Variant report

Variant	esv3442193
Chromosome Location	chr16:30674901-30676849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr16:30675129-30675394	GM12878	blood:	n/a	chr16:30675265-30675276
2	BATF	chr16:30675119-30675309	GM12878	blood:	n/a	chr16:30675265-30675276
3	CTCF	chr16:30676703-30676719	K562	blood:	n/a	n/a
4	CTCF	chr16:30676600-30676750	HepG2	liver:	n/a	n/a
5	CTCF	chr16:30676660-30676810	K562	blood:	n/a	n/a
6	CTCF	chr16:30676689-30676723	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr16:30676600-30676750	HEK293	kidney:	n/a	n/a
8	CTCF	chr16:30676600-30676750	HCM	heart:	n/a	n/a
9	CTCF	chr16:30676695-30676699	HepG2	liver:	n/a	n/a
10	CTCF	chr16:30676460-30676610	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr16:30676680-30676830	HRE	kidney:	n/a	n/a
12	CTCF	chr16:30676580-30676850	A549	lung:	n/a	n/a
13	CTCF	chr16:30676640-30676790	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr16:30676580-30676730	BE2_C	brain:	n/a	n/a
15	CTCF	chr16:30676680-30676830	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr16:30676580-30676730	HepG2	liver:	n/a	n/a
17	CTCF	chr16:30676683-30676710	MCF-7	breast:	n/a	n/a
18	CTCF	chr16:30676595-30676802	HepG2	liver:	n/a	n/a
19	CTCF	chr16:30676658-30676718	K562	blood:	n/a	n/a
20	IRF4	chr16:30675066-30675388	GM12878	blood:	n/a	n/a
21	MYC	chr16:30676429-30676437	HUVEC	blood vessel:	n/a	n/a
22	PBX3	chr16:30675147-30675311	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:30676153-30676554	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:30676833-30676950	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:30676704-30677123	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:30675763-30676305	K562	blood:	n/a	n/a
27	POLR2A	chr16:30675961-30676697	K562	blood:	n/a	n/a
28	POLR2A	chr16:30676316-30676524	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:30675248-30676882	K562	blood:	n/a	n/a
30	POLR2A	chr16:30674958-30675277	K562	blood:	n/a	n/a
31	POLR2A	chr16:30673388-30675319	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:30675853-30676078	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:30675049-30675453	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:30674991-30675360	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:30674970-30675632	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:30675784-30680362	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:30676137-30676540	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:30675009-30675537	GM12892	blood:	n/a	n/a
39	POLR2A	chr16:30674682-30675038	K562	blood:	n/a	n/a
40	POLR2A	chr16:30675885-30676672	GM12892	blood:	n/a	n/a
41	RAD21	chr16:30676544-30676778	HepG2	liver:	n/a	n/a
42	RAD21	chr16:30676619-30676755	K562	blood:	n/a	n/a
43	STAT3	chr16:30675317-30675329	MCF10A-Er-Src	breast:	n/a	n/a
44	TCF12	chr16:30675112-30675422	GM12878	blood:	n/a	n/a
45	TCF12	chr16:30675129-30675367	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30675640-30675690	HCM	heart:	n/a
2	chr16:30675233-30675283	HCM	heart:	n/a
3	chr16:30675634-30675684	Jurkat	blood:	n/a
4	chr16:30675880-30675930	GM12891	blood:	n/a
5	chr16:30675233-30675283	PFSK-1	brain:	n/a
6	chr16:30676444-30676494	AG09319	gingival:	n/a
7	chr16:30675640-30675690	RPTEC	kidney:	n/a
8	chr16:30675640-30675690	ProgFib	skin:	n/a
9	chr16:30676444-30676494	ECC-1	luminal epithelium:	n/a
10	chr16:30675640-30675690	LNCaP	prostate:	n/a
11	chr16:30675880-30675930	AG04449	skin:	fetal
12	chr16:30675233-30675283	AG04449	skin:	fetal
13	chr16:30675233-30675283	A549	lung:	n/a
14	chr16:30675233-30675283	Caco-2	colon:	n/a
15	chr16:30675880-30675930	PANC-1	pancreas:	n/a
16	chr16:30676444-30676494	NB4	blood:	n/a
17	chr16:30676444-30676494	ProgFib	skin:	n/a
18	chr16:30675640-30675690	AG09319	gingival:	n/a
19	chr16:30676444-30676494	HCF	heart:	n/a
20	chr16:30675233-30675283	HIPEpiC	eye:	n/a
21	chr16:30675880-30675930	SAEC	small airway:	n/a
22	chr16:30675233-30675283	AG09319	gingival:	n/a
23	chr16:30675233-30675283	SK-N-SH_RA	brain:	n/a
24	chr16:30675640-30675690	HMEC	breast:	n/a
25	chr16:30676444-30676494	HCPEpiC	choroid plexus:	n/a
26	chr16:30675634-30675684	HRE	kidney:	n/a
27	chr16:30675634-30675684	AoSMC	blood vessel:	n/a
28	chr16:30675880-30675930	AG04450	lung:	fetal
29	chr16:30675640-30675690	AG10803	skin:	n/a
30	chr16:30676444-30676494	Caco-2	colon:	n/a
31	chr16:30675233-30675283	HCT-116	colon:	n/a
32	chr16:30675233-30675283	NHBE	bronchial:	n/a
33	chr16:30675880-30675930	MCF-7	breast:	n/a
34	chr16:30675880-30675930	HCT-116	colon:	n/a
35	chr16:30676444-30676494	MCF-7	breast:	n/a
36	chr16:30675634-30675684	GM12878	blood:	n/a
37	chr16:30675634-30675684	RPTEC	kidney:	n/a
38	chr16:30675634-30675684	GM06990	blood:	n/a
39	chr16:30675634-30675684	Hepatocyte	liver:	n/a
40	chr16:30675640-30675690	ovcar-3	ovarian:	n/a
41	chr16:30675634-30675684	HIPEpiC	eye:	n/a
42	chr16:30675640-30675690	HUVEC	blood vessel:	n/a
43	chr16:30676444-30676494	PANC-1	pancreas:	n/a
44	chr16:30675640-30675690	BJ	skin:	n/a
45	chr16:30675880-30675930	NHDF-neo	bronchial:	n/a
46	chr16:30675233-30675283	CMK	blood:	n/a
47	chr16:30675880-30675930	HRCEpiC	kidney:	n/a
48	chr16:30676444-30676494	AG04450	lung:	fetal
49	chr16:30675880-30675930	ECC-1	luminal epithelium:	n/a
50	chr16:30676444-30676494	GM12891	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30676794..30679147-chr16:30771507..30774609,3	MCF-7	breast:
2	chr16:30674544..30676988-chr16:30707710..30709714,2	K562	blood:
3	chr16:30673747..30676060-chr16:30719415..30722411,2	MCF-7	breast:
4	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
5	chr16:30674519..30676444-chr16:30709698..30711527,2	K562	blood:

No data

Variant related genes	Relation type
FBRS	TF binding region
FBRS	CpG island
ENSG00000222287	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000206755	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000261840	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190741852	chr16:30674927-30674928	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs531044502	chr16:30674928-30674929	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs79000570	chr16:30674931-30674932	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs35988719	chr16:30674957-30674958	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs142507437	chr16:30674961-30674962	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs528522561	chr16:30674965-30674966	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs893924	chr16:30675046-30675047	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs180702778	chr16:30675049-30675050	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs893925	chr16:30675154-30675155	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550769761	chr16:30675206-30675207	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs569073583	chr16:30675218-30675219	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs374848927	chr16:30675224-30675225	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs559319611	chr16:30675231-30675232	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs73536451	chr16:30675233-30675234	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs573636782	chr16:30675254-30675255	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs534651537	chr16:30675293-30675294	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs150921417	chr16:30675297-30675298	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs577881504	chr16:30675304-30675305	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs114876713	chr16:30675315-30675316	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs563497798	chr16:30675352-30675353	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs369821793	chr16:30675367-30675368	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs575538895	chr16:30675393-30675394	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs542829115	chr16:30675397-30675398	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs34946738	chr16:30675402-30675403	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115702235	chr16:30675403-30675404	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs528575103	chr16:30675416-30675417	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs546975595	chr16:30675433-30675434	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs565091966	chr16:30675438-30675439	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs532855353	chr16:30675454-30675455	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs185956084	chr16:30675474-30675475	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs541744898	chr16:30675500-30675501	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs530263027	chr16:30675544-30675545	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs548361821	chr16:30675553-30675554	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs369287343	chr16:30675608-30675609	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs563208826	chr16:30675629-30675630	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs534383311	chr16:30675639-30675640	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs552951154	chr16:30675641-30675642	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs571130394	chr16:30675721-30675722	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs538618502	chr16:30675722-30675723	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs557328726	chr16:30675795-30675796	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs575602146	chr16:30675851-30675852	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs542890584	chr16:30675867-30675868	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs554420858	chr16:30675880-30675881	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs143455806	chr16:30675887-30675888	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs377272272	chr16:30675956-30675957	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs540333339	chr16:30676013-30676014	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs565301466	chr16:30676037-30676038	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs530435967	chr16:30676049-30676050	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs551842879	chr16:30676118-30676119	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs532426858	chr16:30676142-30676143	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30672200-30675200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:30672200-30675400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:30672200-30677000	Genic enhancers	Spleen	Spleen
4	chr16:30672400-30675200	Genic enhancers	Gastric	stomach
5	chr16:30672400-30675400	Genic enhancers	Brain Hippocampus Middle	brain
6	chr16:30672400-30678000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:30672600-30675200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr16:30672600-30682000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:30672800-30675000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:30672800-30675200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:30672800-30675400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:30672800-30675400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:30672800-30675400	Genic enhancers	Pancreas	Pancrea
14	chr16:30672800-30675400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:30672800-30675400	Genic enhancers	Dnd41	blood
16	chr16:30672800-30675600	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr16:30672800-30676400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:30672800-30676400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:30672800-30676800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:30672800-30678800	Weak transcription	Stomach Mucosa	stomach
21	chr16:30672800-30679600	Strong transcription	HSMMtube	muscle
22	chr16:30672800-30682000	Strong transcription	Lung	lung
23	chr16:30672800-30682000	Strong transcription	A549	lung
24	chr16:30673000-30675200	Genic enhancers	Duodenum Mucosa	Duodenum
25	chr16:30673000-30675400	Genic enhancers	Colonic Mucosa	Colon
26	chr16:30673000-30675400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:30673000-30676200	Genic enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:30673000-30676600	Weak transcription	Psoas Muscle	Psoas
29	chr16:30673000-30677000	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr16:30673000-30679600	Strong transcription	NHEK	skin
31	chr16:30673000-30682000	Strong transcription	Aorta	Aorta
32	chr16:30673000-30682400	Genic enhancers	Placenta	Placenta
33	chr16:30673000-30682400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:30673200-30675000	Genic enhancers	Fetal Thymus	thymus
35	chr16:30673200-30675000	Strong transcription	Right Ventricle	heart
36	chr16:30673200-30675200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:30673200-30675200	Genic enhancers	Brain Anterior Caudate	brain
38	chr16:30673200-30675400	Genic enhancers	Primary T cells from cord blood	blood
39	chr16:30673200-30675400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:30673200-30675400	Genic enhancers	Colon Smooth Muscle	Colon
41	chr16:30673200-30675400	Strong transcription	Hela-S3	cervix
42	chr16:30673200-30675400	Strong transcription	K562	blood
43	chr16:30673200-30675600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr16:30673200-30676000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr16:30673200-30677600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr16:30673200-30677800	Strong transcription	Osteobl	bone
47	chr16:30673200-30678200	Weak transcription	Fetal Heart	heart
48	chr16:30673200-30682400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:30673200-30682600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:30673200-30682600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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