Variant report

Variant	nsv8917
Chromosome Location	chr12:11168232-11293747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:510)
CpG islands
(count:1038)
Chromatin interactive
region (count:10)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:11224069-11224255	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:11168444-11168649	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:11176072-11176303	HepG2	liver:	n/a	n/a
4	ATF2	chr12:11237956-11238445	GM12878	blood:	n/a	n/a
5	ATF2	chr12:11238009-11238486	GM12878	blood:	n/a	n/a
6	BATF	chr12:11238084-11238352	GM12878	blood:	n/a	n/a
7	BATF	chr12:11263857-11264113	GM12878	blood:	n/a	n/a
8	BATF	chr12:11186566-11186883	GM12878	blood:	n/a	n/a
9	BATF	chr12:11216721-11217010	GM12878	blood:	n/a	n/a
10	BATF	chr12:11186631-11186911	GM12878	blood:	n/a	n/a
11	BATF	chr12:11238012-11238373	GM12878	blood:	n/a	n/a
12	BATF	chr12:11263799-11264109	GM12878	blood:	n/a	n/a
13	BATF	chr12:11247482-11247799	GM12878	blood:	n/a	n/a
14	BATF	chr12:11228218-11228560	GM12878	blood:	n/a	n/a
15	BATF	chr12:11225254-11225547	GM12878	blood:	n/a	n/a
16	BATF	chr12:11288756-11288960	GM12878	blood:	n/a	n/a
17	BATF	chr12:11247547-11247827	GM12878	blood:	n/a	n/a
18	BATF	chr12:11288732-11288969	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:11238061-11238356	GM12878	blood:	n/a	chr12:11238263-11238272
20	BCL11A	chr12:11263900-11264159	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:11228248-11228517	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:11288728-11288993	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:11186584-11186913	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:11247500-11247829	GM12878	blood:	n/a	n/a
25	BHLHE40	chr12:11228293-11228667	GM12878	blood:	n/a	n/a
26	BHLHE40	chr12:11168360-11168714	HepG2	liver:	n/a	n/a
27	BRCA1	chr12:11168480-11168660	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:11226186-11226481	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:11260954-11260970	HepG2	liver:	n/a	n/a
30	CEBPB	chr12:11222658-11222813	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:11223987-11224332	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:11170024-11170162	HepG2	liver:	n/a	chr12:11170139-11170150
33	CHD2	chr12:11238132-11238304	GM12878	blood:	n/a	n/a
34	CTCF	chr12:11209740-11209890	HepG2	liver:	n/a	n/a
35	CTCF	chr12:11178780-11178930	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr12:11178820-11178970	AG09309	skin:	n/a	n/a
37	CTCF	chr12:11178880-11179030	GM12873	blood:	n/a	n/a
38	CTCF	chr12:11176080-11176230	HepG2	liver:	n/a	n/a
39	CTCF	chr12:11178840-11178990	AG09319	gingival:	n/a	n/a
40	CTCF	chr12:11178720-11178870	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr12:11178860-11179010	GM12872	blood:	n/a	n/a
42	CTCF	chr12:11178880-11179030	A549	lung:	n/a	n/a
43	CTCF	chr12:11178820-11178970	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr12:11178785-11179055	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:11178840-11178990	GM12872	blood:	n/a	n/a
46	CTCF	chr12:11248748-11248798	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr12:11178840-11178990	GM12873	blood:	n/a	n/a
48	CTCF	chr12:11178860-11179010	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr12:11178820-11178970	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:11169160-11169310	HepG2	liver:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11184149-11184199	AG09309	skin:	n/a
2	chr12:11184149-11184199	AG09309	skin:	n/a
3	chr12:11184149-11184199	H1-hESC	embryonic stem cell:	embryo
4	chr12:11184415-11184465	CMK	blood:	n/a
5	chr12:11184415-11184465	NB4	blood:	n/a
6	chr12:11215083-11215133	NH-A	brain:	n/a
7	chr12:11176574-11176624	CMK	blood:	n/a
8	chr12:11184005-11184055	HRE	kidney:	n/a
9	chr12:11287344-11287394	HepG2	liver:	n/a
10	chr12:11184347-11184397	HIPEpiC	eye:	n/a
11	chr12:11184347-11184397	AG09309	skin:	n/a
12	chr12:11184415-11184465	LNCaP	prostate:	n/a
13	chr12:11174898-11174948	Jurkat	blood:	n/a
14	chr12:11185058-11185108	Caco-2	colon:	n/a
15	chr12:11216351-11216401	A549	lung:	n/a
16	chr12:11244899-11244949	HMEC	breast:	n/a
17	chr12:11286360-11286410	Jurkat	blood:	n/a
18	chr12:11174898-11174948	AoSMC	blood vessel:	n/a
19	chr12:11286360-11286410	ECC-1	luminal epithelium:	n/a
20	chr12:11286360-11286410	AG10803	skin:	n/a
21	chr12:11287344-11287394	SKMC	muscle:	n/a
22	chr12:11244899-11244949	K562	blood:	n/a
23	chr12:11184005-11184055	SAEC	small airway:	n/a
24	chr12:11174898-11174948	AG09319	gingival:	n/a
25	chr12:11244899-11244949	PANC-1	pancreas:	n/a
26	chr12:11287271-11287321	SAEC	small airway:	n/a
27	chr12:11287815-11287865	NHBE	bronchial:	n/a
28	chr12:11174898-11174948	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:11174898-11174948	ovcar-3	ovarian:	n/a
30	chr12:11185058-11185108	MCF-7	breast:	n/a
31	chr12:11287271-11287321	HRCEpiC	kidney:	n/a
32	chr12:11287344-11287394	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:11287815-11287865	AoSMC	blood vessel:	n/a
34	chr12:11216351-11216401	RPTEC	kidney:	n/a
35	chr12:11244899-11244949	HUVEC	blood vessel:	n/a
36	chr12:11176386-11176436	Hepatocyte	liver:	n/a
37	chr12:11287271-11287321	HAEpiC	amniotic membrane:	n/a
38	chr12:11184037-11184087	NHDF-neo	bronchial:	n/a
39	chr12:11244939-11244989	BE2_C	brain:	n/a
40	chr12:11184005-11184055	GM12891	blood:	n/a
41	chr12:11215083-11215133	HCT-116	colon:	n/a
42	chr12:11174898-11174948	AG10803	skin:	n/a
43	chr12:11184005-11184055	HRPEpiC	eye:	n/a
44	chr12:11176386-11176436	HMEC	breast:	n/a
45	chr12:11184149-11184199	HCT-116	colon:	n/a
46	chr12:11287271-11287321	HRPEpiC	eye:	n/a
47	chr12:11184005-11184055	HCF	heart:	n/a
48	chr12:11184347-11184397	BJ	skin:	n/a
49	chr12:11184149-11184199	SK-N-SH_RA	brain:	n/a
50	chr12:11176574-11176624	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:
2	chr12:11271454..11274346-chr12:11279643..11282306,2	MCF-7	breast:
3	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:
4	chr12:11009323..11011109-chr12:11168207..11170860,2	K562	blood:
5	chr12:11169301..11171201-chr12:11322573..11325255,2	MCF-7	breast:
6	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
7	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
8	chr12:11290678..11292304-chr12:11322742..11325522,2	MCF-7	breast:
9	chr12:11271454..11274346-chr12:11279643..11282306,2	MCF-7	breast:
10	chr12:11210669..11211248-chr5:109800405..109801099,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRH1-1	chr12:11199619-11199640	NONHSAT026908
2	lnc-PRH1-1	chr12:11199619-11199713	NONHSAT026914
3	lnc-PRH1-1	chr12:11187381-11187484	NR_037918
4	lnc-PRH1-1	chr12:11187381-11187484	NONHSAT026912
5	lnc-PRH1-1	chr12:11273609-11273779	NONHSAT026916
6	lnc-TAS2R43-1	chr12:11229915-11230841	NONHSAT140056
7	lnc-PRH1-1	chr12:11199619-11199787	NONHSAT026907
8	lnc-PRH1-1	chr12:11199619-11199736	NONHSAT026915
9	lnc-TAS2R43-1	chr12:11229368-11231770	NONHSAT026918
10	lnc-TAS2R46-1	chr12:11200931-11201855	NONHSAT026917
11	lnc-PRH1-1	chr12:11199612-11199787	NONHSAT026916
12	lnc-PRH1-1	chr12:11273435-11273779	NONHSAT026920
13	lnc-PRH1-1	chr12:11199619-11199787	NR_037918
14	lnc-PRH1-1	chr12:11199619-11199787	NONHSAT026912

No data

Variant related genes	Relation type
TAS2R46	TF binding region
TAS2R19	TF binding region
TAS2R30	TF binding region
TAS2R31	TF binding region
ENSG00000256400	TF binding region
ENSG00000268301	TF binding region
TAS2R43	TF binding region
TAS2R64P	TF binding region
PRR4	TF binding region
TAS2R63P	TF binding region
TAS2R46	CpG island
TAS2R19	CpG island
TAS2R30	CpG island
TAS2R31	CpG island
ENSG00000256400	CpG island
ENSG00000268301	CpG island
TAS2R43	CpG island
TAS2R64P	CpG island
PRR4	CpG island
TAS2R63P	CpG island
ENSG00000111215	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000256712	chromatin interactions
ENSG00000212127	chromatin interactions

Extended variants
information (count: 6902 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:6902 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571713844	chr12:11168238-11168239	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540661730	chr12:11168261-11168262	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193233489	chr12:11168262-11168263	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533979942	chr12:11168319-11168320	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200535634	chr12:11168357-11168358	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145888183	chr12:11168372-11168373	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573882451	chr12:11168379-11168380	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536515347	chr12:11168455-11168456	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556401689	chr12:11168456-11168457	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576257778	chr12:11168458-11168459	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112397044	chr12:11168505-11168506	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200068285	chr12:11168527-11168528	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564869367	chr12:11168549-11168550	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563817367	chr12:11168555-11168556	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370969083	chr12:11168566-11168567	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532909216	chr12:11168573-11168574	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73254827	chr12:11168578-11168579	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574582040	chr12:11168653-11168654	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540695946	chr12:11168663-11168664	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560908454	chr12:11168742-11168743	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529560987	chr12:11168745-11168746	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542874601	chr12:11168749-11168750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185452753	chr12:11168765-11168766	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367871725	chr12:11168843-11168844	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543603691	chr12:11168852-11168853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112996296	chr12:11168892-11168893	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112628123	chr12:11168896-11168897	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531834546	chr12:11168897-11168898	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147684021	chr12:11168902-11168903	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113277001	chr12:11168905-11168906	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571684629	chr12:11168978-11168979	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527765286	chr12:11168982-11168983	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547496681	chr12:11168999-11169000	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563867608	chr12:11169001-11169002	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375601255	chr12:11169003-11169004	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190310787	chr12:11169054-11169055	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73047117	chr12:11169067-11169068	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536551652	chr12:11169101-11169102	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566257138	chr12:11169107-11169108	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537341132	chr12:11169115-11169116	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142454314	chr12:11169157-11169158	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143524431	chr12:11169159-11169160	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200070838	chr12:11169160-11169161	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs1868763	chr12:11169184-11169185	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181511236	chr12:11169192-11169193	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572066844	chr12:11169197-11169198	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs541084569	chr12:11169207-11169208	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554279648	chr12:11169214-11169215	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74690948	chr12:11169215-11169216	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371069158	chr12:11169239-11169240	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1645 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
7	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:11147000-11168400	Weak transcription	Liver	Liver
10	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
11	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:11147200-11168600	Weak transcription	Spleen	Spleen
13	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
16	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
17	chr12:11148400-11178200	Weak transcription	Dnd41	blood
18	chr12:11149000-11168600	Weak transcription	Left Ventricle	heart
19	chr12:11154000-11169000	Weak transcription	Primary T cells from cord blood	blood
20	chr12:11154200-11174200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:11154200-11178200	Weak transcription	A549	lung
23	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:11159400-11168600	Weak transcription	Gastric	stomach
25	chr12:11159400-11182000	Weak transcription	NHEK	skin
26	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
29	chr12:11162400-11172800	Weak transcription	Fetal Brain Female	brain
30	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
32	chr12:11163600-11178800	Weak transcription	Ovary	ovary
33	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
35	chr12:11164800-11171800	Weak transcription	Lung	lung
36	chr12:11165000-11170000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:11165000-11180800	Weak transcription	HSMM	muscle
38	chr12:11165200-11170800	Enhancers	Brain Substantia Nigra	brain
39	chr12:11165400-11180200	Weak transcription	Esophagus	oesophagus
40	chr12:11165600-11174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:11166400-11168600	Enhancers	HepG2	liver
44	chr12:11166400-11170600	Enhancers	Brain Hippocampus Middle	brain
45	chr12:11166400-11170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:11166600-11168800	Weak transcription	Right Ventricle	heart
47	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:11167000-11169000	Weak transcription	Brain Anterior Caudate	brain
49	chr12:11167000-11178200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:11167200-11169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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