Variant report

Variant	nsv518129
Chromosome Location	chr16:82188173-82228076
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	ARID3A	chr16:82203782-82203982	K562	blood:	n/a	n/a
2	ARID3A	chr16:82203663-82204220	HepG2	liver:	n/a	n/a
3	ATF3	chr16:82203551-82204057	HepG2	liver:	n/a	chr16:82203971-82203980 chr16:82203909-82203918
4	ATF3	chr16:82203551-82203958	K562	blood:	n/a	chr16:82203909-82203918
5	BACH1	chr16:82204199-82204294	K562	blood:	n/a	n/a
6	BACH1	chr16:82203841-82204108	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr16:82203666-82204152	GM12878	blood:	n/a	n/a
8	BHLHE40	chr16:82203428-82204348	HepG2	liver:	n/a	n/a
9	BHLHE40	chr16:82203395-82204432	K562	blood:	n/a	n/a
10	BHLHE40	chr16:82200782-82200796	K562	blood:	n/a	n/a
11	BHLHE40	chr16:82203561-82204092	GM12878	blood:	n/a	n/a
12	BRCA1	chr16:82203499-82203957	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr16:82203568-82203959	HepG2	liver:	n/a	n/a
14	CBX3	chr16:82203410-82204468	K562	blood:	n/a	n/a
15	CCNT2	chr16:82203351-82204398	K562	blood:	n/a	n/a
16	CEBPB	chr16:82216610-82217028	MCF-7	breast:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
17	CEBPB	chr16:82190820-82191192	HepG2	liver:	n/a	chr16:82190996-82191007
18	CEBPB	chr16:82203556-82204068	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr16:82214669-82214912	HepG2	liver:	n/a	chr16:82214779-82214790
20	CEBPB	chr16:82190805-82191146	K562	blood:	n/a	chr16:82190996-82191007
21	CEBPB	chr16:82203751-82203965	HepG2	liver:	n/a	n/a
22	CEBPB	chr16:82216645-82217003	IMR90	lung:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
23	CEBPB	chr16:82217900-82218096	HepG2	liver:	n/a	chr16:82217954-82217965
24	CEBPB	chr16:82190815-82191229	MCF-7	breast:	n/a	chr16:82190996-82191007
25	CEBPB	chr16:82217876-82218098	IMR90	lung:	n/a	chr16:82217954-82217965
26	CEBPB	chr16:82216642-82217019	K562	blood:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
27	CEBPB	chr16:82209244-82209572	IMR90	lung:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
28	CEBPB	chr16:82190786-82191267	MCF-7	breast:	n/a	chr16:82190996-82191007
29	CEBPB	chr16:82216654-82216987	A549	lung:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
30	CEBPB	chr16:82189376-82189568	K562	blood:	n/a	n/a
31	CEBPB	chr16:82190873-82191115	H1-hESC	embryonic stem cell:	n/a	chr16:82190996-82191007
32	CEBPB	chr16:82216721-82216979	H1-hESC	embryonic stem cell:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
33	CEBPB	chr16:82190820-82191450	K562	blood:	n/a	chr16:82190996-82191007
34	CEBPB	chr16:82226258-82226773	IMR90	lung:	n/a	n/a
35	CEBPB	chr16:82190811-82191204	IMR90	lung:	n/a	chr16:82190996-82191007
36	CEBPB	chr16:82216402-82217002	HepG2	liver:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216433-82216444 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
37	CEBPB	chr16:82209244-82209577	K562	blood:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
38	CEBPB	chr16:82209253-82209562	A549	lung:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
39	CEBPB	chr16:82209387-82209527	H1-hESC	embryonic stem cell:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
40	CEBPB	chr16:82209296-82209544	Hela-S3	cervix:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
41	CEBPB	chr16:82209244-82209596	HepG2	liver:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
42	CEBPB	chr16:82190836-82191169	Hela-S3	cervix:	n/a	chr16:82190996-82191007
43	CEBPB	chr16:82205635-82205861	A549	lung:	n/a	n/a
44	CEBPB	chr16:82190791-82191296	A549	lung:	n/a	chr16:82190996-82191007
45	CEBPB	chr16:82205664-82205809	IMR90	lung:	n/a	n/a
46	CEBPB	chr16:82216650-82217000	Hela-S3	cervix:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
47	CEBPB	chr16:82190844-82191194	A549	lung:	n/a	chr16:82190996-82191007
48	CEBPD	chr16:82203484-82204114	HepG2	liver:	n/a	n/a
49	CHD1	chr16:82203633-82203647	GM12878	blood:	n/a	n/a
50	CHD1	chr16:82203241-82203743	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82203649-82203699	HEK293	kidney:	embryo
2	chr16:82203649-82203699	HEK293	kidney:	embryo
3	chr16:82203585-82203635	HCM	heart:	n/a
4	chr16:82203585-82203635	Hela-S3	cervix:	n/a
5	chr16:82204172-82204222	SK-N-SH_RA	brain:	n/a
6	chr16:82204046-82204096	HEK293	kidney:	embryo
7	chr16:82203996-82204046	GM12892	blood:	n/a
8	chr16:82203986-82204036	NHDF-neo	bronchial:	n/a
9	chr16:82203649-82203699	SK-N-SH_RA	brain:	n/a
10	chr16:82204964-82205014	MCF-7	breast:	n/a
11	chr16:82204964-82205014	GM12878	blood:	n/a
12	chr16:82204964-82205014	AG04449	skin:	fetal
13	chr16:82204391-82204441	PrEC	prostate:	n/a
14	chr16:82204401-82204451	GM06990	blood:	n/a
15	chr16:82203702-82203752	NH-A	brain:	n/a
16	chr16:82203996-82204046	ovcar-3	ovarian:	n/a
17	chr16:82191819-82191869	MCF10A-Er-Src	breast:	n/a
18	chr16:82203988-82204038	HPAEpiC	pulmonary alveolar:	n/a
19	chr16:82204046-82204096	ECC-1	luminal epithelium:	n/a
20	chr16:82204167-82204217	HEK293	kidney:	embryo
21	chr16:82204172-82204222	AG09309	skin:	n/a
22	chr16:82226584-82226634	NHBE	bronchial:	n/a
23	chr16:82203988-82204038	GM06990	blood:	n/a
24	chr16:82203986-82204036	ECC-1	luminal epithelium:	n/a
25	chr16:82206435-82206485	NHDF-neo	bronchial:	n/a
26	chr16:82206435-82206485	Caco-2	colon:	n/a
27	chr16:82203702-82203752	NHDF-neo	bronchial:	n/a
28	chr16:82204391-82204441	HepG2	liver:	n/a
29	chr16:82204945-82204995	PrEC	prostate:	n/a
30	chr16:82191819-82191869	RPTEC	kidney:	n/a
31	chr16:82204401-82204451	U87	brain:	n/a
32	chr16:82226584-82226634	AG09319	gingival:	n/a
33	chr16:82203986-82204036	HRCEpiC	kidney:	n/a
34	chr16:82206435-82206485	AG09309	skin:	n/a
35	chr16:82203988-82204038	HMEC	breast:	n/a
36	chr16:82204167-82204217	AG09309	skin:	n/a
37	chr16:82203702-82203752	AoSMC	blood vessel:	n/a
38	chr16:82204964-82205014	SAEC	small airway:	n/a
39	chr16:82204401-82204451	SK-N-SH	brain:	n/a
40	chr16:82204046-82204096	AG04450	lung:	fetal
41	chr16:82204964-82205014	NT2-D1	testis:	n/a
42	chr16:82204401-82204451	HCM	heart:	n/a
43	chr16:82203585-82203635	SKMC	muscle:	n/a
44	chr16:82204167-82204217	U87	brain:	n/a
45	chr16:82204167-82204217	PrEC	prostate:	n/a
46	chr16:82226584-82226634	PANC-1	pancreas:	n/a
47	chr16:82204945-82204995	SK-N-SH_RA	brain:	n/a
48	chr16:82204964-82205014	ProgFib	skin:	n/a
49	chr16:82203702-82203752	K562	blood:	n/a
50	chr16:82206435-82206485	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:62608799..62609639-chr16:82203591..82204468,2	NB4	blood:
2	chr16:82203331..82204106-chr20:18488610..18489467,2	Hela-S3	cervix:
3	chr16:82185992..82189074-chr16:82193243..82196142,4	MCF-7	breast:
4	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:
5	chr15:81281954..81282793-chr16:82203347..82204123,2	Hela-S3	cervix:
6	chr16:82203572..82204072-chr6:31670450..31671114,2	Hela-S3	cervix:
7	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:
8	chr16:82189635..82192403-chr16:82201354..82205072,3	K562	blood:
9	chr16:82207842..82210813-chr16:82220344..82222897,2	MCF-7	breast:
10	chr16:82188527..82191409-chr16:82201354..82203921,2	K562	blood:
11	chr16:82199846..82201653-chr16:82203599..82206559,2	MCF-7	breast:
12	chr16:82211064..82211822-chr16:82263223..82264188,4	MCF-7	breast:
13	chr16:82187699..82189970-chr16:82194493..82196647,2	MCF-7	breast:
14	chr16:82171180..82173441-chr16:82201395..82203780,2	MCF-7	breast:
15	chr16:82215365..82217939-chr16:82221171..82222891,2	MCF-7	breast:
16	chr16:82217922..82219781-chr16:82227767..82229767,2	K562	blood:
17	chr16:82169199..82174282-chr16:82184479..82189945,7	MCF-7	breast:
18	chr16:82184093..82185777-chr16:82196617..82198190,2	K562	blood:
19	chr16:82181355..82183363-chr16:82185760..82189196,3	MCF-7	breast:
20	chr16:82217922..82219781-chr16:82227767..82229767,2	K562	blood:
21	chr16:82203390..82203935-chr19:13262639..13263471,2	Hela-S3	cervix:
22	chr16:82202997..82205982-chr16:82208138..82211154,3	K562	blood:
23	chr16:82203485..82205710-chr16:82205973..82207992,2	K562	blood:
24	chr16:82184389..82188133-chr16:82192183..82193900,3	K562	blood:
25	chr16:82184407..82186885-chr16:82187436..82189068,2	K562	blood:
26	chr16:82185928..82187822-chr16:82197235..82199870,2	MCF-7	breast:
27	chr16:82227788..82230560-chr16:82233020..82235910,2	K562	blood:
28	chr11:64901980..64902550-chr16:82203349..82203968,2	Hela-S3	cervix:
29	chr16:82169363..82172355-chr16:82189531..82191592,2	K562	blood:
30	chr16:82203331..82204094-chr7:94536560..94537463,2	HCT-116	colon:
31	chr16:82185306..82186813-chr16:82193802..82195374,2	MCF-7	breast:
32	chr16:82215365..82217939-chr16:82221171..82222891,2	MCF-7	breast:
33	chr16:82185992..82189074-chr16:82193243..82196142,4	MCF-7	breast:
34	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:
35	chr16:82192311..82195081-chr16:82198371..82200683,2	K562	blood:
36	chr16:82187699..82189970-chr16:82194493..82196647,2	MCF-7	breast:
37	chr16:82207842..82210813-chr16:82220344..82222897,2	MCF-7	breast:
38	chr16:82202012..82204954-chr16:82205071..82206681,2	MCF-7	breast:
39	chr16:82203772..82205293-chr16:82216452..82219079,2	MCF-7	breast:
40	chr16:82192311..82195081-chr16:82198371..82200683,2	K562	blood:
41	chr16:82196485..82199484-chr16:82202307..82204878,3	MCF-7	breast:
42	chr16:82181923..82184718-chr16:82200148..82202665,2	K562	blood:
43	chr16:82203527..82204190-chr2:26101329..26101957,2	HCT-116	colon:
44	chr16:82192940..82199910-chr16:82200069..82205182,12	MCF-7	breast:
45	chr16:82203368..82204098-chr18:711824..712742,2	NB4	blood:
46	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD17B2-1	chr16:82203901-82203952	ENSG00000261029.1
2	lnc-MPHOSPH6-5	chr16:82226110-82226395	NONHSAT143984
3	lnc-HSD17B2-1	chr16:82209037-82209408	ENSG00000261029.1

Variant related genes	Relation type
RN7SKP190	TF binding region
MPHOSPH6	TF binding region
ENSG00000261029	TF binding region
RN7SKP190	CpG island
MPHOSPH6	CpG island
ENSG00000261029	CpG island
ENSG00000261029	chromatin interactions
ENSG00000204427	chromatin interactions
ENSG00000143970	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000117899	chromatin interactions
ENSG00000261235	chromatin interactions
ENSG00000158528	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000132199	chromatin interactions
ENSG00000101310	chromatin interactions
ENSG00000160888	chromatin interactions
ENSG00000135698	chromatin interactions

Extended variants
information (count: 2349 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2349 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7202019	chr16:82188173-82188174	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575764989	chr16:82188175-82188176	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116475949	chr16:82188183-82188184	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551331291	chr16:82188213-82188214	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564474861	chr16:82188218-82188219	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs137931634	chr16:82188222-82188223	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2967326	chr16:82188246-82188247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530268031	chr16:82188269-82188270	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559528666	chr16:82188290-82188291	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11649427	chr16:82188337-82188338	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7202424	chr16:82188412-82188413	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76493162	chr16:82188461-82188462	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537786559	chr16:82188477-82188478	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534890522	chr16:82188534-82188535	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs9940948	chr16:82188537-82188538	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182433331	chr16:82188587-82188588	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs111540774	chr16:82188596-82188597	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs72835386	chr16:82188602-82188603	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551273919	chr16:82188627-82188628	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs187031963	chr16:82188629-82188630	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs79294049	chr16:82188647-82188648	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2967327	chr16:82188657-82188658	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs555408296	chr16:82188663-82188664	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs542831906	chr16:82188675-82188676	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573641708	chr16:82188752-82188753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs529288352	chr16:82188753-82188754	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs76334198	chr16:82188775-82188776	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs573009248	chr16:82188776-82188777	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs2911423	chr16:82188801-82188802	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs546416096	chr16:82188809-82188810	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs75689408	chr16:82188818-82188819	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs372698866	chr16:82188834-82188835	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs191922707	chr16:82188841-82188842	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs184307932	chr16:82188864-82188865	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs561761570	chr16:82188897-82188898	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs189127517	chr16:82188953-82188954	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs193234261	chr16:82188964-82188965	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563034187	chr16:82188993-82188994	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs185679947	chr16:82189044-82189045	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs376035171	chr16:82189055-82189056	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189308242	chr16:82189070-82189071	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs180947580	chr16:82189079-82189080	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs148584892	chr16:82189080-82189081	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs527595751	chr16:82189126-82189127	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs74249005	chr16:82189132-82189133	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs185511161	chr16:82189137-82189138	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs377500928	chr16:82189140-82189141	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs537878796	chr16:82189157-82189158	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs13335608	chr16:82189168-82189169	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs144055408	chr16:82189182-82189183	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:1184 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
5	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:82171200-82193400	Weak transcription	Ovary	ovary
8	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
12	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:82179400-82190000	Strong transcription	HMEC	breast
14	chr16:82179600-82188600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:82179800-82196200	Weak transcription	Fetal Heart	heart
16	chr16:82180400-82189800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr16:82180800-82195600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:82181000-82194000	Weak transcription	Pancreas	Pancrea
19	chr16:82181200-82193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:82181200-82193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:82181200-82194000	Weak transcription	Aorta	Aorta
22	chr16:82181200-82194000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:82181200-82194000	Weak transcription	Gastric	stomach
24	chr16:82181200-82194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:82181200-82195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:82181200-82196600	Weak transcription	Small Intestine	intestine
27	chr16:82181600-82194000	Weak transcription	Right Ventricle	heart
28	chr16:82181600-82194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:82181600-82195400	Weak transcription	GM12878-XiMat	blood
30	chr16:82181800-82193400	Weak transcription	Colonic Mucosa	Colon
31	chr16:82181800-82194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:82182200-82193400	Weak transcription	Fetal Thymus	thymus
33	chr16:82182400-82190800	Weak transcription	NHDF-Ad	bronchial
34	chr16:82182400-82191000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:82182800-82189400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:82183000-82188600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:82183000-82193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:82183000-82193400	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:82183000-82193400	Weak transcription	Spleen	Spleen
40	chr16:82183000-82193400	Weak transcription	HUVEC	blood vessel
41	chr16:82183000-82193800	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:82183000-82194000	Weak transcription	Brain Angular Gyrus	brain
43	chr16:82183000-82194000	Weak transcription	Esophagus	oesophagus
44	chr16:82183000-82194000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:82183200-82190800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:82183200-82190800	Weak transcription	Adipose Nuclei	Adipose
47	chr16:82183200-82193200	Weak transcription	Brain Anterior Caudate	brain
48	chr16:82183200-82194000	Weak transcription	Brain Substantia Nigra	brain
49	chr16:82183600-82189000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:82183600-82189200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links