Variant report

Variant	esv1838493
Chromosome Location	chr16:30381050-30382642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:725)
CpG islands
(count:428)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30381840-30382586	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:30381841-30382730	K562	blood:	n/a	n/a
3	ATF1	chr16:30381831-30382639	K562	blood:	n/a	n/a
4	ATF2	chr16:30381832-30382716	GM12878	blood:	n/a	n/a
5	BACH1	chr16:30382461-30382468	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr16:30381694-30381935	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr16:30382349-30382624	K562	blood:	n/a	n/a
8	BHLHE40	chr16:30381719-30382156	HepG2	liver:	n/a	n/a
9	BRCA1	chr16:30381780-30382566	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr16:30381901-30382711	K562	blood:	n/a	n/a
11	CCNT2	chr16:30382322-30382618	K562	blood:	n/a	chr16:30382564-30382573
12	CCNT2	chr16:30381549-30381951	K562	blood:	n/a	n/a
13	CEBPB	chr16:30382167-30382189	A549	lung:	n/a	n/a
14	CEBPD	chr16:30381271-30381897	HepG2	liver:	n/a	n/a
15	CEBPD	chr16:30381558-30381826	HepG2	liver:	n/a	n/a
16	CEBPZ	chr16:30381766-30382611	HepG2	liver:	n/a	n/a
17	CHD2	chr16:30381649-30382654	Hela-S3	cervix:	n/a	chr16:30381753-30381763
18	CHD2	chr16:30381713-30382691	GM12878	blood:	n/a	chr16:30381753-30381763
19	CHD2	chr16:30381686-30382634	H1-hESC	embryonic stem cell:	n/a	chr16:30381753-30381763
20	CHD2	chr16:30381693-30382498	HepG2	liver:	n/a	chr16:30381753-30381763
21	CHD2	chr16:30381761-30382633	K562	blood:	n/a	n/a
22	CREB1	chr16:30381780-30382672	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr16:30381479-30382694	A549	lung:	n/a	n/a
24	CREB1	chr16:30381152-30382878	HepG2	liver:	n/a	n/a
25	CREB1	chr16:30381562-30382977	GM12878	blood:	n/a	n/a
26	CREB1	chr16:30381650-30382752	K562	blood:	n/a	n/a
27	CREB1	chr16:30381792-30382679	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr16:30381319-30382840	HepG2	liver:	n/a	n/a
29	CREB1	chr16:30381657-30382628	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr16:30381691-30382668	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr16:30381728-30382582	A549	lung:	n/a	n/a
32	CREB1	chr16:30381548-30382813	GM12878	blood:	n/a	n/a
33	CTBP2	chr16:30382374-30382713	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr16:30382640-30382790	GM12872	blood:	n/a	n/a
35	CTCF	chr16:30382322-30382709	Spleen_OC	spleen:	n/a	chr16:30382478-30382491 chr16:30382475-30382493 chr16:30382341-30382354
36	CTCF	chr16:30382380-30382530	AG10803	skin:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
37	CTCF	chr16:30381400-30381550	HAc	cerebellar:	n/a	n/a
38	CTCF	chr16:30382420-30382570	AG10803	skin:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
39	CTCF	chr16:30382400-30382550	AG09309	skin:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
40	CTCF	chr16:30382387-30382569	MCF-7	breast:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
41	CTCF	chr16:30382440-30382590	GM12875	blood:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
42	CTCF	chr16:30382440-30382590	SK-N-SH_RA	brain:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
43	CTCF	chr16:30382391-30382550	Pancreas_OC	pancreas:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
44	CTCF	chr16:30382520-30382670	GM12872	blood:	n/a	n/a
45	CTCF	chr16:30382400-30382550	GM12864	blood:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
46	CTCF	chr16:30382560-30382710	HCM	heart:	n/a	n/a
47	CTCF	chr16:30381380-30381530	GM12871	blood:	n/a	n/a
48	CTCF	chr16:30381355-30381600	K562	blood:	n/a	n/a
49	CTCF	chr16:30382360-30382510	HA-sp	spinal cord:	n/a	chr16:30382478-30382491 chr16:30382475-30382493
50	CTCF	chr16:30382380-30382530	WI-38	lung:	n/a	chr16:30382478-30382491 chr16:30382475-30382493

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30381677-30381727	BJ	skin:	n/a
2	chr16:30381677-30381727	BJ	skin:	n/a
3	chr16:30381109-30381159	HIPEpiC	eye:	n/a
4	chr16:30381303-30381353	GM06990	blood:	n/a
5	chr16:30381109-30381159	ovcar-3	ovarian:	n/a
6	chr16:30381303-30381353	GM12892	blood:	n/a
7	chr16:30381109-30381159	ECC-1	luminal epithelium:	n/a
8	chr16:30381887-30381937	HAEpiC	amniotic membrane:	n/a
9	chr16:30381887-30381937	NB4	blood:	n/a
10	chr16:30382517-30382567	HUVEC	blood vessel:	n/a
11	chr16:30381677-30381727	Hela-S3	cervix:	n/a
12	chr16:30381109-30381159	NH-A	brain:	n/a
13	chr16:30382066-30382116	Hepatocyte	liver:	n/a
14	chr16:30382517-30382567	HPAEpiC	pulmonary alveolar:	n/a
15	chr16:30382569-30382619	MCF10A-Er-Src	breast:	n/a
16	chr16:30382569-30382619	HRE	kidney:	n/a
17	chr16:30381887-30381937	HCM	heart:	n/a
18	chr16:30382517-30382567	NHDF-neo	bronchial:	n/a
19	chr16:30381303-30381353	BJ	skin:	n/a
20	chr16:30381303-30381353	IMR90	lung:	fetal
21	chr16:30381887-30381937	HEEpiC	esophagus:	n/a
22	chr16:30381677-30381727	HCPEpiC	choroid plexus:	n/a
23	chr16:30382066-30382116	Caco-2	colon:	n/a
24	chr16:30381887-30381937	MCF-7	breast:	n/a
25	chr16:30381109-30381159	HCF	heart:	n/a
26	chr16:30381887-30381937	GM06990	blood:	n/a
27	chr16:30381677-30381727	NHDF-neo	bronchial:	n/a
28	chr16:30381303-30381353	HCF	heart:	n/a
29	chr16:30382569-30382619	AG04450	lung:	fetal
30	chr16:30382066-30382116	H1-hESC	embryonic stem cell:	embryo
31	chr16:30381887-30381937	SK-N-SH_RA	brain:	n/a
32	chr16:30381887-30381937	Jurkat	blood:	n/a
33	chr16:30381109-30381159	U87	brain:	n/a
34	chr16:30381677-30381727	NHBE	bronchial:	n/a
35	chr16:30381677-30381727	T-47D	breast:	n/a
36	chr16:30381109-30381159	SK-N-SH_RA	brain:	n/a
37	chr16:30381887-30381937	T-47D	breast:	n/a
38	chr16:30381887-30381937	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:30381677-30381727	SK-N-SH_RA	brain:	n/a
40	chr16:30381303-30381353	T-47D	breast:	n/a
41	chr16:30381109-30381159	HCT-116	colon:	n/a
42	chr16:30381677-30381727	GM12878	blood:	n/a
43	chr16:30381109-30381159	K562	blood:	n/a
44	chr16:30381677-30381727	HUVEC	blood vessel:	n/a
45	chr16:30382517-30382567	HL-60	blood:	n/a
46	chr16:30382569-30382619	NB4	blood:	n/a
47	chr16:30381677-30381727	HAEpiC	amniotic membrane:	n/a
48	chr16:30381677-30381727	HepG2	liver:	n/a
49	chr16:30381303-30381353	Hepatocyte	liver:	n/a
50	chr16:30382517-30382567	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:30101858..30103931-chr16:30381450..30384176,2	K562	blood:
2	chr16:30381703..30382505-chr16:30456763..30457379,2	K562	blood:
3	chr16:30381749..30384813-chr16:30709284..30711839,3	MCF-7	breast:
4	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
5	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
6	chr16:30381262..30384231-chr16:30661276..30663868,2	MCF-7	breast:
7	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
8	chr1:27718866..27719686-chr16:30381542..30382345,2	Hela-S3	cervix:
9	chr16:30381512..30383944-chr16:30455828..30458052,2	K562	blood:
10	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:
11	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
12	chr16:30381426..30383001-chr16:30455584..30457801,2	MCF-7	breast:
13	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
14	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:
15	chr16:30381350..30382003-chr17:56708904..56709454,2	Hela-S3	cervix:
16	chr16:30381117..30384208-chr16:30417593..30420362,3	MCF-7	breast:
17	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
18	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:

No data

Variant related genes	Relation type
MYLPF	TF binding region
TBC1D10B	TF binding region
MYLPF	CpG island
TBC1D10B	CpG island
ENSG00000102879	chromatin interactions
ENSG00000179965	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000149922	chromatin interactions
ENSG00000180096	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000181773	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	rs577486158	chr16:30381746-30381747	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs544929024	chr16:30381757-30381758	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs565396603	chr16:30381789-30381790	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs577468425	chr16:30381794-30381795	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs559703737	chr16:30381799-30381800	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs55884744	chr16:30381869-30381870	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs527324421	chr16:30381911-30381912	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs544451442	chr16:30381912-30381913	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs112662574	chr16:30381946-30381947	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs563110184	chr16:30381957-30381958	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs143639646	chr16:30381967-30381968	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs146780624	chr16:30381976-30381977	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs548695671	chr16:30382028-30382029	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs78089727	chr16:30382062-30382063	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs181798305	chr16:30382074-30382075	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
33	rs528040055	chr16:30382116-30382117	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
34	rs140737586	chr16:30382129-30382130	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs571425740	chr16:30382170-30382171	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs538942500	chr16:30382181-30382182	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs35180637	chr16:30382218-30382219	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs542355776	chr16:30382222-30382223	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs567906410	chr16:30382236-30382237	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs550486144	chr16:30382243-30382244	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs569062350	chr16:30382259-30382260	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs73532587	chr16:30382291-30382292	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150487811	chr16:30382313-30382314	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs573382896	chr16:30382333-30382334	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs534135331	chr16:30382381-30382382	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 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:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30378600-30381200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr16:30378600-30381200	Active TSS	Fetal Kidney	kidney
3	chr16:30378600-30381200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr16:30378600-30381400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:30378800-30381200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr16:30378800-30381200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr16:30378800-30381200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr16:30378800-30381200	Flanking Active TSS	Liver	Liver
9	chr16:30378800-30382800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:30379000-30381200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr16:30379000-30381200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr16:30379000-30381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:30379000-30381200	Flanking Active TSS	Fetal Thymus	thymus
14	chr16:30379000-30383000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:30379200-30381200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr16:30379200-30381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr16:30379200-30381200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:30379200-30381200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:30379200-30381400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr16:30379200-30381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:30379400-30382800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:30379400-30382800	Active TSS	Ovary	ovary
23	chr16:30379600-30381200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr16:30379600-30381200	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr16:30379600-30381200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:30379600-30381200	Active TSS	Stomach Mucosa	stomach
27	chr16:30379600-30381800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr16:30379600-30382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr16:30379600-30382400	Active TSS	HMEC	breast
30	chr16:30379600-30382400	Active TSS	HSMM	muscle
31	chr16:30379600-30382600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr16:30379600-30382600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:30379600-30382600	Active TSS	HSMMtube	muscle
34	chr16:30379600-30382800	Active TSS	Psoas Muscle	Psoas
35	chr16:30379600-30382800	Active TSS	NHLF	lung
36	chr16:30379800-30381200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:30379800-30381200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr16:30379800-30381200	Active TSS	NHDF-Ad	bronchial
39	chr16:30379800-30381400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr16:30379800-30381400	Active TSS	Fetal Intestine Large	intestine
41	chr16:30379800-30381400	Active TSS	Fetal Intestine Small	intestine
42	chr16:30379800-30381600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:30379800-30382600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:30379800-30382600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:30379800-30383200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr16:30380000-30381200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:30380000-30381200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:30380000-30381800	Active TSS	Small Intestine	intestine
49	chr16:30380000-30382400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:30380200-30381200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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