Variant report

Variant	esv1009248
Chromosome Location	chr12:66525948-66530263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr12:66526251-66526446	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:66526341-66526409	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:66526205-66526515	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:66526171-66526547	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr12:66526267-66526458	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:66526194-66526515	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr12:66526197-66526482	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr12:66526285-66526539	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr12:66526025-66526715	SK-N-SH	brain:	n/a	n/a
10	JUND	chr12:66526096-66526656	SK-N-SH	brain:	n/a	n/a
11	MEF2A	chr12:66526077-66526571	SK-N-SH	brain:	n/a	chr12:66526303-66526324 chr12:66526308-66526317 chr12:66526307-66526318 chr12:66526301-66526322 chr12:66526304-66526320 chr12:66526303-66526324 chr12:66526305-66526320
12	MYC	chr12:66526205-66526458	MCF10A-Er-Src	breast:	n/a	n/a
13	NR2F2	chr12:66529497-66529795	K562	blood:	n/a	n/a
14	NR2F2	chr12:66529377-66529833	K562	blood:	n/a	n/a
15	PAX5	chr12:66527766-66528075	GM12878	blood:	n/a	n/a
16	PAX5	chr12:66527781-66528051	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:66526160-66526954	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:66525935-66526403	U87	brain:	n/a	n/a
19	POLR2A	chr12:66525938-66526598	U87	brain:	n/a	n/a
20	POLR2A	chr12:66525944-66526592	U87	brain:	n/a	n/a
21	POLR2A	chr12:66526625-66526845	MCF-7	breast:	n/a	n/a
22	POLR2A	chr12:66523650-66526889	K562	blood:	n/a	n/a
23	POLR2A	chr12:66526323-66526578	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr12:66525935-66526584	U87	brain:	n/a	n/a
25	POLR2A	chr12:66526184-66526526	HCT-116	colon:	n/a	n/a
26	POLR2A	chr12:66526067-66526659	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr12:66526205-66526267	ProgFib	skin:	n/a	n/a
28	POLR2A	chr12:66525952-66526096	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:66526070-66526471	IMR90	lung:	n/a	n/a
30	POLR2A	chr12:66526451-66526482	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr12:66524161-66526647	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr12:66526024-66526559	HCT-116	colon:	n/a	n/a
33	POLR2A	chr12:66527879-66528115	A549	lung:	n/a	n/a
34	POLR2A	chr12:66526145-66526391	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:66526275-66526319	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr12:66526880-66526919	MCF-7	breast:	n/a	n/a
37	POLR2A	chr12:66527154-66527376	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:66526386-66526432	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:66526152-66526601	ECC-1	luminal epithelium:	n/a	n/a
40	STAT3	chr12:66526171-66526523	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr12:66526189-66526518	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr12:66526188-66526520	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr12:66526198-66526518	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr12:66526044-66526512	MCF10A-Er-Src	breast:	n/a	n/a
45	TAL1	chr12:66526382-66526437	K562	blood:	n/a	n/a
46	TBL1XR1	chr12:66526197-66526335	K562	blood:	n/a	n/a
47	TCF12	chr12:66526165-66526737	ECC-1	luminal epithelium:	n/a	n/a
48	TEAD4	chr12:66526103-66526701	ECC-1	luminal epithelium:	n/a	n/a
49	TEAD4	chr12:66526055-66526744	ECC-1	luminal epithelium:	n/a	n/a
50	ZNF384	chr12:66529888-66530042	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:66528416-66528466	HepG2	liver:	n/a
2	chr12:66528416-66528466	HCT-116	colon:	n/a
3	chr12:66528416-66528466	BJ	skin:	n/a
4	chr12:66528416-66528466	HCPEpiC	choroid plexus:	n/a
5	chr12:66528416-66528466	NB4	blood:	n/a
6	chr12:66528416-66528466	Jurkat	blood:	n/a
7	chr12:66528416-66528466	GM12891	blood:	n/a
8	chr12:66528416-66528466	PFSK-1	brain:	n/a
9	chr12:66528416-66528466	GM12892	blood:	n/a
10	chr12:66528416-66528466	NT2-D1	testis:	n/a
11	chr12:66528416-66528466	LNCaP	prostate:	n/a
12	chr12:66528416-66528466	T-47D	breast:	n/a
13	chr12:66528416-66528466	NHBE	bronchial:	n/a
14	chr12:66528416-66528466	BE2_C	brain:	n/a
15	chr12:66528416-66528466	HIPEpiC	eye:	n/a
16	chr12:66528416-66528466	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:66528416-66528466	K562	blood:	n/a
18	chr12:66528416-66528466	GM12878	blood:	n/a
19	chr12:66528416-66528466	Hepatocyte	liver:	n/a
20	chr12:66528416-66528466	HRCEpiC	kidney:	n/a
21	chr12:66528416-66528466	MCF-7	breast:	n/a
22	chr12:66528416-66528466	AG09309	skin:	n/a
23	chr12:66528416-66528466	CMK	blood:	n/a
24	chr12:66528416-66528466	HCM	heart:	n/a
25	chr12:66528416-66528466	Caco-2	colon:	n/a
26	chr12:66528416-66528466	HRPEpiC	eye:	n/a
27	chr12:66528416-66528466	SK-N-SH_RA	brain:	n/a
28	chr12:66528416-66528466	ProgFib	skin:	n/a
29	chr12:66528416-66528466	SKMC	muscle:	n/a
30	chr12:66528416-66528466	HMEC	breast:	n/a
31	chr12:66528416-66528466	SAEC	small airway:	n/a
32	chr12:66528416-66528466	IMR90	lung:	fetal
33	chr12:66528416-66528466	HAEpiC	amniotic membrane:	n/a
34	chr12:66528416-66528466	HNPCEpiC	eye:	n/a
35	chr12:66528416-66528466	AG04450	lung:	fetal
36	chr12:66528416-66528466	AG09319	gingival:	n/a
37	chr12:66528416-66528466	SK-N-SH	brain:	n/a
38	chr12:66528416-66528466	NHDF-neo	bronchial:	n/a
39	chr12:66528416-66528466	U87	brain:	n/a
40	chr12:66528416-66528466	AoSMC	blood vessel:	n/a
41	chr12:66528416-66528466	MCF10A-Er-Src	breast:	n/a
42	chr12:66528416-66528466	ECC-1	luminal epithelium:	n/a
43	chr12:66528416-66528466	Hela-S3	cervix:	n/a
44	chr12:66528416-66528466	PrEC	prostate:	n/a
45	chr12:66528416-66528466	GM19239	blood:	n/a
46	chr12:66528416-66528466	PANC-1	pancreas:	n/a
47	chr12:66528416-66528466	HL-60	blood:	n/a
48	chr12:66528416-66528466	HEK293	kidney:	embryo
49	chr12:66528416-66528466	H1-hESC	embryonic stem cell:	embryo
50	chr12:66528416-66528466	NH-A	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:66523792..66527078-chr12:66561013..66565049,6	MCF-7	breast:
2	chr12:66523095..66527368-chr12:66532414..66535159,4	MCF-7	breast:
3	chr12:66529650..66532056-chr12:66539532..66541211,2	MCF-7	breast:
4	chr12:66523605..66525489-chr12:66527409..66530193,2	MCF-7	breast:
5	chr12:66526136..66528056-chr12:66612533..66614066,2	K562	blood:
6	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:
7	chr12:66524156..66526085-chr12:66529096..66530644,2	K562	blood:
8	chr12:66512970..66515802-chr12:66525883..66527400,2	MCF-7	breast:
9	chr12:66526618..66528298-chr12:66533657..66535201,2	MCF-7	breast:
10	chr12:66521057..66526734-chr12:66560807..66565257,7	K562	blood:
11	chr12:66524217..66527472-chr12:66531631..66536698,7	K562	blood:
12	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:
13	chr12:66504685..66506522-chr12:66524649..66526191,2	K562	blood:
14	chr12:66523081..66526604-chr12:66560988..66564576,8	MCF-7	breast:

No data

Variant related genes	Relation type
LLPH	TF binding region
LLPH	CpG island
ENSG00000239335	chromatin interactions
ENSG00000155957	chromatin interactions
ENSG00000139233	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 80 )

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	rs532715334	chr12:66526061-66526062	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529381108	chr12:66526085-66526086	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192263297	chr12:66526114-66526115	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74097896	chr12:66526130-66526131	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569299058	chr12:66526137-66526138	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538238262	chr12:66526233-66526234	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552529245	chr12:66526386-66526387	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139621181	chr12:66526420-66526421	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184281270	chr12:66526429-66526430	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533748908	chr12:66526530-66526531	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142893573	chr12:66526537-66526538	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538971323	chr12:66526594-66526595	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151020488	chr12:66526597-66526598	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573669099	chr12:66526601-66526602	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566290989	chr12:66526627-66526628	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542348810	chr12:66526654-66526655	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535091192	chr12:66526684-66526685	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187110617	chr12:66526756-66526757	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575681091	chr12:66526760-66526761	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144212867	chr12:66526841-66526842	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs5798808	chr12:66526858-66526859	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs397850558	chr12:66526869-66526870	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74741705	chr12:66526870-66526871	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548705851	chr12:66526874-66526875	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140938544	chr12:66526875-66526876	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564635765	chr12:66526876-66526877	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150264167	chr12:66526888-66526889	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558895811	chr12:66526896-66526897	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147961423	chr12:66526995-66526996	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560704468	chr12:66526999-66527000	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529485110	chr12:66527000-66527001	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141895501	chr12:66527008-66527009	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537855783	chr12:66527011-66527012	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147082709	chr12:66527017-66527018	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531744212	chr12:66527025-66527026	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369025486	chr12:66527038-66527039	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554676355	chr12:66527039-66527040	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374168474	chr12:66527049-66527050	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12823732	chr12:66527050-66527051	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556423136	chr12:66527060-66527061	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149481375	chr12:66527069-66527070	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143084032	chr12:66527102-66527103	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201675057	chr12:66527104-66527105	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77201256	chr12:66527130-66527131	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536036982	chr12:66527210-66527211	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369199366	chr12:66527255-66527256	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575693611	chr12:66527282-66527283	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs78460607	chr12:66527283-66527284	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538812457	chr12:66527334-66527335	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371235466	chr12:66527367-66527368	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66522600-66526000	Active TSS	GM12878-XiMat	blood
2	chr12:66523000-66526000	Active TSS	A549	lung
3	chr12:66523000-66526400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:66523800-66526000	Active TSS	K562	blood
5	chr12:66524000-66526200	Active TSS	Fetal Muscle Leg	muscle
6	chr12:66525000-66526000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:66525000-66526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:66525000-66526200	Flanking Active TSS	Dnd41	blood
9	chr12:66525000-66526600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:66525000-66526800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:66525000-66531200	Weak transcription	Lung	lung
12	chr12:66525000-66533200	Weak transcription	Gastric	stomach
13	chr12:66525200-66526000	Flanking Active TSS	HepG2	liver
14	chr12:66525200-66526200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:66525200-66526200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
17	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
18	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
19	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
20	chr12:66525400-66526000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:66525400-66526000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:66525400-66526000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:66525400-66526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:66525400-66526200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:66525400-66526200	Enhancers	Primary B cells from cord blood	blood
26	chr12:66525400-66526200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:66525400-66526200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:66525400-66526200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:66525400-66526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:66525400-66526200	Weak transcription	Fetal Stomach	stomach
31	chr12:66525400-66526200	Weak transcription	Left Ventricle	heart
32	chr12:66525400-66526200	Weak transcription	Psoas Muscle	Psoas
33	chr12:66525400-66526200	Weak transcription	HSMMtube	muscle
34	chr12:66525400-66526400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:66525400-66526400	Enhancers	Fetal Lung	lung
36	chr12:66525400-66526600	Weak transcription	Right Atrium	heart
37	chr12:66525400-66526800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:66525400-66526800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:66525400-66526800	Enhancers	HSMM	muscle
40	chr12:66525400-66526800	Enhancers	Osteobl	bone
41	chr12:66525400-66527000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:66525400-66527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
48	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
49	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:66525400-66530200	Weak transcription	Ovary	ovary

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