Variant report

Variant	nsv572223
Chromosome Location	chr16:33371484-33779844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3134)
CpG islands
(count:1770)
Chromatin interactive
region (count:23)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3134 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:33502987-33503033	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:33577202-33577382	HepG2	liver:	n/a	n/a
3	ATF1	chr16:33544959-33544976	K562	blood:	n/a	n/a
4	ATF1	chr16:33535249-33535260	K562	blood:	n/a	n/a
5	ATF1	chr16:33446622-33446661	K562	blood:	n/a	n/a
6	ATF3	chr16:33569376-33569681	K562	blood:	n/a	n/a
7	ATF3	chr16:33619018-33619453	K562	blood:	n/a	n/a
8	ATF3	chr16:33569464-33569595	GM12878	blood:	n/a	n/a
9	ATF3	chr16:33764110-33764276	K562	blood:	n/a	n/a
10	BATF	chr16:33521180-33521433	GM12878	blood:	n/a	n/a
11	BATF	chr16:33589201-33589438	GM12878	blood:	n/a	n/a
12	BATF	chr16:33448799-33449188	GM12878	blood:	n/a	chr16:33449053-33449063
13	BATF	chr16:33446462-33446750	GM12878	blood:	n/a	n/a
14	BATF	chr16:33445748-33446186	GM12878	blood:	n/a	chr16:33445964-33445975 chr16:33445982-33445990
15	BATF	chr16:33716043-33716353	GM12878	blood:	n/a	n/a
16	BATF	chr16:33521242-33521484	GM12878	blood:	n/a	n/a
17	BATF	chr16:33673521-33673717	GM12878	blood:	n/a	n/a
18	BATF	chr16:33647061-33647311	GM12878	blood:	n/a	n/a
19	BATF	chr16:33763898-33764246	GM12878	blood:	n/a	n/a
20	BATF	chr16:33517619-33517865	GM12878	blood:	n/a	n/a
21	BATF	chr16:33445892-33446115	GM12878	blood:	n/a	chr16:33445964-33445975 chr16:33445982-33445990
22	BATF	chr16:33524710-33524926	GM12878	blood:	n/a	chr16:33524743-33524752
23	BATF	chr16:33517629-33517889	GM12878	blood:	n/a	n/a
24	BATF	chr16:33431461-33431755	GM12878	blood:	n/a	chr16:33431606-33431617
25	BATF	chr16:33524553-33524907	GM12878	blood:	n/a	chr16:33524743-33524752
26	BATF	chr16:33564248-33564454	GM12878	blood:	n/a	n/a
27	BATF	chr16:33448828-33449178	GM12878	blood:	n/a	chr16:33449053-33449063
28	BATF	chr16:33722423-33722618	GM12878	blood:	n/a	n/a
29	BATF	chr16:33585762-33586003	GM12878	blood:	n/a	n/a
30	BATF	chr16:33563865-33564062	GM12878	blood:	n/a	n/a
31	BATF	chr16:33458798-33459290	GM12878	blood:	n/a	n/a
32	BATF	chr16:33431441-33431744	GM12878	blood:	n/a	chr16:33431606-33431617
33	BCL11A	chr16:33460213-33460485	GM12878	blood:	n/a	chr16:33460375-33460384
34	BCL11A	chr16:33446218-33446393	GM12878	blood:	n/a	n/a
35	BCL11A	chr16:33585333-33585647	GM12878	blood:	n/a	n/a
36	BCL11A	chr16:33493442-33493790	GM12878	blood:	n/a	n/a
37	BCL11A	chr16:33524561-33524846	GM12878	blood:	n/a	n/a
38	BCL11A	chr16:33722355-33722924	GM12878	blood:	n/a	n/a
39	BCL11A	chr16:33518137-33518397	GM12878	blood:	n/a	n/a
40	BCL11A	chr16:33647047-33647229	GM12878	blood:	n/a	n/a
41	BCL11A	chr16:33448833-33449216	GM12878	blood:	n/a	chr16:33449056-33449065 chr16:33449055-33449064
42	BCL11A	chr16:33460174-33460528	GM12878	blood:	n/a	chr16:33460375-33460384
43	BCL11A	chr16:33517674-33517848	GM12878	blood:	n/a	n/a
44	BCL11A	chr16:33763969-33764256	GM12878	blood:	n/a	n/a
45	BCL11A	chr16:33722347-33722700	GM12878	blood:	n/a	n/a
46	BCL11A	chr16:33521194-33521489	GM12878	blood:	n/a	n/a
47	BCL11A	chr16:33492453-33492646	GM12878	blood:	n/a	n/a
48	BCL11A	chr16:33458814-33459180	GM12878	blood:	n/a	n/a
49	BCL11A	chr16:33664436-33664652	GM12878	blood:	n/a	n/a
50	BCL11A	chr16:33582517-33582748	GM12878	blood:	n/a	n/a

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:33571945-33571995	CMK	blood:	n/a
2	chr16:33571945-33571995	CMK	blood:	n/a
3	chr16:33574151-33574201	GM06990	blood:	n/a
4	chr16:33483299-33483349	AG09309	skin:	n/a
5	chr16:33483462-33483512	GM06990	blood:	n/a
6	chr16:33573857-33573907	IMR90	lung:	fetal
7	chr16:33605185-33605235	HCM	heart:	n/a
8	chr16:33730720-33730770	NB4	blood:	n/a
9	chr16:33627536-33627586	NH-A	brain:	n/a
10	chr16:33730539-33730589	BJ	skin:	n/a
11	chr16:33730558-33730608	HCPEpiC	choroid plexus:	n/a
12	chr16:33605185-33605235	Hepatocyte	liver:	n/a
13	chr16:33730539-33730589	HPAEpiC	pulmonary alveolar:	n/a
14	chr16:33483244-33483294	HUVEC	blood vessel:	n/a
15	chr16:33776910-33776960	HEK293	kidney:	embryo
16	chr16:33571945-33571995	Hela-S3	cervix:	n/a
17	chr16:33627536-33627586	AG04450	lung:	fetal
18	chr16:33570115-33570165	LNCaP	prostate:	n/a
19	chr16:33734837-33734887	RPTEC	kidney:	n/a
20	chr16:33570021-33570071	HEK293	kidney:	embryo
21	chr16:33627536-33627586	GM12878	blood:	n/a
22	chr16:33730558-33730608	K562	blood:	n/a
23	chr16:33570021-33570071	SKMC	muscle:	n/a
24	chr16:33605185-33605235	HUVEC	blood vessel:	n/a
25	chr16:33483299-33483349	Hela-S3	cervix:	n/a
26	chr16:33627215-33627265	AoSMC	blood vessel:	n/a
27	chr16:33605185-33605235	HCT-116	colon:	n/a
28	chr16:33570021-33570071	RPTEC	kidney:	n/a
29	chr16:33509433-33509483	GM12878	blood:	n/a
30	chr16:33627215-33627265	HCF	heart:	n/a
31	chr16:33574151-33574201	HRPEpiC	eye:	n/a
32	chr16:33483591-33483641	PANC-1	pancreas:	n/a
33	chr16:33604228-33604278	GM12892	blood:	n/a
34	chr16:33483244-33483294	K562	blood:	n/a
35	chr16:33574151-33574201	NHBE	bronchial:	n/a
36	chr16:33483297-33483347	SKMC	muscle:	n/a
37	chr16:33487438-33487488	SKMC	muscle:	n/a
38	chr16:33573272-33573322	HRE	kidney:	n/a
39	chr16:33570115-33570165	PFSK-1	brain:	n/a
40	chr16:33605185-33605235	GM06990	blood:	n/a
41	chr16:33627536-33627586	NT2-D1	testis:	n/a
42	chr16:33483462-33483512	CMK	blood:	n/a
43	chr16:33483299-33483349	IMR90	lung:	fetal
44	chr16:33374028-33374078	HRPEpiC	eye:	n/a
45	chr16:33374131-33374181	AG10803	skin:	n/a
46	chr16:33732255-33732305	NHBE	bronchial:	n/a
47	chr16:33481620-33481670	GM12878	blood:	n/a
48	chr16:33730720-33730770	HL-60	blood:	n/a
49	chr16:33509523-33509573	Hepatocyte	liver:	n/a
50	chr16:33374161-33374211	MCF10A-Er-Src	breast:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:33599590..33601128-chr16:33607194..33610110,2	K562	blood:
2	chr16:33618632..33619607-chr16:33646788..33647301,2	MCF-7	breast:
3	chr16:32993835..32994354-chr16:33619041..33619624,2	MCF-7	breast:
4	chr16:33501621..33504383-chr16:33506713..33508666,2	K562	blood:
5	chr16:33374454..33377112-chr16:33390580..33392185,2	MCF-7	breast:
6	chr16:33599590..33601128-chr16:33607194..33610110,2	K562	blood:
7	chr13:30046484..30047067-chr16:33618956..33619795,2	MCF-7	breast:
8	chr16:33501621..33504383-chr16:33506713..33508666,2	K562	blood:
9	chr16:33535568..33538409-chr16:33539107..33541473,2	K562	blood:
10	chr16:33618887..33619679-chr16:33739842..33740784,2	MCF-7	breast:
11	chr16:32876653..32877208-chr16:33618895..33619446,2	MCF-7	breast:
12	chr16:33618687..33619546-chr21:22589708..22590404,2	MCF-7	breast:
13	chr16:33374454..33377112-chr16:33390580..33392185,2	MCF-7	breast:
14	chr16:32951293..32951850-chr16:33618657..33619267,2	MCF-7	breast:
15	chr1:121484857..121485377-chr16:33618718..33619247,2	MCF-7	breast:
16	chr16:33618869..33619686-chr16:33955996..33956882,3	MCF-7	breast:
17	chr16:33535568..33538409-chr16:33539107..33541473,2	K562	blood:
18	chr16:33618559..33619759-chr16:33646461..33647717,8	MCF-7	breast:
19	chr16:33618887..33619679-chr16:33739842..33740784,2	MCF-7	breast:
20	chr16:33618975..33619481-chr6:120699536..120700074,2	MCF-7	breast:
21	chr14:107287133..107287781-chr16:33618600..33619120,3	MCF-7	breast:
22	chr16:33618632..33619607-chr16:33646788..33647301,2	MCF-7	breast:
23	chr12:123886567..123888097-chr16:33420189..33423186,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC140658.1-6	chr16:33776448-33776670	ENSG00000205452.4
2	lnc-AC140658.1-6	chr16:33778750-33778813	ENSG00000205452.4
3	lnc-AC136428.1.1-10	chr16:33677891-33677935	NONHSAT142113
4	lnc-AC136428.1.1-1	chr16:33661251-33661331	ENSG00000260312.1
5	lnc-AC140658.1-5	chr16:33768513-33768558	NONHSAT142119
6	lnc-AC140658.1-6	chr16:33777235-33777744	ENSG00000205452.4
7	lnc-AC136428.1.1-1	chr16:33660402-33660589	ENSG00000260312.1
8	lnc-AC136428.1.1-10	chr16:33677506-33677808	NONHSAT142113
9	lnc-AC140658.1-6	chr16:33775379-33776670	ENSG00000205452.4
10	lnc-AC140658.1-6	chr16:33776833-33776957	ENSG00000205452.4
11	lnc-AC136428.1.1-1	chr16:33661001-33661077	ENSG00000260312.1
12	lnc-AC140658.1-6	chr16:33775514-33776189	ENSG00000205452.4
13	lnc-AC140658.1-3	chr16:33750745-33751015	NONHSAT142117
14	lnc-AC140658.1-6	chr16:33776476-33776670	ENSG00000205452.4
15	lnc-AC140658.1-6	chr16:33777320-33777532	ENSG00000205452.4
16	lnc-AC140658.1-5	chr16:33768122-33768427	NONHSAT142119
17	lnc-AC140658.1-6	chr16:33777416-33777550	ENSG00000205452.4

No data

Variant related genes	Relation type
ENSG00000205452	TF binding region
ENSG00000260525	TF binding region
IGHV3OR16-16	TF binding region
ENSG00000261153	TF binding region
ENSG00000259680	TF binding region
ENSG00000260312	TF binding region
ENSG00000263277	TF binding region
ENSG00000261405	TF binding region
IGHV3OR16-13	TF binding region
ENPP7P13	TF binding region
ENSG00000198555	TF binding region
ENSG00000261607	TF binding region
IGHV3OR16-12	TF binding region
ENSG00000259882	TF binding region
ENSG00000270401	TF binding region
ENSG00000260308	TF binding region
IGHV3OR16-11	TF binding region
IGHV3OR16-7	TF binding region
ENSG00000271691	TF binding region
ENSG00000270924	TF binding region
ARHGAP23P1	TF binding region
BMS1P8	TF binding region
ENSG00000205452	CpG island
ENSG00000260525	CpG island
IGHV3OR16-16	CpG island
ENSG00000261153	CpG island
ENSG00000259680	CpG island
ENSG00000260312	CpG island
ENSG00000263277	CpG island
ENSG00000261405	CpG island
IGHV3OR16-13	CpG island
ENPP7P13	CpG island
ENSG00000198555	CpG island
ENSG00000261607	CpG island
IGHV3OR16-12	CpG island
ENSG00000259882	CpG island
ENSG00000270401	CpG island
ENSG00000260308	CpG island
IGHV3OR16-11	CpG island
IGHV3OR16-7	CpG island
ENSG00000271691	CpG island
ENSG00000270924	CpG island
ARHGAP23P1	CpG island
BMS1P8	CpG island
ENSG00000259680	chromatin interactions

Extended variants
information (count: 9452 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:9452 , 50 per page) page: 1 2 3 4 5 6 7 ... 190

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11643832	chr16:33371484-33371485	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541949088	chr16:33371520-33371521	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560235581	chr16:33371523-33371524	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527847149	chr16:33371534-33371535	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1007145	chr16:33371537-33371538	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552745312	chr16:33371543-33371544	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564577060	chr16:33371546-33371547	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369815011	chr16:33371554-33371555	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368413350	chr16:33371564-33371565	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532076554	chr16:33371565-33371566	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1985651	chr16:33371599-33371600	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549791958	chr16:33371601-33371602	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568094832	chr16:33371621-33371622	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535519015	chr16:33371655-33371656	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs55932493	chr16:33371658-33371659	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547483741	chr16:33371681-33371682	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565780082	chr16:33371701-33371702	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539213632	chr16:33371718-33371719	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557981293	chr16:33371735-33371736	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576248689	chr16:33371748-33371749	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536984319	chr16:33371749-33371750	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62031949	chr16:33371750-33371751	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556117439	chr16:33371764-33371765	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574464274	chr16:33371805-33371806	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62031950	chr16:33371807-33371808	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62031951	chr16:33371811-33371812	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541836683	chr16:33371832-33371833	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62031952	chr16:33371874-33371875	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs560172566	chr16:33371901-33371902	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs58426193	chr16:33371944-33371945	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs56979668	chr16:33372003-33372004	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375656481	chr16:33372009-33372010	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572503984	chr16:33372038-33372039	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546076982	chr16:33372048-33372049	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564740683	chr16:33372059-33372060	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531893435	chr16:33372122-33372123	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368351377	chr16:33372131-33372132	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550521011	chr16:33372137-33372138	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs193135029	chr16:33372142-33372143	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112019920	chr16:33372192-33372193	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562385683	chr16:33372278-33372279	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528857194	chr16:33372282-33372283	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs60235263	chr16:33372394-33372395	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs397797336	chr16:33372399-33372400	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs547420999	chr16:33372424-33372425	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7185052	chr16:33372477-33372478	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7206361	chr16:33372520-33372521	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565637594	chr16:33372565-33372566	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539562200	chr16:33372618-33372619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551272121	chr16:33372625-33372626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
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
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Autism	19287141	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33371200-33372400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr16:33371200-33372800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:33371600-33372600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr16:33373600-33373800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:33373800-33374000	Enhancers	Placenta	Placenta
6	chr16:33373800-33374400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr16:33373800-33377000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:33374000-33374400	Bivalent Enhancer	Placenta	Placenta
9	chr16:33374600-33376600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:33375200-33375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr16:33375200-33375800	ZNF genes & repeats	Right Ventricle	heart
12	chr16:33375400-33375800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:33375400-33376000	Bivalent Enhancer	Placenta	Placenta
14	chr16:33375400-33377200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:33376000-33376800	Enhancers	Placenta	Placenta
16	chr16:33377600-33382200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:33378200-33382600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr16:33379400-33380400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:33379600-33380200	ZNF genes & repeats	Gastric	stomach
20	chr16:33379600-33380600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:33380000-33380400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr16:33381200-33383400	Enhancers	Placenta	Placenta
23	chr16:33382200-33382400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:33383200-33383600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:33383400-33388600	Weak transcription	Placenta	Placenta
26	chr16:33384600-33389000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr16:33385800-33387400	Enhancers	GM12878-XiMat	blood
28	chr16:33388600-33388800	Enhancers	Placenta	Placenta
29	chr16:33388800-33390000	Weak transcription	Placenta	Placenta
30	chr16:33390000-33392800	Enhancers	Placenta	Placenta
31	chr16:33390600-33391600	Enhancers	Left Ventricle	heart
32	chr16:33390600-33392200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr16:33391600-33392400	ZNF genes & repeats	Fetal Brain Male	brain
34	chr16:33395800-33396200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:33396000-33396400	Bivalent Enhancer	Placenta	Placenta
36	chr16:33397600-33398400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:33401200-33407200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:33401400-33402400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr16:33402200-33406200	Enhancers	Primary B cells from peripheral blood	blood
40	chr16:33403000-33403600	Enhancers	Primary B cells from cord blood	blood
41	chr16:33403400-33403800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:33403400-33405000	Enhancers	GM12878-XiMat	blood
43	chr16:33403400-33407000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:33406600-33406800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr16:33406600-33406800	Bivalent Enhancer	Placenta	Placenta
46	chr16:33406600-33406800	ZNF genes & repeats	Gastric	stomach
47	chr16:33406600-33407000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:33406600-33407000	ZNF genes & repeats	Spleen	Spleen
49	chr16:33406800-33408400	Weak transcription	Gastric	stomach
50	chr16:33407000-33408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links