Variant report

Variant	nsv833211
Chromosome Location	chr16:34266209-34389691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:34368818-34369342	ECC-1	luminal epithelium:	n/a	chr16:34369018-34369029
2	CEBPB	chr16:34369463-34369642	A549	lung:	n/a	chr16:34369584-34369595
3	CEBPB	chr16:34368784-34369416	ECC-1	luminal epithelium:	n/a	chr16:34369018-34369029
4	CEBPB	chr16:34369435-34369709	HepG2	liver:	n/a	chr16:34369584-34369595
5	CEBPB	chr16:34296958-34297110	A549	lung:	n/a	n/a
6	CEBPB	chr16:34369427-34369724	ECC-1	luminal epithelium:	n/a	chr16:34369584-34369595
7	CEBPB	chr16:34357489-34357722	HepG2	liver:	n/a	chr16:34357610-34357623 chr16:34357611-34357622
8	CEBPB	chr16:34368953-34369173	HepG2	liver:	n/a	chr16:34369018-34369029
9	CEBPZ	chr16:34280323-34280363	HepG2	liver:	n/a	n/a
10	CTCF	chr16:34337260-34337410	GM12875	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
11	CTCF	chr16:34337280-34337430	GM12864	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
12	CTCF	chr16:34337280-34337430	HCT-116	colon:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
13	CTCF	chr16:34337287-34337450	GM19240	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
14	CTCF	chr16:34337240-34337390	NHLF	lung:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
15	CTCF	chr16:34337180-34337330	HVMF	connective:	n/a	n/a
16	CTCF	chr16:34337200-34337350	AoAF	blood vessel:	n/a	chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
17	CTCF	chr16:34337280-34337430	SAEC	small airway:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
18	CTCF	chr16:34337280-34337430	GM12865	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
19	CTCF	chr16:34283400-34283550	GM12872	blood:	n/a	n/a
20	CTCF	chr16:34283420-34283570	NB4	blood:	n/a	n/a
21	CTCF	chr16:34337200-34337350	GM12873	blood:	n/a	chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
22	CTCF	chr16:34337260-34337410	GM12867	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
23	CTCF	chr16:34337240-34337390	GM12864	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
24	CTCF	chr16:34337300-34337450	GM12865	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
25	CTCF	chr16:34301640-34301790	WI-38	lung:	n/a	n/a
26	CTCF	chr16:34299340-34299490	HMEC	breast:	n/a	chr16:34299443-34299451 chr16:34299443-34299464 chr16:34299441-34299459 chr16:34299467-34299480 chr16:34299444-34299457
27	CTCF	chr16:34283460-34283610	HepG2	liver:	n/a	n/a
28	CTCF	chr16:34337189-34337488	GM12878	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
29	CTCF	chr16:34337260-34337410	Hela-S3	cervix:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
30	CTCF	chr16:34337240-34337390	GM12871	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
31	CTCF	chr16:34337253-34337413	SK-N-SH_RA	brain:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
32	CTCF	chr16:34337260-34337410	SK-N-SH_RA	brain:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
33	CTCF	chr16:34384254-34384260	LNCaP	prostate:	n/a	n/a
34	CTCF	chr16:34337260-34337410	K562	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
35	CTCF	chr16:34337303-34337399	Hela-S3	cervix:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
36	CTCF	chr16:34337300-34337450	HEEpiC	esophagus:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
37	CTCF	chr16:34337336-34337463	GM12878	blood:	n/a	chr16:34337338-34337346
38	CTCF	chr16:34337280-34337430	WERI-Rb-1	eye:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
39	CTCF	chr16:34337300-34337450	GM12871	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
40	CTCF	chr16:34337245-34337473	MCF-7	breast:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
41	CTCF	chr16:34337260-34337410	MCF-7	breast:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
42	CTCF	chr16:34337260-34337410	NB4	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
43	CTCF	chr16:34337298-34337464	GM12891	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
44	CTCF	chr16:34337260-34337410	BE2_C	brain:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
45	CTCF	chr16:34337273-34337448	H1-hESC	embryonic stem cell:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
46	CTCF	chr16:34337300-34337450	GM12873	blood:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
47	CTCF	chr16:34337182-34337409	T-47D	breast:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
48	CTCF	chr16:34337200-34337350	BJ	skin:	n/a	chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
49	CTCF	chr16:34337239-34337413	HepG2	liver:	n/a	chr16:34337333-34337351 chr16:34337338-34337346 chr16:34337328-34337349 chr16:34337334-34337350
50	CTCF	chr16:34384421-34384572	NHEK	skin:	n/a	chr16:34384472-34384490 chr16:34384473-34384489 chr16:34384467-34384488 chr16:34384479-34384487 chr16:34384474-34384487

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34378069-34378119	SAEC	small airway:	n/a
2	chr16:34295377-34295427	AG09319	gingival:	n/a
3	chr16:34375039-34375089	PANC-1	pancreas:	n/a
4	chr16:34295916-34295966	HPAEpiC	pulmonary alveolar:	n/a
5	chr16:34378069-34378119	SAEC	small airway:	n/a
6	chr16:34295377-34295427	AG09319	gingival:	n/a
7	chr16:34375039-34375089	PANC-1	pancreas:	n/a
8	chr16:34295916-34295966	HPAEpiC	pulmonary alveolar:	n/a
9	chr16:34378804-34378854	AG09309	skin:	n/a
10	chr16:34295916-34295966	NHDF-neo	bronchial:	n/a
11	chr16:34378497-34378547	NHDF-neo	bronchial:	n/a
12	chr16:34295916-34295966	NHBE	bronchial:	n/a
13	chr16:34375288-34375338	GM12878	blood:	n/a
14	chr16:34375039-34375089	NB4	blood:	n/a
15	chr16:34293670-34293720	ProgFib	skin:	n/a
16	chr16:34295916-34295966	LNCaP	prostate:	n/a
17	chr16:34295778-34295828	BE2_C	brain:	n/a
18	chr16:34378069-34378119	AG09309	skin:	n/a
19	chr16:34299638-34299688	MCF-7	breast:	n/a
20	chr16:34378069-34378119	NT2-D1	testis:	n/a
21	chr16:34299638-34299688	HRCEpiC	kidney:	n/a
22	chr16:34378069-34378119	Caco-2	colon:	n/a
23	chr16:34378069-34378119	HEEpiC	esophagus:	n/a
24	chr16:34293670-34293720	CMK	blood:	n/a
25	chr16:34295916-34295966	BJ	skin:	n/a
26	chr16:34295778-34295828	SK-N-SH_RA	brain:	n/a
27	chr16:34380215-34380265	NT2-D1	testis:	n/a
28	chr16:34375039-34375089	T-47D	breast:	n/a
29	chr16:34293670-34293720	ovcar-3	ovarian:	n/a
30	chr16:34295916-34295966	NH-A	brain:	n/a
31	chr16:34293670-34293720	A549	lung:	n/a
32	chr16:34292178-34292228	SK-N-SH_RA	brain:	n/a
33	chr16:34375039-34375089	HCF	heart:	n/a
34	chr16:34292178-34292228	HCPEpiC	choroid plexus:	n/a
35	chr16:34296108-34296158	SK-N-SH	brain:	n/a
36	chr16:34293670-34293720	HRCEpiC	kidney:	n/a
37	chr16:34299638-34299688	GM12878	blood:	n/a
38	chr16:34375288-34375338	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:34295377-34295427	HMEC	breast:	n/a
40	chr16:34378497-34378547	HRPEpiC	eye:	n/a
41	chr16:34296108-34296158	AoSMC	blood vessel:	n/a
42	chr16:34378804-34378854	SK-N-MC	brain:	n/a
43	chr16:34293670-34293720	HUVEC	blood vessel:	n/a
44	chr16:34295916-34295966	HMEC	breast:	n/a
45	chr16:34296108-34296158	MCF-7	breast:	n/a
46	chr16:34293278-34293328	PrEC	prostate:	n/a
47	chr16:34299638-34299688	AG10803	skin:	n/a
48	chr16:34296108-34296158	HEK293	kidney:	embryo
49	chr16:34378804-34378854	MCF10A-Er-Src	breast:	n/a
50	chr16:34295916-34295966	HEK293	kidney:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-14	chr16:34368885-34369446	NONHSAT142152
2	lnc-LINC00273-15	chr16:34383828-34384161	NONHSAT142158
3	lnc-CTD-2144E22.5.1-12	chr16:34320267-34320490	NONHSAT142151

Variant related genes	Relation type
ENSG00000261510	TF binding region
ENSG00000260449	TF binding region
ENSG00000261053	TF binding region
ENSG00000261836	TF binding region
ENSG00000260809	TF binding region
VN1R69P	TF binding region
VN1R68P	TF binding region
ENSG00000261800	TF binding region
ENSG00000261510	CpG island
ENSG00000260449	CpG island
ENSG00000261053	CpG island
ENSG00000261836	CpG island
ENSG00000260809	CpG island
VN1R69P	CpG island
VN1R68P	CpG island
ENSG00000261800	CpG island

Extended variants
information (count: 1491 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552426376	chr16:34267420-34267421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs578006840	chr16:34267428-34267429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564292715	chr16:34267509-34267510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543857317	chr16:34267531-34267532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143103646	chr16:34268257-34268258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184577945	chr16:34268271-34268272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562624397	chr16:34268274-34268275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376366076	chr16:34268275-34268276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564231366	chr16:34268288-34268289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs59344183	chr16:34268320-34268321	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs58636981	chr16:34268325-34268326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560190518	chr16:34268329-34268330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs57537885	chr16:34268344-34268345	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374379188	chr16:34268372-34268373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377683734	chr16:34268374-34268375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370947013	chr16:34268375-34268376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527424282	chr16:34268377-34268378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374159528	chr16:34268378-34268379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530090341	chr16:34268395-34268396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs142798713	chr16:34268399-34268400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62059477	chr16:34268698-34268699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114015791	chr16:34268719-34268720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188657205	chr16:34268721-34268722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557813712	chr16:34268749-34268750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571712641	chr16:34268778-34268779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150921966	chr16:34268791-34268792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs578150048	chr16:34285000-34285001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189955991	chr16:34285004-34285005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575919788	chr16:34285043-34285044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78858036	chr16:34285044-34285045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546075051	chr16:34285055-34285056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530670730	chr16:34285111-34285112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549014953	chr16:34285121-34285122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561125621	chr16:34285132-34285133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115779898	chr16:34285138-34285139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545639923	chr16:34285170-34285171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs367810444	chr16:34285173-34285174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566144614	chr16:34285180-34285181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564714848	chr16:34285198-34285199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77603810	chr16:34285213-34285214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183503503	chr16:34285251-34285252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146714457	chr16:34285275-34285276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557654512	chr16:34285286-34285287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140345228	chr16:34285291-34285292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555831627	chr16:34285314-34285315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145494861	chr16:34285364-34285365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534938581	chr16:34285443-34285444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs137933363	chr16:34285495-34285496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576019350	chr16:34285518-34285519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577291247	chr16:34285552-34285553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Ductal carcinoma	22052326	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
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
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34267400-34267600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr16:34268200-34268400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:34268600-34268800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:34285000-34285600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:34285600-34286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:34286200-34287200	Enhancers	Colon Smooth Muscle	Colon
7	chr16:34286400-34286800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:34287200-34288000	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:34288200-34288400	Enhancers	Colon Smooth Muscle	Colon
10	chr16:34299000-34299600	ZNF genes & repeats	Spleen	Spleen
11	chr16:34299000-34303000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr16:34299000-34303200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:34300000-34304400	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr16:34301000-34301200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:34301200-34301600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr16:34301800-34302800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:34302000-34305400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr16:34302200-34302800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
19	chr16:34309600-34310000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:34315800-34316000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:34315800-34316600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr16:34315800-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:34353000-34353200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:34368800-34369200	Enhancers	NHEK	skin
25	chr16:34369200-34369400	Enhancers	HMEC	breast
26	chr16:34369200-34369400	Flanking Active TSS	NHEK	skin
27	chr16:34369200-34370600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:34369400-34369600	Enhancers	NHEK	skin
29	chr16:34369400-34369800	Flanking Active TSS	HMEC	breast
30	chr16:34369600-34369800	Flanking Active TSS	NHEK	skin
31	chr16:34369800-34370600	Enhancers	HMEC	breast
32	chr16:34369800-34370600	Enhancers	NHEK	skin
33	chr16:34370600-34371600	Weak transcription	NHEK	skin
34	chr16:34370600-34371800	Weak transcription	HMEC	breast
35	chr16:34371600-34372400	Enhancers	NHEK	skin
36	chr16:34371800-34372200	Enhancers	HMEC	breast
37	chr16:34374000-34387000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:34374200-34376800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:34374600-34374800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:34379000-34384200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:34380400-34385200	ZNF genes & repeats	Fetal Brain Female	brain
42	chr16:34380800-34383200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr16:34381000-34382400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:34382600-34382800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:34385200-34385800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:34386000-34386200	ZNF genes & repeats	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links