Variant report

Variant	nsv523853
Chromosome Location	chr12:58350631-58386722
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	chr12:58359607-58359950	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:58359236-58359277	HepG2	liver:	n/a	n/a
3	BATF	chr12:58359495-58359798	GM12878	blood:	n/a	chr12:58359599-58359610
4	BATF	chr12:58359492-58359759	GM12878	blood:	n/a	chr12:58359599-58359610
5	BCL11A	chr12:58359495-58359743	GM12878	blood:	n/a	chr12:58359602-58359611 chr12:58359583-58359592
6	BCL11A	chr12:58359487-58359709	GM12878	blood:	n/a	chr12:58359602-58359611 chr12:58359583-58359592
7	CBX3	chr12:58360182-58360531	K562	blood:	n/a	n/a
8	CEBPB	chr12:58379748-58379838	A549	lung:	n/a	n/a
9	CEBPB	chr12:58379642-58379828	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:58375105-58375300	K562	blood:	n/a	chr12:58375180-58375193 chr12:58375182-58375193 chr12:58375135-58375147 chr12:58375182-58375191 chr12:58375180-58375191
11	CEBPB	chr12:58375121-58375318	H1-hESC	embryonic stem cell:	n/a	chr12:58375180-58375193 chr12:58375182-58375193 chr12:58375135-58375147 chr12:58375182-58375191 chr12:58375180-58375191
12	CEBPB	chr12:58376813-58377020	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:58375054-58375254	A549	lung:	n/a	chr12:58375180-58375193 chr12:58375182-58375193 chr12:58375135-58375147 chr12:58375182-58375191 chr12:58375180-58375191
14	CEBPB	chr12:58375012-58375314	HepG2	liver:	n/a	chr12:58375180-58375193 chr12:58375182-58375193 chr12:58375135-58375147 chr12:58375182-58375191 chr12:58375180-58375191
15	CTCF	chr12:58377000-58377150	GM12865	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
16	CTCF	chr12:58386680-58386830	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr12:58377000-58377150	K562	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
18	CTCF	chr12:58377000-58377150	HMEC	breast:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
19	CTCF	chr12:58377040-58377190	NB4	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
20	CTCF	chr12:58377002-58377191	GM13977	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
21	CTCF	chr12:58376980-58377130	BJ	skin:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
22	CTCF	chr12:58376922-58377289	A549	lung:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
23	CTCF	chr12:58386680-58386830	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr12:58377040-58377190	HRPEpiC	eye:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
25	CTCF	chr12:58376980-58377130	GM12878	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
26	CTCF	chr12:58377000-58377150	GM12868	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
27	CTCF	chr12:58370440-58370590	SAEC	small airway:	n/a	n/a
28	CTCF	chr12:58377020-58377170	Hela-S3	cervix:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
29	CTCF	chr12:58370420-58370570	HMF	breast:	n/a	n/a
30	CTCF	chr12:58377077-58377117	MCF-7	breast:	n/a	chr12:58377095-58377113 chr12:58377098-58377111
31	CTCF	chr12:58376985-58377209	LNCaP	prostate:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
32	CTCF	chr12:58376969-58377243	Medullo	brain:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
33	CTCF	chr12:58377020-58377170	GM12872	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
34	CTCF	chr12:58377020-58377170	BJ	skin:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
35	CTCF	chr12:58376988-58377214	HepG2	liver:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
36	CTCF	chr12:58377011-58377169	GM20000	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
37	CTCF	chr12:58377260-58377410	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr12:58377020-58377170	GM12864	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
39	CTCF	chr12:58352663-58352727	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr12:58377020-58377170	HA-sp	spinal cord:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
41	CTCF	chr12:58377360-58377510	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr12:58377020-58377170	HEEpiC	esophagus:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
43	CTCF	chr12:58377000-58377150	HBMEC	blood vessel:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
44	CTCF	chr12:58376960-58377110	GM12864	blood:	n/a	n/a
45	CTCF	chr12:58376995-58377235	Pancreas_OC	pancreas:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
46	CTCF	chr12:58377040-58377190	GM12871	blood:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
47	CTCF	chr12:58376980-58377229	MCF-7	breast:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
48	CTCF	chr12:58376960-58377110	HEK293	kidney:	n/a	n/a
49	CTCF	chr12:58377020-58377170	AoAF	blood vessel:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111
50	CTCF	chr12:58377040-58377190	BE2_C	brain:	n/a	chr12:58377095-58377113 chr12:58377097-58377118 chr12:58377098-58377111

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58378763-58378813	NH-A	brain:	n/a
2	chr12:58378763-58378813	HRCEpiC	kidney:	n/a
3	chr12:58378763-58378813	HAEpiC	amniotic membrane:	n/a
4	chr12:58378763-58378813	ProgFib	skin:	n/a
5	chr12:58378763-58378813	GM19239	blood:	n/a
6	chr12:58378763-58378813	ECC-1	luminal epithelium:	n/a
7	chr12:58378763-58378813	AG04449	skin:	fetal
8	chr12:58378763-58378813	HIPEpiC	eye:	n/a
9	chr12:58378763-58378813	PrEC	prostate:	n/a
10	chr12:58378763-58378813	AG10803	skin:	n/a
11	chr12:58378763-58378813	HEK293	kidney:	embryo
12	chr12:58378763-58378813	GM06990	blood:	n/a
13	chr12:58378763-58378813	GM12878	blood:	n/a
14	chr12:58378763-58378813	HCPEpiC	choroid plexus:	n/a
15	chr12:58378763-58378813	BE2_C	brain:	n/a
16	chr12:58378763-58378813	NT2-D1	testis:	n/a
17	chr12:58378763-58378813	SK-N-SH_RA	brain:	n/a
18	chr12:58378763-58378813	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:58378763-58378813	H1-hESC	embryonic stem cell:	embryo
20	chr12:58378763-58378813	HRPEpiC	eye:	n/a
21	chr12:58378763-58378813	BJ	skin:	n/a
22	chr12:58378763-58378813	SK-N-SH	brain:	n/a
23	chr12:58378763-58378813	A549	lung:	n/a
24	chr12:58378763-58378813	Hepatocyte	liver:	n/a
25	chr12:58378763-58378813	HRE	kidney:	n/a
26	chr12:58378763-58378813	NHDF-neo	bronchial:	n/a
27	chr12:58378763-58378813	HepG2	liver:	n/a
28	chr12:58378763-58378813	NB4	blood:	n/a
29	chr12:58378763-58378813	SKMC	muscle:	n/a
30	chr12:58378763-58378813	SAEC	small airway:	n/a
31	chr12:58378763-58378813	SK-N-MC	brain:	n/a
32	chr12:58378763-58378813	HUVEC	blood vessel:	n/a
33	chr12:58378763-58378813	Jurkat	blood:	n/a
34	chr12:58378763-58378813	U87	brain:	n/a
35	chr12:58378763-58378813	HNPCEpiC	eye:	n/a
36	chr12:58378763-58378813	GM12891	blood:	n/a
37	chr12:58378763-58378813	HCF	heart:	n/a
38	chr12:58378763-58378813	MCF-7	breast:	n/a
39	chr12:58378763-58378813	HEEpiC	esophagus:	n/a
40	chr12:58378763-58378813	Caco-2	colon:	n/a
41	chr12:58378763-58378813	NHBE	bronchial:	n/a
42	chr12:58378763-58378813	AG09319	gingival:	n/a
43	chr12:58378763-58378813	ovcar-3	ovarian:	n/a
44	chr12:58378763-58378813	AG09309	skin:	n/a
45	chr12:58378763-58378813	Hela-S3	cervix:	n/a
46	chr12:58378763-58378813	K562	blood:	n/a
47	chr12:58378763-58378813	MCF10A-Er-Src	breast:	n/a
48	chr12:58378763-58378813	GM12892	blood:	n/a
49	chr12:58378763-58378813	HCM	heart:	n/a
50	chr12:58378763-58378813	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:58339593..58341366-chr12:58350590..58353556,2	K562	blood:
2	chr12:58376623..58377498-chr12:58837088..58837648,3	MCF-7	breast:
3	chr12:58386589..58387476-chr12:58837133..58838015,2	MCF-7	breast:
4	chr12:58376655..58377420-chr12:58696096..58696772,2	MCF-7	breast:
5	chr12:58386454..58387165-chr12:58695920..58696809,3	MCF-7	breast:
6	chr12:58334482..58336747-chr12:58350130..58351915,2	MCF-7	breast:
7	chr12:58357813..58359948-chr12:58368022..58370038,2	K562	blood:
8	chr12:58357813..58359948-chr12:58368022..58370038,2	K562	blood:
9	chr12:58370028..58371998-chr12:58927298..58929393,2	MCF-7	breast:
10	chr12:58376739..58377510-chr12:58695892..58696435,2	MCF-7	breast:
11	chr12:58347570..58349774-chr12:58354574..58356685,2	MCF-7	breast:
12	chr12:58331126..58336809-chr12:58347198..58351955,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTDSP2-6	chr12:58371748-58372060	NONHSAT029014

Variant related genes	Relation type
ENSG00000257159	TF binding region
ENSG00000257668	TF binding region
RN7SKP65	TF binding region
ENSG00000257159	CpG island
ENSG00000257668	CpG island
RN7SKP65	CpG island
ENSG00000166896	chromatin interactions

Extended variants
information (count: 769 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10122	chr12:58350631-58350632	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368876623	chr12:58350637-58350638	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200432568	chr12:58350647-58350648	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200808591	chr12:58350648-58350649	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199938592	chr12:58350653-58350654	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375771337	chr12:58350654-58350655	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370130714	chr12:58350657-58350658	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377625667	chr12:58350664-58350665	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543882861	chr12:58350695-58350696	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs55838524	chr12:58350726-58350727	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562217355	chr12:58350727-58350728	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550714124	chr12:58350761-58350762	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190127397	chr12:58350847-58350848	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564329868	chr12:58350912-58350913	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79542209	chr12:58351003-58351004	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181624887	chr12:58351012-58351013	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138389611	chr12:58351015-58351016	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73335533	chr12:58351027-58351028	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550717889	chr12:58351071-58351072	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373138734	chr12:58351085-58351086	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187098810	chr12:58351132-58351133	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539947030	chr12:58351167-58351168	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567352338	chr12:58351218-58351219	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147240801	chr12:58351246-58351247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573053979	chr12:58351247-58351248	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117946687	chr12:58351393-58351394	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190847860	chr12:58351395-58351396	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111763507	chr12:58351396-58351397	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562154353	chr12:58351442-58351443	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138219318	chr12:58351473-58351474	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559330267	chr12:58351474-58351475	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115054389	chr12:58351475-58351476	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116696836	chr12:58351478-58351479	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117595745	chr12:58351479-58351480	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562200429	chr12:58351584-58351585	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79062325	chr12:58351590-58351591	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562375047	chr12:58351594-58351595	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183264270	chr12:58351668-58351669	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370848732	chr12:58351669-58351670	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141769981	chr12:58351678-58351679	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551172895	chr12:58351742-58351743	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375071478	chr12:58351782-58351783	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368668966	chr12:58351827-58351828	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571028545	chr12:58351891-58351892	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569264487	chr12:58352019-58352020	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540150614	chr12:58352058-58352059	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11172395	chr12:58352093-58352094	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372648221	chr12:58352124-58352125	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150565537	chr12:58352184-58352185	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12825843	chr12:58352220-58352221	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:88)

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
Thoracic aortic aneurysm	21092924	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336000-58351000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:58336000-58351000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:58336000-58351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:58336000-58351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:58336000-58351200	Weak transcription	Spleen	Spleen
6	chr12:58336000-58353000	Weak transcription	Small Intestine	intestine
7	chr12:58336200-58350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:58336200-58351000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:58336200-58351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:58336200-58351000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:58336200-58351200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:58336200-58351200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:58336200-58351200	Weak transcription	Placenta	Placenta
16	chr12:58336200-58351400	Weak transcription	Brain Anterior Caudate	brain
17	chr12:58336200-58351400	Weak transcription	Fetal Lung	lung
18	chr12:58336200-58351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:58336200-58351600	Weak transcription	HUVEC	blood vessel
20	chr12:58336200-58353000	Weak transcription	Stomach Mucosa	stomach
21	chr12:58336200-58353400	Weak transcription	Fetal Kidney	kidney
22	chr12:58336200-58353600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:58336200-58353600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:58336200-58353800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:58336200-58353800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:58336200-58354000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:58336200-58354000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:58336200-58354000	Weak transcription	Psoas Muscle	Psoas
29	chr12:58336200-58356200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:58336200-58359600	Weak transcription	A549	lung
31	chr12:58336400-58351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:58336400-58351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:58336400-58351200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:58336400-58359600	Weak transcription	HMEC	breast
35	chr12:58336800-58351200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:58336800-58353000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:58337200-58351000	Weak transcription	Colonic Mucosa	Colon
38	chr12:58337200-58358400	Weak transcription	HepG2	liver
39	chr12:58339600-58352200	Strong transcription	Primary T cells from cord blood	blood
40	chr12:58340000-58351600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:58340200-58351400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:58340600-58351200	Strong transcription	K562	blood
43	chr12:58340600-58351800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:58340600-58352200	Strong transcription	Fetal Thymus	thymus
45	chr12:58340800-58351200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:58341000-58352200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:58342800-58352400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:58343200-58352600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:58343600-58351800	Weak transcription	NHEK	skin
50	chr12:58344600-58352000	Strong transcription	Liver	Liver

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