Variant report

Variant	nsv431458
Chromosome Location	chr16:34421701-34760999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1562)
CpG islands
(count:3300)
Chromatin interactive
region (count:7)
LncRNA
region (count:69)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:34573796-34574082	K562	blood:	n/a	n/a
2	ATF1	chr16:34486728-34487212	K562	blood:	n/a	n/a
3	ATF1	chr16:34643912-34644196	K562	blood:	n/a	n/a
4	ATF1	chr16:34574452-34574460	K562	blood:	n/a	n/a
5	ATF1	chr16:34625774-34626005	K562	blood:	n/a	n/a
6	ATF1	chr16:34715569-34715609	K562	blood:	n/a	n/a
7	ATF1	chr16:34589373-34589390	K562	blood:	n/a	n/a
8	BATF	chr16:34731803-34731989	GM12878	blood:	n/a	chr16:34731883-34731894 chr16:34731915-34731926
9	BATF	chr16:34539887-34540221	GM12878	blood:	n/a	chr16:34540044-34540055
10	BATF	chr16:34539865-34540180	GM12878	blood:	n/a	chr16:34540044-34540055
11	BATF	chr16:34731793-34732055	GM12878	blood:	n/a	chr16:34731883-34731894 chr16:34731915-34731926
12	BATF	chr16:34536693-34536965	GM12878	blood:	n/a	chr16:34536834-34536845
13	BHLHE40	chr16:34625401-34626021	K562	blood:	n/a	n/a
14	BHLHE40	chr16:34429795-34429892	K562	blood:	n/a	chr16:34429875-34429891
15	BHLHE40	chr16:34598011-34598017	K562	blood:	n/a	n/a
16	BHLHE40	chr16:34745112-34745352	K562	blood:	n/a	chr16:34745242-34745251
17	BHLHE40	chr16:34647001-34647022	GM12878	blood:	n/a	n/a
18	BHLHE40	chr16:34741044-34741235	K562	blood:	n/a	n/a
19	BHLHE40	chr16:34726730-34726951	K562	blood:	n/a	chr16:34726896-34726912
20	BHLHE40	chr16:34745103-34745432	GM12878	blood:	n/a	chr16:34745242-34745251
21	BHLHE40	chr16:34625806-34626006	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:34721874-34721912	GM12878	blood:	n/a	n/a
23	BHLHE40	chr16:34740335-34740524	K562	blood:	n/a	n/a
24	BHLHE40	chr16:34732021-34732023	GM12878	blood:	n/a	n/a
25	BRCA1	chr16:34666658-34666728	GM12878	blood:	n/a	n/a
26	BRCA1	chr16:34666402-34666616	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr16:34625799-34625988	K562	blood:	n/a	n/a
28	CEBPB	chr16:34483511-34483748	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:34759185-34759725	HepG2	liver:	n/a	chr16:34759593-34759604 chr16:34759630-34759641 chr16:34759565-34759576
30	CEBPB	chr16:34562362-34562531	A549	lung:	n/a	n/a
31	CEBPB	chr16:34715384-34715712	HepG2	liver:	n/a	n/a
32	CEBPB	chr16:34611204-34611408	HepG2	liver:	n/a	chr16:34611274-34611285
33	CEBPB	chr16:34486751-34487148	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr16:34483631-34483649	K562	blood:	n/a	n/a
35	CEBPB	chr16:34637648-34637812	K562	blood:	n/a	chr16:34637709-34637720
36	CEBPB	chr16:34611205-34611346	A549	lung:	n/a	chr16:34611274-34611285
37	CEBPB	chr16:34715416-34715653	IMR90	lung:	n/a	n/a
38	CEBPB	chr16:34539206-34539440	A549	lung:	n/a	n/a
39	CEBPB	chr16:34662346-34662546	IMR90	lung:	n/a	n/a
40	CEBPB	chr16:34637662-34637759	A549	lung:	n/a	chr16:34637709-34637720
41	CEBPB	chr16:34599887-34600514	A549	lung:	n/a	chr16:34600335-34600346
42	CEBPB	chr16:34597947-34598296	A549	lung:	n/a	n/a
43	CEBPB	chr16:34532926-34533600	ECC-1	luminal epithelium:	n/a	chr16:34533406-34533417
44	CEBPB	chr16:34536231-34536434	A549	lung:	n/a	n/a
45	CEBPB	chr16:34514068-34514216	HepG2	liver:	n/a	n/a
46	CEBPB	chr16:34685136-34685387	IMR90	lung:	n/a	n/a
47	CEBPB	chr16:34449667-34450116	A549	lung:	n/a	n/a
48	CEBPB	chr16:34532887-34533747	HepG2	liver:	n/a	chr16:34533406-34533417
49	CEBPB	chr16:34540548-34540632	IMR90	lung:	n/a	n/a
50	CEBPB	chr16:34730731-34731119	A549	lung:	n/a	n/a

(count:3300 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34648955-34649005	BJ	skin:	n/a
2	chr16:34489904-34489954	AG09309	skin:	n/a
3	chr16:34583045-34583095	HPAEpiC	pulmonary alveolar:	n/a
4	chr16:34443120-34443170	NHBE	bronchial:	n/a
5	chr16:34659664-34659714	Hepatocyte	liver:	n/a
6	chr16:34741251-34741301	Hepatocyte	liver:	n/a
7	chr16:34648955-34649005	BJ	skin:	n/a
8	chr16:34489904-34489954	AG09309	skin:	n/a
9	chr16:34583045-34583095	HPAEpiC	pulmonary alveolar:	n/a
10	chr16:34443120-34443170	NHBE	bronchial:	n/a
11	chr16:34659664-34659714	Hepatocyte	liver:	n/a
12	chr16:34741251-34741301	Hepatocyte	liver:	n/a
13	chr16:34430382-34430432	GM12892	blood:	n/a
14	chr16:34712713-34712763	ovcar-3	ovarian:	n/a
15	chr16:34741966-34742016	MCF10A-Er-Src	breast:	n/a
16	chr16:34596941-34596991	HAEpiC	amniotic membrane:	n/a
17	chr16:34456419-34456469	NT2-D1	testis:	n/a
18	chr16:34598029-34598079	AoSMC	blood vessel:	n/a
19	chr16:34726734-34726784	NT2-D1	testis:	n/a
20	chr16:34429609-34429659	AG04450	lung:	fetal
21	chr16:34442283-34442333	AG10803	skin:	n/a
22	chr16:34490033-34490083	SKMC	muscle:	n/a
23	chr16:34716002-34716052	H1-hESC	embryonic stem cell:	embryo
24	chr16:34596583-34596633	HUVEC	blood vessel:	n/a
25	chr16:34649152-34649202	GM12892	blood:	n/a
26	chr16:34625446-34625496	RPTEC	kidney:	n/a
27	chr16:34445785-34445835	Caco-2	colon:	n/a
28	chr16:34659771-34659821	NT2-D1	testis:	n/a
29	chr16:34740585-34740635	A549	lung:	n/a
30	chr16:34441787-34441837	HCT-116	colon:	n/a
31	chr16:34579002-34579052	BJ	skin:	n/a
32	chr16:34596583-34596633	BJ	skin:	n/a
33	chr16:34625446-34625496	CMK	blood:	n/a
34	chr16:34659664-34659714	HCT-116	colon:	n/a
35	chr16:34716002-34716052	AG04450	lung:	fetal
36	chr16:34598029-34598079	U87	brain:	n/a
37	chr16:34740520-34740570	H1-hESC	embryonic stem cell:	embryo
38	chr16:34587120-34587170	HEK293	kidney:	embryo
39	chr16:34740520-34740570	SKMC	muscle:	n/a
40	chr16:34431003-34431053	NHBE	bronchial:	n/a
41	chr16:34659771-34659821	SAEC	small airway:	n/a
42	chr16:34659771-34659821	T-47D	breast:	n/a
43	chr16:34716002-34716052	NB4	blood:	n/a
44	chr16:34740585-34740635	GM06990	blood:	n/a
45	chr16:34740585-34740635	AG10803	skin:	n/a
46	chr16:34489904-34489954	HRE	kidney:	n/a
47	chr16:34716002-34716052	AG04449	skin:	fetal
48	chr16:34598029-34598079	ProgFib	skin:	n/a
49	chr16:34660044-34660094	H1-hESC	embryonic stem cell:	embryo
50	chr16:34587120-34587170	ProgFib	skin:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:34429328..34431681-chr16:34466203..34469132,2	K562	blood:
2	chr15:57024256..57026523-chr16:34752267..34754460,2	MCF-7	breast:
3	chr15:56788863..56789371-chr16:34759996..34760825,2	MCF-7	breast:
4	chr16:34422640..34423667-chr16:34625487..34626782,3	MCF-7	breast:
5	chr16:34422640..34423667-chr16:34625487..34626782,3	MCF-7	breast:
6	chr16:34726782..34727382-chr16:34760283..34761051,3	MCF-7	breast:
7	chr16:34726782..34727382-chr16:34760283..34761051,3	MCF-7	breast:

(count:69 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-31	chr16:34758333-34758358	NONHSAT142207
2	lnc-CTD-2144E22.5.1-5	chr16:34482858-34483251	NONHSAT142170
3	lnc-CTD-2144E22.5.1-6	chr16:34597783-34597899	ENSG00000259841.2
4	lnc-LINC00273-24	chr16:34640118-34640617	NONHSAT142186
5	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	ENSG00000259841.2
6	lnc-CTD-2144E22.5.1-4	chr16:34477761-34477848	XLOC_011699
7	lnc-CTD-2144E22.5.1-5	chr16:34442308-34442392	ENSG00000260958.2
8	lnc-LINC00273-27	chr16:34739464-34739785	ENSG00000260857.2
9	lnc-CTD-2144E22.5.1-6	chr16:34597902-34598201	ENSG00000259841.2
10	lnc-CTD-2144E22.5.1-6	chr16:34616840-34616969	ENSG00000259841.2
11	lnc-CTD-2144E22.5.1-31	chr16:34743025-34743136	NONHSAT142207
12	lnc-CTD-2144E22.5.1-6	chr16:34620250-34620420	NONHSAT142183
13	lnc-LINC00273-25	chr16:34712988-34713065	NONHSAT142192
14	lnc-CTD-2144E22.5.1-6	chr16:34620250-34620420	ENSG00000259841.2
15	lnc-LINC00273-25	chr16:34712350-34712699	NONHSAT142191
16	lnc-CTD-2144E22.5.1-31	chr16:34751386-34751515	NONHSAT142207
17	lnc-CTD-2144E22.5.1-5	chr16:34487252-34487411	NONHSAT142170
18	lnc-CTD-2144E22.5.1-29	chr16:34723608-34724583	NONHSAT142194
19	lnc-CTD-2144E22.5.1-5	chr16:34442330-34442392	ENSG00000260958.2
20	lnc-LINC00273-22	chr16:34570437-34570514	NONHSAT142179
21	lnc-LINC00273-24	chr16:34641253-34641302	NONHSAT142186
22	lnc-CTD-2144E22.5.1-5	chr16:34487252-34487506	ENSG00000260958.2
23	lnc-CTD-2144E22.5.1-5	chr16:34518127-34518517	ENSG00000260958.2
24	lnc-CTD-2144E22.5.1-6	chr16:34617082-34617226	ENSG00000259841.2
25	lnc-CTD-2144E22.5.1-5	chr16:34487609-34488020	ENSG00000260958.2
26	lnc-LINC00273-22	chr16:34570743-34570817	NONHSAT142179
27	lnc-CTD-2144E22.5.1-4	chr16:34478641-34479038	XLOC_011699
28	lnc-LINC00273-25	chr16:34712988-34713065	NONHSAT142191
29	lnc-CTD-2144E22.5.1-31	chr16:34756490-34756676	NONHSAT142207
30	lnc-LINC00273-27	chr16:34740133-34740549	NONHSAT142200
31	lnc-CTD-2144E22.5.1-18	chr16:34493001-34494000	NONHSAT142176
32	lnc-CTD-2144E22.5.1-6	chr16:34615965-34616632	ENSG00000259841.2
33	lnc-CTD-2144E22.5.1-17	chr16:34427706-34428105	NONHSAT142163
34	lnc-LINC00273-7	chr16:34728125-34728568	ENSG00000261445.1
35	lnc-LINC00273-25	chr16:34713636-34713810	NONHSAT142192
36	lnc-LINC00273-7	chr16:34729913-34729959	ENSG00000261445.1
37	lnc-LINC00273-27	chr16:34739472-34739785	NONHSAT142200
38	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	NONHSAT142183
39	lnc-LINC00273-25	chr16:34713293-34713362	NONHSAT142192
40	lnc-LINC00273-7	chr16:34730748-34730828	ENSG00000261445.1
41	lnc-LINC00273-27	chr16:34740697-34740840	NONHSAT142198
42	lnc-LINC00273-25	chr16:34713636-34713735	NONHSAT142191
43	lnc-LINC00273-22	chr16:34569648-34570147	NONHSAT142179
44	lnc-LINC00273-23	chr16:34619259-34619457	NONHSAT142185
45	lnc-CTD-2144E22.5.1-6	chr16:34616795-34616837	ENSG00000259841.2
46	lnc-CTD-2144E22.5.1-6	chr16:34597787-34597899	NONHSAT142183
47	lnc-LINC00273-27	chr16:34740697-34740833	ENSG00000260857.2
48	lnc-CTD-2144E22.5.1-6	chr16:34612943-34613184	NONHSAT142183
49	lnc-LINC00273-24	chr16:34640930-34641001	NONHSAT142186
50	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	ENSG00000259841.2

No data

Variant related genes	Relation type
ENSG00000260073	TF binding region
RARRES2P9	TF binding region
ENSG00000259836	TF binding region
ENSG00000259897	TF binding region
ENSG00000221532	TF binding region
ENSG00000261752	TF binding region
ENSG00000264479	TF binding region
ENSG00000269622	TF binding region
ENSG00000260427	TF binding region
ENSG00000260341	TF binding region
ENSG00000261398	TF binding region
ENSG00000260291	TF binding region
ENSG00000261299	TF binding region
ENSG00000260598	TF binding region
ENSG00000260857	TF binding region
ENSG00000261445	TF binding region
AGGF1P4	TF binding region
ENSG00000260958	TF binding region
ENSG00000261350	TF binding region
ENSG00000260153	TF binding region
ENSG00000214581	TF binding region
RARRES2P5	TF binding region
ENSG00000260590	TF binding region
ENSG00000261274	TF binding region
ENSG00000259841	TF binding region
ENSG00000261711	TF binding region
RARRES2P7	TF binding region
RARRES2P6	TF binding region
ENSG00000260480	TF binding region
FGFR3P5	TF binding region
ENSG00000260680	TF binding region
ENSG00000260846	TF binding region
ENSG00000260073	CpG island
RARRES2P9	CpG island
ENSG00000259836	CpG island
ENSG00000259897	CpG island
ENSG00000221532	CpG island
ENSG00000261752	CpG island
ENSG00000264479	CpG island
ENSG00000269622	CpG island
ENSG00000260427	CpG island
ENSG00000260341	CpG island
ENSG00000261398	CpG island
ENSG00000260291	CpG island
ENSG00000261299	CpG island
ENSG00000260598	CpG island
ENSG00000260857	CpG island
ENSG00000261445	CpG island
AGGF1P4	CpG island
ENSG00000260958	CpG island
ENSG00000261350	CpG island
ENSG00000260153	CpG island
ENSG00000214581	CpG island
RARRES2P5	CpG island
ENSG00000260590	CpG island
ENSG00000261274	CpG island
ENSG00000259841	CpG island
ENSG00000261711	CpG island
RARRES2P7	CpG island
RARRES2P6	CpG island
ENSG00000260480	CpG island
FGFR3P5	CpG island
ENSG00000260680	CpG island
ENSG00000260846	CpG island
ENSG00000261398	chromatin interactions
ENSG00000260073	chromatin interactions
ENSG00000137871	chromatin interactions

Extended variants
information (count: 6122 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:6122 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2630991	chr16:34421701-34421702	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372107175	chr16:34421710-34421711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536568331	chr16:34421761-34421762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555269419	chr16:34421843-34421844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533480831	chr16:34421851-34421852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181088229	chr16:34421852-34421853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540781478	chr16:34421859-34421860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113489358	chr16:34421861-34421862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576902342	chr16:34421917-34421918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544279826	chr16:34421925-34421926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374542794	chr16:34421974-34421975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368278483	chr16:34421975-34421976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551937948	chr16:34421999-34422000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35144978	chr16:34422025-34422026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548093510	chr16:34422067-34422068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs560484341	chr16:34422079-34422080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs34986777	chr16:34422087-34422088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559970135	chr16:34422098-34422099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs186803937	chr16:34422116-34422117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372050973	chr16:34422117-34422118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376074989	chr16:34422125-34422126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570297089	chr16:34422144-34422145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546862726	chr16:34422179-34422180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551028149	chr16:34422180-34422181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369377002	chr16:34422251-34422252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569175506	chr16:34422317-34422318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141573241	chr16:34422350-34422351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537317240	chr16:34422351-34422352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs117497561	chr16:34422353-34422354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568271406	chr16:34422412-34422413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191653331	chr16:34422443-34422444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534484496	chr16:34422507-34422508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559226931	chr16:34422520-34422521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs577346175	chr16:34422523-34422524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543993367	chr16:34422601-34422602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556187921	chr16:34422631-34422632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150477107	chr16:34422671-34422672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34555583	chr16:34422690-34422691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541472066	chr16:34422745-34422746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535592815	chr16:34422748-34422749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558792471	chr16:34422766-34422767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527614769	chr16:34422782-34422783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545670467	chr16:34422784-34422785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34638101	chr16:34422872-34422873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs564151036	chr16:34422875-34422876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531502212	chr16:34422886-34422887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550807834	chr16:34422887-34422888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs569289983	chr16:34422943-34422944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184093191	chr16:34422953-34422954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs117807171	chr16:34422961-34422962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	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
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Rett syndrome	21593744	CNVD
Myelofibrosis	22110671	CNVD
Autism	19287141	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	18414403	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34419600-34422800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:34420000-34422200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:34423000-34423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:34429200-34433000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:34429400-34429600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:34429400-34430400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:34432200-34433400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:34437400-34438400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:34438400-34441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:34441200-34442800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:34441400-34442600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr16:34442000-34443200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:34442200-34443000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:34442200-34443000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:34442600-34442800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr16:34456000-34456800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:34456200-34456400	ZNF genes & repeats	Gastric	stomach
18	chr16:34456200-34456600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:34465600-34466200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:34465600-34466200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr16:34466600-34472200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:34466800-34467000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:34466800-34469400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:34467000-34468200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr16:34467000-34470200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:34468200-34469400	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr16:34474800-34476000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:34478600-34479000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr16:34480400-34481000	Enhancers	Adipose Nuclei	Adipose
30	chr16:34489600-34490400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr16:34489600-34490800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr16:34489800-34490200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr16:34492800-34493400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr16:34505000-34507800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr16:34517800-34518400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr16:34531200-34534000	Enhancers	HMEC	breast
37	chr16:34531400-34534200	Enhancers	NHEK	skin
38	chr16:34531800-34532400	Active TSS	Fetal Heart	heart
39	chr16:34533800-34534000	Enhancers	Esophagus	oesophagus
40	chr16:34534200-34538800	Weak transcription	NHEK	skin
41	chr16:34535000-34537200	Weak transcription	Esophagus	oesophagus
42	chr16:34537000-34537400	ZNF genes & repeats	Fetal Heart	heart
43	chr16:34537200-34537400	Enhancers	Esophagus	oesophagus
44	chr16:34537400-34542200	Weak transcription	Esophagus	oesophagus
45	chr16:34538000-34538800	Active TSS	Fetal Heart	heart
46	chr16:34538600-34544000	Enhancers	HMEC	breast
47	chr16:34538800-34539600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr16:34538800-34543800	Enhancers	NHEK	skin
49	chr16:34539400-34539800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:34539800-34540200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links