	T-47D	breast:	n/a
28	chr2:173940432-173940482	HCT-116	colon:	n/a
29	chr2:173940268-173940318	LNCaP	prostate:	n/a
30	chr2:173941167-173941217	HEK293	kidney:	embryo
31	chr2:173940277-173940327	NH-A	brain:	n/a
32	chr2:173940639-173940689	GM12891	blood:	n/a
33	chr2:173940203-173940253	IMR90	lung:	fetal
34	chr2:173941575-173941625	U87	brain:	n/a
35	chr2:173940430-173940480	HEEpiC	esophagus:	n/a
36	chr2:173940203-173940253	GM12891	blood:	n/a
37	chr2:173941406-173941456	Jurkat	blood:	n/a
38	chr2:173940639-173940689	ovcar-3	ovarian:	n/a
39	chr2:173940639-173940689	LNCaP	prostate:	n/a
40	chr2:173940268-173940318	HepG2	liver:	n/a
41	chr2:173941167-173941217	AG10803	skin:	n/a
42	chr2:173940561-173940611	HAEpiC	amniotic membrane:	n/a
43	chr2:173940430-173940480	AG04449	skin:	fetal
44	chr2:173941167-173941217	PrEC	prostate:	n/a
45	chr2:173940277-173940327	HNPCEpiC	eye:	n/a
46	chr2:173941481-173941531	HIPEpiC	eye:	n/a
47	chr2:173941167-173941217	HCT-116	colon:	n/a
48	chr2:173940203-173940253	HEK293	kidney:	embryo
49	chr2:173940203-173940253	SKMC	muscle:	n/a
50	chr2:173941481-173941531	NB4	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173939725..173941702-chr2:174219358..174221001,2	MCF-7	breast:
2	chr2:173941095..173943931-chr2:174073550..174075773,3	MCF-7	breast:
3	chr2:173939442..173941828-chr2:174218952..174221644,4	K562	blood:
4	chr19:41119049..41119660-chr2:173940484..173941219,2	HCT-116	colon:
5	chr2:173925105..173930317-chr2:173940081..173942061,4	MCF-7	breast:
6	chr2:173939894..173941691-chr2:174070697..174073381,2	K562	blood:
7	chr2:173940670..173941204-chr9:15422600..15423282,2	Hela-S3	cervix:
8	chr2:173939873..173942564-chr2:174828139..174830300,2	K562	blood:
9	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:
10	chr2:173939516..173941828-chr2:174218952..174221644,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091436	TF binding region
ENSG00000091436	CpG island
ENSG00000144354	chromatin interactions
ENSG00000238133	chromatin interactions
ENSG00000090006	chromatin interactions
ENSG00000164975	chromatin interactions
ENSG00000091428	chromatin interactions
ENSG00000265709	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000236391	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78443254	chr2:173940033-173940034	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs77552892	chr2:173940037-173940038	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs549388468	chr2:173940099-173940100	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs561659330	chr2:173940141-173940142	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs186452321	chr2:173940144-173940145	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs547193088	chr2:173940190-173940191	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs190365369	chr2:173940235-173940236	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs538754367	chr2:173940250-173940251	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs75407055	chr2:173940255-173940256	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs374268642	chr2:173940320-173940321	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs536277050	chr2:173940352-173940353	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs528998325	chr2:173940361-173940362	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs116356985	chr2:173940388-173940389	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs573897456	chr2:173940418-173940419	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs576338994	chr2:173940437-173940438	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs145628330	chr2:173940438-173940439	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs553136771	chr2:173940494-173940495	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs183034670	chr2:173940574-173940575	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs545116438	chr2:173940598-173940599	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs563399109	chr2:173940610-173940611	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs62175800	chr2:173940620-173940621	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs542623624	chr2:173940693-173940694	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs112881438	chr2:173940695-173940696	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs112186302	chr2:173940696-173940697	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs561394716	chr2:173940707-173940708	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs73021619	chr2:173940741-173940742	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111401521	chr2:173940750-173940751	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs565126204	chr2:173940814-173940815	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs532611859	chr2:173940834-173940835	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs550640923	chr2:173940842-173940843	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs569045616	chr2:173940868-173940869	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs536221361	chr2:173940881-173940882	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs560381445	chr2:173940902-173940903	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs541207482	chr2:173940924-173940925	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs567402972	chr2:173940987-173940988	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs6746656	chr2:173941014-173941015	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs75059906	chr2:173941034-173941035	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs577910680	chr2:173941058-173941059	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs111471313	chr2:173941079-173941080	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs370053289	chr2:173941105-173941106	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs557057123	chr2:173941159-173941160	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs575433315	chr2:173941160-173941161	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs190664542	chr2:173941210-173941211	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs560945343	chr2:173941218-173941219	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs183859647	chr2:173941222-173941223	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs540916910	chr2:173941261-173941262	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs77040267	chr2:173941339-173941340	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs563137420	chr2:173941340-173941341	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs532554720	chr2:173941383-173941384	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs544419390	chr2:173941420-173941421	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
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
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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173938800-173940200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:173938800-173940400	Enhancers	Fetal Heart	heart
3	chr2:173939600-173940200	Enhancers	Psoas Muscle	Psoas
4	chr2:173939600-173940200	Enhancers	NHDF-Ad	bronchial
5	chr2:173939600-173940400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr2:173939800-173940200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr2:173939800-173940200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:173939800-173940200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:173939800-173940200	Enhancers	Fetal Lung	lung
10	chr2:173939800-173940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:173939800-173940400	Flanking Active TSS	A549	lung
12	chr2:173939800-173940600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:173939800-173940600	Flanking Active TSS	Dnd41	blood
14	chr2:173939800-173940600	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr2:173940000-173940200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:173940000-173940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr2:173940000-173940200	Enhancers	Primary T cells from cord blood	blood
21	chr2:173940000-173940200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr2:173940000-173940200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:173940000-173940200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:173940000-173940200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:173940000-173940200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:173940000-173940200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:173940000-173940200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:173940000-173940200	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:173940000-173940200	Active TSS	Brain Hippocampus Middle	brain
30	chr2:173940000-173940200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr2:173940000-173940200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr2:173940000-173940200	Flanking Active TSS	Fetal Brain Female	brain
33	chr2:173940000-173940200	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr2:173940000-173940200	Enhancers	Placenta	Placenta
35	chr2:173940000-173940200	Flanking Active TSS	Left Ventricle	heart
36	chr2:173940000-173940200	Enhancers	Pancreas	Pancrea
37	chr2:173940000-173940200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:173940000-173940200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
39	chr2:173940000-173940200	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:173940000-173940200	Flanking Active TSS	Right Atrium	heart
41	chr2:173940000-173940200	Active TSS	Right Ventricle	heart
42	chr2:173940000-173940200	Enhancers	Small Intestine	intestine
43	chr2:173940000-173940200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:173940000-173940200	Enhancers	HSMM	muscle
46	chr2:173940000-173940200	Enhancers	NHLF	lung
47	chr2:173940000-173940400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:173940000-173940400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:173940000-173940400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr2:173940000-173940400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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