Variant report

Variant	nsv1012050
Chromosome Location	chr1:223824652-223843610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:214)
CpG islands
(count:183)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:223834947-223834971	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr1:223842759-223843334	A549	lung:	n/a	n/a
3	CEBPB	chr1:223825571-223825761	IMR90	lung:	n/a	n/a
4	CEBPB	chr1:223842598-223843268	MCF-7	breast:	n/a	n/a
5	CEBPB	chr1:223826952-223827252	K562	blood:	n/a	chr1:223827097-223827108
6	CEBPB	chr1:223826848-223827494	MCF-7	breast:	n/a	chr1:223827097-223827108
7	CEBPB	chr1:223826873-223827448	MCF-7	breast:	n/a	chr1:223827097-223827108
8	CEBPB	chr1:223840146-223840530	MCF-7	breast:	n/a	n/a
9	CEBPB	chr1:223826960-223827254	A549	lung:	n/a	chr1:223827097-223827108
10	CEBPB	chr1:223826932-223827280	Hela-S3	cervix:	n/a	chr1:223827097-223827108
11	CEBPB	chr1:223835053-223835253	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr1:223826966-223827207	HepG2	liver:	n/a	chr1:223827097-223827108
13	CEBPB	chr1:223826953-223827268	K562	blood:	n/a	chr1:223827097-223827108
14	CREB1	chr1:223841773-223842325	A549	lung:	n/a	n/a
15	CTCF	chr1:223837020-223837170	GM12866	blood:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
16	CTCF	chr1:223837080-223837230	GM12873	blood:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
17	CTCF	chr1:223837123-223837132	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:223841880-223842030	HepG2	liver:	n/a	n/a
19	CTCF	chr1:223837098-223837194	H1-hESC	embryonic stem cell:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
20	CTCF	chr1:223841840-223841990	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:223841860-223842010	HAc	cerebellar:	n/a	n/a
22	CTCF	chr1:223841680-223841830	Caco-2	colon:	n/a	n/a
23	CTCF	chr1:223837040-223837190	K562	blood:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
24	CTCF	chr1:223837000-223837150	HEK293	kidney:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
25	CTCF	chr1:223837117-223837122	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:223841743-223841855	K562	blood:	n/a	n/a
27	CTCF	chr1:223837040-223837190	HEK293	kidney:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
28	CTCF	chr1:223841740-223841890	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:223841778-223841861	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:223841700-223841850	HEK293	kidney:	n/a	n/a
31	CTCF	chr1:223837160-223837310	GM12870	blood:	n/a	n/a
32	CTCF	chr1:223837040-223837190	HepG2	liver:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
33	CTCF	chr1:223837080-223837230	GM12871	blood:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
34	CTCF	chr1:223836860-223837010	A549	lung:	n/a	n/a
35	CTCF	chr1:223837140-223837290	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr1:223837020-223837170	GM12872	blood:	n/a	chr1:223837130-223837143 chr1:223837127-223837140 chr1:223837133-223837142
37	E2F4	chr1:223827013-223827123	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr1:223828830-223828937	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr1:223843176-223843376	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr1:223840577-223841215	H1-hESC	embryonic stem cell:	n/a	n/a
41	EGR1	chr1:223842584-223842979	MCF-7	breast:	n/a	n/a
42	EGR1	chr1:223842645-223842843	K562	blood:	n/a	n/a
43	EGR1	chr1:223842587-223843019	MCF-7	breast:	n/a	n/a
44	EP300	chr1:223842683-223843350	MCF-7	breast:	n/a	chr1:223843092-223843099 chr1:223843214-223843228
45	EP300	chr1:223841831-223842131	HepG2	liver:	n/a	chr1:223841974-223841981 chr1:223841965-223841975
46	EP300	chr1:223841644-223842268	A549	lung:	n/a	chr1:223841974-223841981 chr1:223841965-223841975
47	EP300	chr1:223841609-223842351	A549	lung:	n/a	chr1:223841974-223841981 chr1:223841965-223841975
48	EP300	chr1:223842656-223843416	MCF-7	breast:	n/a	chr1:223843092-223843099 chr1:223843214-223843228
49	EP300	chr1:223842726-223843423	A549	lung:	n/a	chr1:223843092-223843099 chr1:223843214-223843228
50	EP300	chr1:223842561-223843471	A549	lung:	n/a	chr1:223843092-223843099 chr1:223843214-223843228

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223835369-223835419	BJ	skin:	n/a
2	chr1:223840974-223841024	MCF10A-Er-Src	breast:	n/a
3	chr1:223835369-223835419	H1-hESC	embryonic stem cell:	embryo
4	chr1:223840974-223841024	LNCaP	prostate:	n/a
5	chr1:223835369-223835419	BE2_C	brain:	n/a
6	chr1:223840925-223840975	NH-A	brain:	n/a
7	chr1:223840974-223841024	CMK	blood:	n/a
8	chr1:223835369-223835419	HIPEpiC	eye:	n/a
9	chr1:223840925-223840975	U87	brain:	n/a
10	chr1:223835369-223835419	A549	lung:	n/a
11	chr1:223840974-223841024	AoSMC	blood vessel:	n/a
12	chr1:223840925-223840975	NT2-D1	testis:	n/a
13	chr1:223840974-223841024	GM06990	blood:	n/a
14	chr1:223835369-223835419	NHBE	bronchial:	n/a
15	chr1:223840925-223840975	HAEpiC	amniotic membrane:	n/a
16	chr1:223835369-223835419	HAEpiC	amniotic membrane:	n/a
17	chr1:223840925-223840975	H1-hESC	embryonic stem cell:	embryo
18	chr1:223840974-223841024	BJ	skin:	n/a
19	chr1:223840925-223840975	AoSMC	blood vessel:	n/a
20	chr1:223840925-223840975	IMR90	lung:	fetal
21	chr1:223840974-223841024	SK-N-SH	brain:	n/a
22	chr1:223835369-223835419	Caco-2	colon:	n/a
23	chr1:223835369-223835419	SAEC	small airway:	n/a
24	chr1:223840974-223841024	GM12891	blood:	n/a
25	chr1:223835369-223835419	HCM	heart:	n/a
26	chr1:223840925-223840975	AG09319	gingival:	n/a
27	chr1:223840974-223841024	Hepatocyte	liver:	n/a
28	chr1:223840925-223840975	MCF-7	breast:	n/a
29	chr1:223835369-223835419	MCF-7	breast:	n/a
30	chr1:223840925-223840975	Jurkat	blood:	n/a
31	chr1:223840925-223840975	GM12891	blood:	n/a
32	chr1:223840925-223840975	HRCEpiC	kidney:	n/a
33	chr1:223840925-223840975	AG04449	skin:	fetal
34	chr1:223835369-223835419	Jurkat	blood:	n/a
35	chr1:223840974-223841024	SK-N-SH_RA	brain:	n/a
36	chr1:223840974-223841024	MCF-7	breast:	n/a
37	chr1:223840974-223841024	HNPCEpiC	eye:	n/a
38	chr1:223840925-223840975	RPTEC	kidney:	n/a
39	chr1:223835369-223835419	SK-N-MC	brain:	n/a
40	chr1:223840974-223841024	BE2_C	brain:	n/a
41	chr1:223835369-223835419	GM19239	blood:	n/a
42	chr1:223840974-223841024	AG10803	skin:	n/a
43	chr1:223840974-223841024	U87	brain:	n/a
44	chr1:223840925-223840975	HIPEpiC	eye:	n/a
45	chr1:223840925-223840975	AG10803	skin:	n/a
46	chr1:223840974-223841024	ECC-1	luminal epithelium:	n/a
47	chr1:223840925-223840975	ProgFib	skin:	n/a
48	chr1:223835369-223835419	NB4	blood:	n/a
49	chr1:223835369-223835419	IMR90	lung:	fetal
50	chr1:223840925-223840975	NB4	blood:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223827148..223829506-chr1:223840054..223841666,2	MCF-7	breast:
2	chr1:223840282..223843675-chr1:223851675..223856291,7	MCF-7	breast:
3	chr1:223840874..223841758-chr8:63546888..63547676,2	MCF-7	breast:
4	chr1:223827325..223830055-chr1:223836590..223838294,2	MCF-7	breast:
5	chr1:223535228..223537703-chr1:223832802..223834743,2	MCF-7	breast:
6	chr1:223829687..223833751-chr1:223837016..223839699,4	MCF-7	breast:
7	chr1:223827325..223830055-chr1:223836590..223838294,2	MCF-7	breast:
8	chr1:223831956..223833970-chr1:223853050..223855835,2	MCF-7	breast:
9	chr1:223826154..223828830-chr1:223841356..223843010,2	MCF-7	breast:
10	chr1:223823766..223826400-chr1:223828935..223830773,2	K562	blood:
11	chr1:223833118..223836523-chr1:223838327..223841763,4	MCF-7	breast:
12	chr1:223843142..223845522-chr1:223848017..223849601,2	K562	blood:
13	chr1:223834427..223836360-chr1:223837595..223841642,3	MCF-7	breast:
14	chr1:223825136..223827090-chr1:223853987..223856973,2	MCF-7	breast:
15	chr1:223834427..223836360-chr1:223837595..223841642,3	MCF-7	breast:
16	chr1:223322225..223323066-chr1:223842691..223843630,2	MCF-7	breast:
17	chr1:223836208..223847031-chr1:223849408..223858826,22	MCF-7	breast:
18	chr1:223823766..223826400-chr1:223828935..223830773,2	K562	blood:
19	chr1:223838928..223839586-chr1:223857876..223858715,2	MCF-7	breast:
20	chr1:223803243..223805245-chr1:223838331..223840277,2	MCF-7	breast:
21	chr1:223837812..223840547-chr1:223845364..223849589,4	K562	blood:
22	chr1:223815744..223818238-chr1:223828274..223830462,2	K562	blood:
23	chr1:223832588..223834103-chr1:223850844..223852665,2	MCF-7	breast:
24	chr1:223827148..223829506-chr1:223840054..223841666,2	MCF-7	breast:
25	chr1:223827183..223829380-chr1:223830891..223832610,2	MCF-7	breast:
26	chr1:223833055..223835891-chr1:223854048..223855966,2	K562	blood:
27	chr1:223842591..223843487-chr1:223870928..223871712,2	MCF-7	breast:
28	chr1:223833118..223836523-chr1:223838327..223841763,4	MCF-7	breast:
29	chr1:223815744..223816492-chr1:223826635..223827327,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53BP2-5	chr1:223831812-223832085	NONHSAT009740

No data

Variant related genes	Relation type
SNRPEP10	TF binding region
CAPN8	TF binding region
SNRPEP10	CpG island
CAPN8	CpG island
ENSG00000143502	chromatin interactions
ENSG00000227002	chromatin interactions
ENSG00000203697	chromatin interactions

Extended variants
information (count: 804 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78211665	chr1:223824658-223824659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577598920	chr1:223824691-223824692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189031508	chr1:223824700-223824701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77551044	chr1:223824743-223824744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11584292	chr1:223824752-223824753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540178365	chr1:223824783-223824784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575799631	chr1:223824784-223824785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546198180	chr1:223824786-223824787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564286121	chr1:223824792-223824793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373035510	chr1:223824883-223824884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72747944	chr1:223824886-223824887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377619166	chr1:223824940-223824941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61825220	chr1:223824946-223824947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547936545	chr1:223824953-223824954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562227077	chr1:223825050-223825051	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569956982	chr1:223825058-223825059	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530683049	chr1:223825061-223825062	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373861521	chr1:223825068-223825069	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192424128	chr1:223825082-223825083	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117077989	chr1:223825125-223825126	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36072692	chr1:223825142-223825143	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11580006	chr1:223825168-223825169	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72747945	chr1:223825268-223825269	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116298853	chr1:223825280-223825281	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144533349	chr1:223825288-223825289	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148035114	chr1:223825299-223825300	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141871373	chr1:223825334-223825335	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546160969	chr1:223825345-223825346	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73125619	chr1:223825352-223825353	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115339746	chr1:223825357-223825358	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540367948	chr1:223825388-223825389	Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561854715	chr1:223825523-223825524	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529321654	chr1:223825542-223825543	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78342630	chr1:223825549-223825550	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563322506	chr1:223825559-223825560	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530864789	chr1:223825589-223825590	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183575569	chr1:223825606-223825607	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188015242	chr1:223825659-223825660	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528103834	chr1:223825679-223825680	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12071525	chr1:223825688-223825689	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181263541	chr1:223825693-223825694	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535505697	chr1:223825767-223825768	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78841899	chr1:223825772-223825773	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111900348	chr1:223825811-223825812	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540172802	chr1:223825815-223825816	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183808528	chr1:223825841-223825842	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559844633	chr1:223825861-223825862	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111737235	chr1:223825974-223825975	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533955421	chr1:223825989-223825990	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2404353	chr1:223826005-223826006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	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
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223808600-223825000	Weak transcription	Gastric	stomach
2	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
3	chr1:223822200-223833400	Weak transcription	Pancreas	Pancrea
4	chr1:223823200-223824800	Weak transcription	Stomach Mucosa	stomach
5	chr1:223823200-223825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:223823200-223826400	Weak transcription	Liver	Liver
7	chr1:223823400-223826400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:223824800-223825000	Enhancers	Stomach Mucosa	stomach
9	chr1:223825000-223825200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:223825000-223825200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr1:223825000-223825200	ZNF genes & repeats	Gastric	stomach
12	chr1:223825000-223825200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:223825000-223825400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:223825000-223826000	Genic enhancers	Stomach Mucosa	stomach
15	chr1:223825200-223826400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:223825200-223827400	Weak transcription	Gastric	stomach
17	chr1:223826000-223826400	Enhancers	Stomach Mucosa	stomach
18	chr1:223826400-223827200	Weak transcription	Stomach Mucosa	stomach
19	chr1:223826400-223830400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:223826400-223831000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:223826400-223831200	Enhancers	Liver	Liver
22	chr1:223827200-223831000	Enhancers	Stomach Mucosa	stomach
23	chr1:223827400-223827600	Enhancers	Gastric	stomach
24	chr1:223827400-223827800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr1:223827600-223828200	Enhancers	Colonic Mucosa	Colon
26	chr1:223827600-223828200	Weak transcription	Gastric	stomach
27	chr1:223827800-223828400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:223828000-223828200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:223828000-223830400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:223828200-223829200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:223828200-223829400	Enhancers	Gastric	stomach
32	chr1:223828200-223833400	Weak transcription	Colonic Mucosa	Colon
33	chr1:223828400-223830400	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:223828600-223829200	Enhancers	Fetal Intestine Large	intestine
35	chr1:223828600-223829600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:223828600-223829600	Enhancers	Psoas Muscle	Psoas
37	chr1:223828800-223834000	Weak transcription	Fetal Stomach	stomach
38	chr1:223829200-223829400	Enhancers	Lung	lung
39	chr1:223829200-223829400	Bivalent Enhancer	HUVEC	blood vessel
40	chr1:223829200-223829600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:223829200-223829600	Weak transcription	Fetal Intestine Large	intestine
42	chr1:223829200-223829800	Enhancers	NHEK	skin
43	chr1:223829200-223830000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:223829200-223830200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:223829200-223830800	Enhancers	Fetal Intestine Small	intestine
46	chr1:223829400-223829800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:223829400-223830800	Weak transcription	Gastric	stomach
48	chr1:223829400-223834000	Weak transcription	Lung	lung
49	chr1:223829600-223830200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:223829600-223831000	Enhancers	Fetal Intestine Large	intestine

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