Variant report

Variant	esv1815600
Chromosome Location	chr16:30380486-30381735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:354)
CpG islands
(count:305)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:30381694-30381935	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr16:30381719-30382156	HepG2	liver:	n/a	n/a
3	CCNT2	chr16:30381549-30381951	K562	blood:	n/a	n/a
4	CEBPB	chr16:30381031-30381038	HepG2	liver:	n/a	n/a
5	CEBPD	chr16:30381271-30381897	HepG2	liver:	n/a	n/a
6	CEBPD	chr16:30381558-30381826	HepG2	liver:	n/a	n/a
7	CHD2	chr16:30381649-30382654	Hela-S3	cervix:	n/a	chr16:30381753-30381763
8	CHD2	chr16:30381686-30382634	H1-hESC	embryonic stem cell:	n/a	chr16:30381753-30381763
9	CHD2	chr16:30381713-30382691	GM12878	blood:	n/a	chr16:30381753-30381763
10	CHD2	chr16:30381693-30382498	HepG2	liver:	n/a	chr16:30381753-30381763
11	CREB1	chr16:30381691-30382668	ECC-1	luminal epithelium:	n/a	n/a
12	CREB1	chr16:30381152-30382878	HepG2	liver:	n/a	n/a
13	CREB1	chr16:30381562-30382977	GM12878	blood:	n/a	n/a
14	CREB1	chr16:30381319-30382840	HepG2	liver:	n/a	n/a
15	CREB1	chr16:30381657-30382628	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr16:30381479-30382694	A549	lung:	n/a	n/a
17	CREB1	chr16:30381728-30382582	A549	lung:	n/a	n/a
18	CREB1	chr16:30381548-30382813	GM12878	blood:	n/a	n/a
19	CREB1	chr16:30381650-30382752	K562	blood:	n/a	n/a
20	CTCF	chr16:30381400-30381550	HAc	cerebellar:	n/a	n/a
21	CTCF	chr16:30381450-30381501	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr16:30381444-30381531	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr16:30381380-30381530	HepG2	liver:	n/a	n/a
24	CTCF	chr16:30381440-30381590	SAEC	small airway:	n/a	n/a
25	CTCF	chr16:30381380-30381530	AG04449	skin:	n/a	n/a
26	CTCF	chr16:30381200-30381350	GM12866	blood:	n/a	n/a
27	CTCF	chr16:30381454-30381559	GM12891	blood:	n/a	n/a
28	CTCF	chr16:30381301-30381641	K562	blood:	n/a	n/a
29	CTCF	chr16:30381419-30381557	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr16:30381394-30381554	GM19238	blood:	n/a	n/a
31	CTCF	chr16:30381355-30381600	K562	blood:	n/a	n/a
32	CTCF	chr16:30381440-30381590	GM12865	blood:	n/a	n/a
33	CTCF	chr16:30381423-30381559	MCF-7	breast:	n/a	n/a
34	CTCF	chr16:30381420-30381570	GM12866	blood:	n/a	n/a
35	CTCF	chr16:30381400-30381550	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr16:30381380-30381530	GM12872	blood:	n/a	n/a
37	CTCF	chr16:30381420-30381570	GM12867	blood:	n/a	n/a
38	CTCF	chr16:30381360-30381510	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr16:30381400-30381550	GM12864	blood:	n/a	n/a
40	CTCF	chr16:30381339-30381645	IMR90	lung:	n/a	n/a
41	CTCF	chr16:30381380-30381530	GM12871	blood:	n/a	n/a
42	CTCF	chr16:30381420-30381570	GM12874	blood:	n/a	n/a
43	CTCF	chr16:30381415-30381572	GM13977	blood:	n/a	n/a
44	CTCF	chr16:30381440-30381590	GM12870	blood:	n/a	n/a
45	CTCF	chr16:30381405-30381501	GM10266	blood:	n/a	n/a
46	CTCF	chr16:30381420-30381570	GM12869	blood:	n/a	n/a
47	CTCF	chr16:30381400-30381550	GM12871	blood:	n/a	n/a
48	CTCF	chr16:30381460-30381610	HEK293	kidney:	n/a	n/a
49	CTCF	chr16:30381461-30381564	HepG2	liver:	n/a	n/a
50	CTCF	chr16:30381360-30381510	GM12874	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	chr16:30380600-30380650	HUVEC	blood vessel:	n/a
2	chr16:30380794-30380844	HEEpiC	esophagus:	n/a
3	chr16:30380794-30380844	GM12878	blood:	n/a
4	chr16:30380600-30380650	HL-60	blood:	n/a
5	chr16:30380600-30380650	AG09319	gingival:	n/a
6	chr16:30381109-30381159	K562	blood:	n/a
7	chr16:30381303-30381353	AG09319	gingival:	n/a
8	chr16:30380600-30380650	HRE	kidney:	n/a
9	chr16:30380794-30380844	LNCaP	prostate:	n/a
10	chr16:30380600-30380650	AG10803	skin:	n/a
11	chr16:30380600-30380650	AG04450	lung:	fetal
12	chr16:30381677-30381727	ProgFib	skin:	n/a
13	chr16:30381109-30381159	ovcar-3	ovarian:	n/a
14	chr16:30380600-30380650	GM06990	blood:	n/a
15	chr16:30380794-30380844	NH-A	brain:	n/a
16	chr16:30380794-30380844	AG04450	lung:	fetal
17	chr16:30381109-30381159	NB4	blood:	n/a
18	chr16:30380600-30380650	T-47D	breast:	n/a
19	chr16:30380794-30380844	AG09319	gingival:	n/a
20	chr16:30381109-30381159	SK-N-SH	brain:	n/a
21	chr16:30381303-30381353	MCF10A-Er-Src	breast:	n/a
22	chr16:30380794-30380844	SK-N-MC	brain:	n/a
23	chr16:30380600-30380650	CMK	blood:	n/a
24	chr16:30381677-30381727	NHBE	bronchial:	n/a
25	chr16:30380600-30380650	NHBE	bronchial:	n/a
26	chr16:30380794-30380844	HRE	kidney:	n/a
27	chr16:30381303-30381353	GM12892	blood:	n/a
28	chr16:30380600-30380650	Jurkat	blood:	n/a
29	chr16:30380600-30380650	HCT-116	colon:	n/a
30	chr16:30380794-30380844	K562	blood:	n/a
31	chr16:30380794-30380844	HepG2	liver:	n/a
32	chr16:30381303-30381353	HCPEpiC	choroid plexus:	n/a
33	chr16:30381109-30381159	LNCaP	prostate:	n/a
34	chr16:30381303-30381353	BJ	skin:	n/a
35	chr16:30380794-30380844	PrEC	prostate:	n/a
36	chr16:30381109-30381159	Jurkat	blood:	n/a
37	chr16:30381303-30381353	H1-hESC	embryonic stem cell:	embryo
38	chr16:30381109-30381159	AG04450	lung:	fetal
39	chr16:30381303-30381353	NHDF-neo	bronchial:	n/a
40	chr16:30380600-30380650	HCF	heart:	n/a
41	chr16:30381109-30381159	GM12891	blood:	n/a
42	chr16:30381303-30381353	SAEC	small airway:	n/a
43	chr16:30380600-30380650	ovcar-3	ovarian:	n/a
44	chr16:30381109-30381159	AG09309	skin:	n/a
45	chr16:30381677-30381727	GM12878	blood:	n/a
46	chr16:30380600-30380650	SK-N-MC	brain:	n/a
47	chr16:30380600-30380650	ProgFib	skin:	n/a
48	chr16:30381109-30381159	CMK	blood:	n/a
49	chr16:30381303-30381353	Caco-2	colon:	n/a
50	chr16:30380600-30380650	HCPEpiC	choroid plexus:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30381262..30384231-chr16:30661276..30663868,2	MCF-7	breast:
2	chr16:30378764..30380971-chr16:30419142..30421108,2	K562	blood:
3	chr16:30381350..30382003-chr17:56708904..56709454,2	Hela-S3	cervix:
4	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
5	chr16:30381703..30382505-chr16:30456763..30457379,2	K562	blood:
6	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
7	chr16:30381512..30383944-chr16:30455828..30458052,2	K562	blood:
8	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
9	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
10	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
11	chr16:30381426..30383001-chr16:30455584..30457801,2	MCF-7	breast:
12	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
13	chr1:27718866..27719686-chr16:30381542..30382345,2	Hela-S3	cervix:
14	chr16:30381117..30384208-chr16:30417593..30420362,3	MCF-7	breast:
15	chr16:30101858..30103931-chr16:30381450..30384176,2	K562	blood:
16	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:
17	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
18	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:

No data

Variant related genes	Relation type
MYLPF	TF binding region
TBC1D10B	TF binding region
MYLPF	CpG island
TBC1D10B	CpG island
ENSG00000181773	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000149922	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000179965	chromatin interactions
ENSG00000102879	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000180096	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000169221	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4238961	chr16:30380486-30380487	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200549383	chr16:30380556-30380557	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs142381949	chr16:30380599-30380600	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs575699260	chr16:30380635-30380636	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs150905088	chr16:30380653-30380654	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs369386304	chr16:30380668-30380669	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs370266226	chr16:30380677-30380678	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs139742745	chr16:30380678-30380679	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs141294033	chr16:30380682-30380683	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs373512324	chr16:30380686-30380687	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs561283379	chr16:30380788-30380789	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs528779707	chr16:30380861-30380862	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs76903511	chr16:30380865-30380866	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs71389465	chr16:30380872-30380873	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112949123	chr16:30380879-30380880	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs532635335	chr16:30380891-30380892	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs201345648	chr16:30380895-30380896	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs551162879	chr16:30380931-30380932	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs569603479	chr16:30380999-30381000	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs530651104	chr16:30381011-30381012	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs548533806	chr16:30381013-30381014	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs567994614	chr16:30381047-30381048	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs566955736	chr16:30381054-30381055	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs534581560	chr16:30381058-30381059	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs552894253	chr16:30381060-30381061	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs201424259	chr16:30381131-30381132	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs571529515	chr16:30381181-30381182	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs12930654	chr16:30381220-30381221	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs538411293	chr16:30381241-30381242	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs570394259	chr16:30381257-30381258	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs376106282	chr16:30381298-30381299	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs12930787	chr16:30381303-30381304	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374390807	chr16:30381349-30381350	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs554981185	chr16:30381383-30381384	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs563976463	chr16:30381392-30381393	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs573322726	chr16:30381414-30381415	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs540920357	chr16:30381548-30381549	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs112957347	chr16:30381677-30381678	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs368287168	chr16:30381735-30381736	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30378200-30380600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:30378400-30380600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr16:30378600-30380600	Flanking Active TSS	Brain Substantia Nigra	brain
4	chr16:30378600-30380600	Flanking Active TSS	Fetal Brain Male	brain
5	chr16:30378600-30381000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:30378600-30381000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:30378600-30381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr16:30378600-30381000	Flanking Active TSS	Osteobl	bone
9	chr16:30378600-30381200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr16:30378600-30381200	Active TSS	Fetal Kidney	kidney
11	chr16:30378600-30381200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr16:30378600-30381400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:30378800-30380600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr16:30378800-30380600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:30378800-30380600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr16:30378800-30380600	Flanking Active TSS	Right Ventricle	heart
17	chr16:30378800-30380800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
18	chr16:30378800-30381000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr16:30378800-30381000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr16:30378800-30381000	Flanking Active TSS	Pancreas	Pancrea
21	chr16:30378800-30381000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr16:30378800-30381000	Flanking Active TSS	HUVEC	blood vessel
23	chr16:30378800-30381000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr16:30378800-30381200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr16:30378800-30381200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr16:30378800-30381200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr16:30378800-30381200	Flanking Active TSS	Liver	Liver
28	chr16:30378800-30382800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr16:30379000-30380600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:30379000-30380600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:30379000-30381000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr16:30379000-30381000	Flanking Active TSS	Placenta	Placenta
33	chr16:30379000-30381200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr16:30379000-30381200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr16:30379000-30381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:30379000-30381200	Flanking Active TSS	Fetal Thymus	thymus
37	chr16:30379000-30383000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr16:30379200-30380600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:30379200-30380800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr16:30379200-30381200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr16:30379200-30381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr16:30379200-30381200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:30379200-30381200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:30379200-30381400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr16:30379200-30381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:30379400-30380600	Flanking Active TSS	Esophagus	oesophagus
47	chr16:30379400-30380600	Active TSS	Right Atrium	heart
48	chr16:30379400-30380800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr16:30379400-30381000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:30379400-30381000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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