Variant report

Variant	esv3364056
Chromosome Location	chr16:30198951-30201949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 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	ATF2	chr16:30198083-30199160	GM12878	blood:	n/a	n/a
2	ATF2	chr16:30198423-30199069	GM12878	blood:	n/a	n/a
3	BCL3	chr16:30198207-30199080	A549	lung:	n/a	n/a
4	BCLAF1	chr16:30194548-30199158	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180 chr16:30194870-30194879 chr16:30194825-30194838
5	BCLAF1	chr16:30195097-30199113	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180
6	BHLHE40	chr16:30198454-30198956	K562	blood:	n/a	n/a
7	BHLHE40	chr16:30197995-30198979	GM12878	blood:	n/a	n/a
8	CBX3	chr16:30198527-30198990	K562	blood:	n/a	n/a
9	CHD1	chr16:30196398-30198955	GM12878	blood:	n/a	chr16:30196747-30196757
10	CHD2	chr16:30197999-30198957	GM12878	blood:	n/a	n/a
11	CREB1	chr16:30194564-30199103	GM12878	blood:	n/a	n/a
12	CTCF	chr16:30198252-30198957	GM12892	blood:	n/a	n/a
13	CTCF	chr16:30198980-30199130	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr16:30199500-30199650	K562	blood:	n/a	n/a
15	CTCF	chr16:30199240-30199390	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr16:30198424-30198960	GM19238	blood:	n/a	n/a
17	CTCF	chr16:30198531-30198999	K562	blood:	n/a	n/a
18	CTCF	chr16:30198561-30199024	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr16:30198510-30199017	GM12878	blood:	n/a	n/a
20	CTCF	chr16:30198549-30198957	K562	blood:	n/a	n/a
21	CTCF	chr16:30198584-30198986	HepG2	liver:	n/a	n/a
22	CTCF	chr16:30198575-30198988	MCF-7	breast:	n/a	n/a
23	CTCF	chr16:30198402-30199155	HCT-116	colon:	n/a	n/a
24	CTCF	chr16:30198483-30198992	K562	blood:	n/a	n/a
25	CTCF	chr16:30198450-30198954	GM12891	blood:	n/a	n/a
26	CTCF	chr16:30198624-30198955	IMR90	lung:	n/a	n/a
27	CTCF	chr16:30198391-30199154	A549	lung:	n/a	n/a
28	EBF1	chr16:30198630-30199046	GM12878	blood:	n/a	n/a
29	ELF1	chr16:30198599-30198987	K562	blood:	n/a	n/a
30	ELF1	chr16:30197868-30199130	GM12878	blood:	n/a	n/a
31	ELF1	chr16:30194536-30199157	GM12878	blood:	n/a	chr16:30197326-30197337 chr16:30194896-30194908 chr16:30194807-30194819 chr16:30197325-30197338 chr16:30196025-30196038 chr16:30194895-30194904
32	ELK1	chr16:30198761-30198961	K562	blood:	n/a	n/a
33	FOSL2	chr16:30200429-30200902	HepG2	liver:	n/a	n/a
34	FOXM1	chr16:30198377-30199055	GM12878	blood:	n/a	n/a
35	FOXM1	chr16:30200416-30200819	GM12878	blood:	n/a	n/a
36	FOXM1	chr16:30198459-30199031	GM12878	blood:	n/a	n/a
37	HDAC2	chr16:30198394-30198977	HepG2	liver:	n/a	n/a
38	HEY1	chr16:30200087-30200303	K562	blood:	n/a	n/a
39	HEY1	chr16:30200008-30200911	HepG2	liver:	n/a	n/a
40	HEY1	chr16:30200328-30200567	K562	blood:	n/a	n/a
41	HEY1	chr16:30200347-30200509	HepG2	liver:	n/a	n/a
42	HEY1	chr16:30201802-30202031	HepG2	liver:	n/a	n/a
43	IRF4	chr16:30198613-30198983	GM12878	blood:	n/a	n/a
44	JUND	chr16:30200030-30200439	A549	lung:	n/a	n/a
45	MAFK	chr16:30198628-30198965	K562	blood:	n/a	n/a
46	MAX	chr16:30198259-30198975	K562	blood:	n/a	n/a
47	MAX	chr16:30196402-30198966	GM12878	blood:	n/a	chr16:30197146-30197155 chr16:30197019-30197028
48	MAZ	chr16:30198599-30198979	K562	blood:	n/a	n/a
49	MAZ	chr16:30198622-30199007	GM12878	blood:	n/a	n/a
50	MBD4	chr16:30198421-30198975	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30124210..30124751-chr16:30198102..30199056,2	MCF-7	breast:
2	chr16:30197384..30200120-chr16:30417665..30420072,2	K562	blood:
3	chr16:30076811..30079031-chr16:30197360..30200413,3	K562	blood:
4	chr16:30075111..30080393-chr16:30194482..30199026,7	MCF-7	breast:
5	chr16:30075696..30078954-chr16:30197360..30200413,3	K562	blood:
6	chr16:30099194..30104975-chr16:30193189..30199409,9	MCF-7	breast:
7	chr16:30073832..30076686-chr16:30197424..30199809,3	MCF-7	breast:
8	chr16:30132759..30134974-chr16:30196981..30199413,2	MCF-7	breast:
9	chr16:30102992..30108322-chr16:30194679..30199860,7	K562	blood:
10	chr16:30077452..30079715-chr16:30197226..30200095,2	MCF-7	breast:
11	chr16:30197720..30200168-chr16:30772376..30774510,2	MCF-7	breast:
12	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
13	chr16:30102992..30106412-chr16:30196223..30199425,3	K562	blood:
14	chr16:30105196..30108316-chr16:30196676..30200078,3	MCF-7	breast:
15	chr16:30122556..30125865-chr16:30196040..30198997,3	K562	blood:
16	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLX1A-1	chr16:30200005-30200575	NONHSAT141716

No data

Variant related genes	Relation type
SULT1A3	TF binding region
ENSG00000261416	TF binding region
SLX1A	TF binding region
CORO1A	TF binding region
SLX1A-SULT1A3	TF binding region
ENSG00000102886	chromatin interactions
ENSG00000090238	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000250616	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000102882	chromatin interactions
ENSG00000149922	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000179965	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201442400	chr16:30199017-30199018	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs367708753	chr16:30199036-30199037	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs187747730	chr16:30199063-30199064	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs200963965	chr16:30199065-30199066	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs139024575	chr16:30199081-30199082	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs149867063	chr16:30199093-30199094	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs113875403	chr16:30199126-30199127	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs199650298	chr16:30199132-30199133	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs529237177	chr16:30199160-30199161	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs547256571	chr16:30199161-30199162	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs565893372	chr16:30199165-30199166	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs376463194	chr16:30199169-30199170	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs551863566	chr16:30199174-30199175	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs200153667	chr16:30199192-30199193	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs368258518	chr16:30199195-30199196	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs199744765	chr16:30199213-30199214	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs201641696	chr16:30199215-30199216	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs372809960	chr16:30199224-30199225	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs373553554	chr16:30199225-30199226	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs534787658	chr16:30199236-30199237	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs375783340	chr16:30199240-30199241	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs368862536	chr16:30199241-30199242	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs200859430	chr16:30199244-30199245	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs373178145	chr16:30199249-30199250	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs535362943	chr16:30199298-30199299	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs148629867	chr16:30199337-30199338	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs144860668	chr16:30199346-30199347	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs376912665	chr16:30199355-30199356	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs199960741	chr16:30199397-30199398	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs377351892	chr16:30199403-30199404	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs376748014	chr16:30199417-30199418	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs201613058	chr16:30199421-30199422	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs201199515	chr16:30199446-30199447	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs563800857	chr16:30199489-30199490	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs370658651	chr16:30199490-30199491	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs575738840	chr16:30199531-30199532	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs112289496	chr16:30199532-30199533	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs199896375	chr16:30199537-30199538	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs113382016	chr16:30199571-30199572	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs112728974	chr16:30199572-30199573	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs376878354	chr16:30199578-30199579	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs117288362	chr16:30199579-30199580	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs202094775	chr16:30199583-30199584	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs35900366	chr16:30199584-30199585	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368169424	chr16:30199599-30199600	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs370413012	chr16:30199605-30199606	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs542461381	chr16:30199620-30199621	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs373849698	chr16:30199621-30199622	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs368589751	chr16:30199632-30199633	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs75396666	chr16:30199634-30199635	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Congenital diaphragmatic hernia	21525063	CNVD
Epilepsy	20502679	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
autism	21731881	CNVD
Developmental delay	22909776	CNVD
speech impairment	22909776	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30195000-30205800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:30195200-30199400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr16:30195400-30199200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
4	chr16:30195600-30199200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:30195600-30199600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
6	chr16:30195800-30199000	Enhancers	K562	blood
7	chr16:30195800-30199800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:30196000-30199000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
9	chr16:30196000-30199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:30196000-30199000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
11	chr16:30196000-30199800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
12	chr16:30196000-30200600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:30196000-30205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:30196200-30199000	Enhancers	HepG2	liver
15	chr16:30196200-30199600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:30196200-30199600	Weak transcription	Fetal Lung	lung
17	chr16:30196200-30201000	Weak transcription	NHEK	skin
18	chr16:30196400-30205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:30196400-30205800	Weak transcription	Brain Substantia Nigra	brain
20	chr16:30196400-30205800	Weak transcription	Right Atrium	heart
21	chr16:30196600-30199000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:30197000-30199200	Enhancers	Placenta	Placenta
23	chr16:30197200-30199000	Enhancers	Fetal Muscle Trunk	muscle
24	chr16:30197200-30199200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
25	chr16:30197200-30205800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:30197200-30205800	Weak transcription	Brain Anterior Caudate	brain
27	chr16:30197400-30199000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:30197400-30199000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:30197400-30199800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
30	chr16:30197400-30201400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr16:30197600-30199000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr16:30197600-30199400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
33	chr16:30197600-30199600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
34	chr16:30197600-30199600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
35	chr16:30197600-30199800	Genic enhancers	Spleen	Spleen
36	chr16:30197800-30199000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:30197800-30199000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr16:30197800-30199400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr16:30197800-30199400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:30197800-30199600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
41	chr16:30197800-30199800	Strong transcription	Fetal Stomach	stomach
42	chr16:30198000-30199000	Genic enhancers	Fetal Muscle Leg	muscle
43	chr16:30198000-30199200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:30198000-30199200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
45	chr16:30198000-30199800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:30198000-30199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:30198200-30199000	Enhancers	Stomach Mucosa	stomach
48	chr16:30198200-30199600	Strong transcription	NHLF	lung
49	chr16:30198200-30199800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:30198200-30199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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