Variant report

Variant	esv14763
Chromosome Location	chr1:214778841-214782576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:612)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:214779219-214779286	LNCaP	prostate:	n/a	n/a
2	EBF1	chr1:214780097-214780333	GM12878	blood:	n/a	n/a
3	HEY1	chr1:214779710-214781017	K562	blood:	n/a	n/a
4	HEY1	chr1:214779036-214779633	K562	blood:	n/a	n/a
5	HEY1	chr1:214781044-214781562	K562	blood:	n/a	n/a
6	HEY1	chr1:214778944-214781267	K562	blood:	n/a	n/a
7	POLR2A	chr1:214782270-214782501	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:214779790-214780852	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:214779122-214779411	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:214780707-214781206	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr1:214779764-214779902	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:214779130-214779226	ProgFib	skin:	n/a	n/a
13	POLR2A	chr1:214780075-214780670	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:214781086-214782058	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:214778968-214779663	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:214779708-214782066	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:214780900-214781017	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:214780975-214782007	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:214780538-214780617	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:214781525-214781879	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr1:214780697-214780727	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:214778892-214782541	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:214781214-214781523	K562	blood:	n/a	n/a
24	POLR2A	chr1:214780684-214781195	K562	blood:	n/a	n/a
25	POLR2A	chr1:214782228-214782454	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:214779022-214779588	GM12892	blood:	n/a	n/a
27	POLR2A	chr1:214782507-214782527	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:214780414-214780536	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:214779702-214780883	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:214781118-214781223	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:214779081-214782186	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:214781612-214782520	A549	lung:	n/a	n/a
33	POLR2A	chr1:214781712-214781956	K562	blood:	n/a	n/a
34	POLR2A	chr1:214780671-214782077	K562	blood:	n/a	n/a
35	POLR2A	chr1:214779788-214780953	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:214782266-214782475	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:214781118-214782038	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:214779772-214780037	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:214778834-214781903	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:214781622-214781786	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:214781717-214782039	K562	blood:	n/a	n/a
42	POLR2A	chr1:214782560-214783228	K562	blood:	n/a	n/a
43	POLR2A	chr1:214780363-214781117	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:214779830-214780816	GM12891	blood:	n/a	n/a
45	POLR2A	chr1:214779700-214782190	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:214779908-214780186	K562	blood:	n/a	n/a
47	POLR2A	chr1:214780855-214781187	A549	lung:	n/a	n/a
48	POLR2A	chr1:214780102-214780653	GM12892	blood:	n/a	n/a
49	POLR2A	chr1:214781028-214781036	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:214779019-214779289	Hela-S3	cervix:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214779430-214779480	U87	brain:	n/a
2	chr1:214782555-214782605	AG09309	skin:	n/a
3	chr1:214779430-214779480	U87	brain:	n/a
4	chr1:214782555-214782605	AG09309	skin:	n/a
5	chr1:214781663-214781713	IMR90	lung:	fetal
6	chr1:214781663-214781713	PANC-1	pancreas:	n/a
7	chr1:214779430-214779480	MCF-7	breast:	n/a
8	chr1:214781904-214781954	HEEpiC	esophagus:	n/a
9	chr1:214779657-214779707	GM12878	blood:	n/a
10	chr1:214779657-214779707	ovcar-3	ovarian:	n/a
11	chr1:214782434-214782484	SK-N-SH	brain:	n/a
12	chr1:214781904-214781954	SK-N-SH_RA	brain:	n/a
13	chr1:214782555-214782605	AG09319	gingival:	n/a
14	chr1:214781456-214781506	IMR90	lung:	fetal
15	chr1:214779657-214779707	AG10803	skin:	n/a
16	chr1:214782555-214782605	PANC-1	pancreas:	n/a
17	chr1:214779122-214779172	PANC-1	pancreas:	n/a
18	chr1:214782434-214782484	Hepatocyte	liver:	n/a
19	chr1:214781904-214781954	Hela-S3	cervix:	n/a
20	chr1:214779657-214779707	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:214782434-214782484	BJ	skin:	n/a
22	chr1:214781663-214781713	ECC-1	luminal epithelium:	n/a
23	chr1:214779122-214779172	AoSMC	blood vessel:	n/a
24	chr1:214779620-214779670	AG04449	skin:	fetal
25	chr1:214781904-214781954	HRPEpiC	eye:	n/a
26	chr1:214782434-214782484	PANC-1	pancreas:	n/a
27	chr1:214781456-214781506	AG09319	gingival:	n/a
28	chr1:214781904-214781954	MCF10A-Er-Src	breast:	n/a
29	chr1:214781663-214781713	HMEC	breast:	n/a
30	chr1:214780880-214780930	K562	blood:	n/a
31	chr1:214781663-214781713	NT2-D1	testis:	n/a
32	chr1:214781456-214781506	HRE	kidney:	n/a
33	chr1:214782434-214782484	PFSK-1	brain:	n/a
34	chr1:214780880-214780930	RPTEC	kidney:	n/a
35	chr1:214782434-214782484	K562	blood:	n/a
36	chr1:214781904-214781954	MCF-7	breast:	n/a
37	chr1:214779620-214779670	A549	lung:	n/a
38	chr1:214781904-214781954	U87	brain:	n/a
39	chr1:214779620-214779670	NT2-D1	testis:	n/a
40	chr1:214781456-214781506	AG10803	skin:	n/a
41	chr1:214779122-214779172	HEEpiC	esophagus:	n/a
42	chr1:214782555-214782605	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:214779657-214779707	BJ	skin:	n/a
44	chr1:214782434-214782484	Jurkat	blood:	n/a
45	chr1:214779620-214779670	HAEpiC	amniotic membrane:	n/a
46	chr1:214781904-214781954	ovcar-3	ovarian:	n/a
47	chr1:214782434-214782484	HAEpiC	amniotic membrane:	n/a
48	chr1:214779620-214779670	GM12892	blood:	n/a
49	chr1:214781663-214781713	ovcar-3	ovarian:	n/a
50	chr1:214782555-214782605	GM12878	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214777666..214779180-chr1:214780715..214782314,2	K562	blood:
2	chr1:214777011..214779791-chr1:214784551..214787409,3	K562	blood:
3	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:

No data

Variant related genes	Relation type
ABHD17AP3	TF binding region
ABHD17AP3	CpG island
ENSG00000224584	chromatin interactions
ENSG00000117724	chromatin interactions
ENSG00000250536	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28715929	chr1:214778899-214778900	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117198057	chr1:214778910-214778911	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569234144	chr1:214778915-214778916	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538241817	chr1:214778928-214778929	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535756392	chr1:214778929-214778930	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs547831083	chr1:214778946-214778947	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568072066	chr1:214778958-214778959	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533621203	chr1:214778960-214778961	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553806705	chr1:214778974-214778975	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377670454	chr1:214778975-214778976	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577056904	chr1:214778980-214778981	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539632176	chr1:214778984-214778985	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191490984	chr1:214779003-214779004	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576356808	chr1:214779013-214779014	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs76561183	chr1:214779031-214779032	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs55810324	chr1:214779062-214779063	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561898776	chr1:214779081-214779082	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572389748	chr1:214779099-214779100	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111648472	chr1:214779147-214779148	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2457960	chr1:214779152-214779153	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533292663	chr1:214779164-214779165	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183044974	chr1:214779167-214779168	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377515841	chr1:214779185-214779186	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563544266	chr1:214779189-214779190	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188430800	chr1:214779206-214779207	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549668974	chr1:214779208-214779209	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566281886	chr1:214779219-214779220	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533777603	chr1:214779234-214779235	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547115089	chr1:214779240-214779241	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570520086	chr1:214779315-214779316	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112373976	chr1:214779331-214779332	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556365364	chr1:214779345-214779346	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113296548	chr1:214779347-214779348	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199765011	chr1:214779354-214779355	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535324109	chr1:214779361-214779362	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555613884	chr1:214779376-214779377	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7366282	chr1:214779427-214779428	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144056113	chr1:214779440-214779441	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577669742	chr1:214779450-214779451	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543533785	chr1:214779476-214779477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376963750	chr1:214779495-214779496	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561003397	chr1:214779514-214779515	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529477214	chr1:214779616-214779617	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549355580	chr1:214779619-214779620	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192307016	chr1:214779626-214779627	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141241511	chr1:214779630-214779631	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373199545	chr1:214779643-214779644	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371173903	chr1:214779648-214779649	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528788475	chr1:214779705-214779706	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547320862	chr1:214779706-214779707	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Primary hepatocellular	22912832	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777200-214779200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:214777600-214779600	Weak transcription	Gastric	stomach
3	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
7	chr1:214777800-214779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:214777800-214780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214777800-214781000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:214778000-214779000	Enhancers	Fetal Stomach	stomach
12	chr1:214778000-214780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:214778200-214779200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:214778200-214780400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:214778200-214780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:214778200-214780800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:214778200-214781000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:214778200-214782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:214778200-214782600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:214778200-214782600	Weak transcription	Fetal Lung	lung
22	chr1:214778200-214783000	Weak transcription	Fetal Kidney	kidney
23	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:214778200-214793000	Weak transcription	HSMM	muscle
28	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:214778400-214779200	Enhancers	Fetal Heart	heart
32	chr1:214778400-214781800	Weak transcription	K562	blood
33	chr1:214778400-214786600	Weak transcription	Osteobl	bone
34	chr1:214778400-214786800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:214778400-214794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:214778600-214779000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:214778600-214780200	Weak transcription	A549	lung
38	chr1:214778600-214780400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:214778600-214780800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:214778600-214780800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:214778600-214780800	Weak transcription	Thymus	Thymus
42	chr1:214778600-214782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:214778600-214782600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:214778600-214782600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:214778600-214788000	Weak transcription	Hela-S3	cervix
46	chr1:214778600-214791200	Weak transcription	NHEK	skin
47	chr1:214778800-214779000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:214778800-214779000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:214778800-214779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:214778800-214779600	Weak transcription	Fetal Thymus	thymus

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