Variant report

Variant	nsv962218
Chromosome Location	chr16:71645202-71727606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1249)
CpG islands
(count:1343)
Chromatin interactive
region (count:95)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:71679377-71679718	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:71679476-71679723	K562	blood:	n/a	n/a
3	ARID3A	chr16:71704475-71704830	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:71700485-71701541	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:71657501-71657779	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:71704181-71704201	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:71644905-71645340	HepG2	liver:	n/a	n/a
8	ATF1	chr16:71688659-71688673	K562	blood:	n/a	n/a
9	ATF1	chr16:71717268-71717307	K562	blood:	n/a	n/a
10	ATF2	chr16:71671244-71671745	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr16:71659855-71660233	HepG2	liver:	n/a	chr16:71660046-71660055 chr16:71660041-71660050 chr16:71660124-71660132
12	BACH1	chr16:71662729-71663037	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr16:71671224-71671953	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr16:71692756-71693041	GM12878	blood:	n/a	n/a
15	BATF	chr16:71707154-71707376	GM12878	blood:	n/a	n/a
16	BCL11A	chr16:71671387-71671637	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr16:71671437-71671643	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr16:71700969-71701211	HepG2	liver:	n/a	n/a
19	BHLHE40	chr16:71704454-71704827	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:71644964-71645268	K562	blood:	n/a	n/a
21	BRCA1	chr16:71704544-71704732	HepG2	liver:	n/a	n/a
22	BRCA1	chr16:71700763-71701036	HepG2	liver:	n/a	n/a
23	CEBPB	chr16:71672939-71673107	HepG2	liver:	n/a	chr16:71673030-71673041
24	CEBPB	chr16:71700221-71700515	HepG2	liver:	n/a	chr16:71700366-71700377
25	CEBPB	chr16:71671371-71671733	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr16:71664746-71665016	MCF-7	breast:	n/a	n/a
27	CEBPB	chr16:71700725-71701093	A549	lung:	n/a	chr16:71701037-71701045
28	CEBPB	chr16:71672622-71673101	K562	blood:	n/a	chr16:71673030-71673041
29	CEBPB	chr16:71700775-71701184	HepG2	liver:	n/a	chr16:71701037-71701045
30	CEBPB	chr16:71704353-71704720	HepG2	liver:	n/a	n/a
31	CEBPB	chr16:71673006-71673067	IMR90	lung:	n/a	chr16:71673030-71673041
32	CEBPB	chr16:71671371-71671739	IMR90	lung:	n/a	n/a
33	CEBPD	chr16:71704527-71704740	HepG2	liver:	n/a	n/a
34	CEBPD	chr16:71704500-71704749	HepG2	liver:	n/a	n/a
35	CEBPZ	chr16:71704561-71704826	HepG2	liver:	n/a	n/a
36	CHD1	chr16:71660207-71660850	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr16:71679505-71679626	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr16:71661834-71661835	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr16:71644930-71645255	HepG2	liver:	n/a	n/a
40	CHD2	chr16:71659838-71660253	H1-hESC	embryonic stem cell:	n/a	chr16:71660044-71660054
41	CHD2	chr16:71644920-71645221	K562	blood:	n/a	n/a
42	CHD2	chr16:71704526-71704728	HepG2	liver:	n/a	n/a
43	CHD2	chr16:71644851-71645250	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr16:71644874-71645251	GM12878	blood:	n/a	n/a
45	CREB1	chr16:71704351-71704984	HepG2	liver:	n/a	n/a
46	CREB1	chr16:71704359-71704908	HepG2	liver:	n/a	n/a
47	CREB1	chr16:71644958-71645316	A549	lung:	n/a	n/a
48	CTCF	chr16:71661729-71661763	MCF-7	breast:	n/a	n/a
49	CTCF	chr16:71679239-71680066	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr16:71659870-71660086	MCF-7	breast:	n/a	chr16:71659979-71659992

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71660049-71660099	HEK293	kidney:	embryo
2	chr16:71660049-71660099	HEK293	kidney:	embryo
3	chr16:71657362-71657412	U87	brain:	n/a
4	chr16:71658155-71658205	HNPCEpiC	eye:	n/a
5	chr16:71660044-71660094	SKMC	muscle:	n/a
6	chr16:71716385-71716435	GM06990	blood:	n/a
7	chr16:71660734-71660784	SKMC	muscle:	n/a
8	chr16:71660103-71660153	HL-60	blood:	n/a
9	chr16:71674507-71674557	HCT-116	colon:	n/a
10	chr16:71660044-71660094	HCPEpiC	choroid plexus:	n/a
11	chr16:71674626-71674676	Hela-S3	cervix:	n/a
12	chr16:71716848-71716898	BJ	skin:	n/a
13	chr16:71660734-71660784	HepG2	liver:	n/a
14	chr16:71660055-71660105	SK-N-SH	brain:	n/a
15	chr16:71657362-71657412	HCPEpiC	choroid plexus:	n/a
16	chr16:71660908-71660958	HUVEC	blood vessel:	n/a
17	chr16:71660055-71660105	HCF	heart:	n/a
18	chr16:71674938-71674988	HEEpiC	esophagus:	n/a
19	chr16:71658155-71658205	K562	blood:	n/a
20	chr16:71674626-71674676	HIPEpiC	eye:	n/a
21	chr16:71682825-71682875	HEEpiC	esophagus:	n/a
22	chr16:71660463-71660513	AG04449	skin:	fetal
23	chr16:71657362-71657412	Caco-2	colon:	n/a
24	chr16:71674938-71674988	AoSMC	blood vessel:	n/a
25	chr16:71660463-71660513	HCF	heart:	n/a
26	chr16:71674626-71674676	GM06990	blood:	n/a
27	chr16:71716848-71716898	K562	blood:	n/a
28	chr16:71659830-71659880	AG04450	lung:	fetal
29	chr16:71657362-71657412	AoSMC	blood vessel:	n/a
30	chr16:71716848-71716898	RPTEC	kidney:	n/a
31	chr16:71658155-71658205	AG04450	lung:	fetal
32	chr16:71682825-71682875	HRE	kidney:	n/a
33	chr16:71660113-71660163	PrEC	prostate:	n/a
34	chr16:71660113-71660163	Jurkat	blood:	n/a
35	chr16:71674507-71674557	MCF-7	breast:	n/a
36	chr16:71660103-71660153	NT2-D1	testis:	n/a
37	chr16:71660113-71660163	GM12878	blood:	n/a
38	chr16:71671122-71671172	AG09319	gingival:	n/a
39	chr16:71674938-71674988	ECC-1	luminal epithelium:	n/a
40	chr16:71660049-71660099	NHBE	bronchial:	n/a
41	chr16:71660049-71660099	A549	lung:	n/a
42	chr16:71716385-71716435	HPAEpiC	pulmonary alveolar:	n/a
43	chr16:71658155-71658205	ECC-1	luminal epithelium:	n/a
44	chr16:71674626-71674676	GM12878	blood:	n/a
45	chr16:71716385-71716435	NH-A	brain:	n/a
46	chr16:71671122-71671172	HPAEpiC	pulmonary alveolar:	n/a
47	chr16:71674938-71674988	NT2-D1	testis:	n/a
48	chr16:71680526-71680576	HEK293	kidney:	embryo
49	chr16:71682825-71682875	ProgFib	skin:	n/a
50	chr16:71716848-71716898	HNPCEpiC	eye:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:71706191..71708726-chr16:71709826..71711472,2	K562	blood:
2	chr16:71562630..71564970-chr16:71679393..71680971,2	K562	blood:
3	chr16:71645006..71646699-chr16:71648502..71650487,2	MCF-7	breast:
4	chr16:71645072..71647361-chr16:71660009..71661728,2	MCF-7	breast:
5	chr16:71446366..71447179-chr16:71644599..71645567,3	K562	blood:
6	chr16:71572964..71574516-chr16:71664027..71666330,2	MCF-7	breast:
7	chr16:71713691..71715529-chr16:71719681..71722397,3	MCF-7	breast:
8	chr16:71663311..71664033-chr16:71679280..71679891,2	MCF-7	breast:
9	chr16:71697444..71699494-chr16:71756866..71759011,2	MCF-7	breast:
10	chr16:71705905..71707823-chr16:71709062..71711158,2	MCF-7	breast:
11	chr16:71706191..71708726-chr16:71709826..71711472,2	K562	blood:
12	chr16:71598333..71600187-chr16:71678288..71680430,2	MCF-7	breast:
13	chr16:71686341..71688675-chr16:71691645..71694009,2	K562	blood:
14	chr16:71597451..71600395-chr16:71660172..71663639,3	MCF-7	breast:
15	chr16:71694547..71697173-chr16:71755401..71757599,2	MCF-7	breast:
16	chr16:71658239..71660520-chr16:71674184..71677101,3	MCF-7	breast:
17	chr16:71644466..71645406-chr16:71995435..71996080,2	K562	blood:
18	chr16:71686286..71688499-chr16:71756358..71758868,2	MCF-7	breast:
19	chr16:71722834..71724416-chr16:71742268..71745053,2	MCF-7	breast:
20	chr16:71639360..71642316-chr16:71645937..71648287,2	K562	blood:
21	chr16:71682067..71684821-chr16:71701301..71704672,3	MCF-7	breast:
22	chr16:71684183..71687059-chr16:71688716..71691212,2	K562	blood:
23	chr16:71661954..71664538-chr16:71676848..71678579,2	MCF-7	breast:
24	chr16:71704411..71706354-chr16:71713659..71716566,2	K562	blood:
25	chr16:71645006..71646699-chr16:71648502..71650487,2	MCF-7	breast:
26	chr16:71598829..71599535-chr16:71644892..71645491,2	MCF-7	breast:
27	chr16:71668341..71670182-chr16:71677520..71679473,2	MCF-7	breast:
28	chr16:71567921..71569617-chr16:71645011..71646646,2	MCF-7	breast:
29	chr16:71659378..71661958-chr16:71682057..71684195,2	MCF-7	breast:
30	chr16:71711063..71712806-chr16:71716837..71718394,2	MCF-7	breast:
31	chr16:71678612..71682239-chr16:71682630..71684889,3	K562	blood:
32	chr16:71659512..71660044-chr16:71679141..71679971,2	MCF-7	breast:
33	chr16:71670585..71672271-chr16:71674345..71676110,2	MCF-7	breast:
34	chr16:71724424..71728280-chr16:71728369..71732194,4	MCF-7	breast:
35	chr16:71596573..71599590-chr16:71642907..71646466,3	MCF-7	breast:
36	chr16:71709485..71711612-chr16:71713076..71714701,2	K562	blood:
37	chr16:71644641..71645674-chr16:71679043..71680015,5	MCF-7	breast:
38	chr16:71652939..71655689-chr16:71657502..71661086,3	K562	blood:
39	chr16:71677217..71680123-chr16:71756735..71758900,2	K562	blood:
40	chr16:71682067..71684821-chr16:71701301..71704672,3	MCF-7	breast:
41	chr16:71709382..71710975-chr16:71720464..71722276,2	K562	blood:
42	chr16:71711675..71714300-chr16:71757117..71759579,2	MCF-7	breast:
43	chr16:71659584..71660267-chr16:71679154..71679963,3	MCF-7	breast:
44	chr16:71686341..71688675-chr16:71691645..71694009,2	K562	blood:
45	chr16:71705905..71707823-chr16:71709062..71711158,2	MCF-7	breast:
46	chr16:71716071..71718546-chr16:71755995..71758627,2	MCF-7	breast:
47	chr16:71668579..71670328-chr16:71676094..71677931,2	MCF-7	breast:
48	chr16:71659983..71661516-chr16:71697596..71700523,2	MCF-7	breast:
49	chr16:71711063..71712806-chr16:71716837..71718394,2	MCF-7	breast:
50	chr16:71713691..71715529-chr16:71719681..71722397,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHLPP2-1	chr16:71657611-71657856	ENSG00000260593.1
2	lnc-PHLPP2-1	chr16:71660501-71660719	ENSG00000260593.1
3	lnc-MARVELD3-1	chr16:71697809-71698115	ENSG00000260185.1
4	lnc-MARVELD3-5	chr16:71671738-71673236	NONHSAT143497
5	lnc-MARVELD3-5	chr16:71675119-71676017	NONHSAT143497
6	lnc-MARVELD3-1	chr16:71688930-71689028	ENSG00000260185.1

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PHLPP2	hsa-miR-93-5p	chr16:71681911-71681933
2	PHLPP2	hsa-miR-32-5p	chr16:71679009-71679032
3	PHLPP2	hsa-miR-32-5p	chr16:71679654-71679676
4	PHLPP2	hsa-miR-32-5p	chr16:71679015-71679009
5	PHLPP2	hsa-miR-32-5p	chr16:71679660-71679653
6	PHLPP2	hsa-miR-26b-5p	chr16:71679670-71679691
7	PHLPP2	hsa-miR-421	chr16:71711739-71711758
8	PHLPP2	hsa-miR-93-5p	chr16:71681917-71681911

Variant related genes	Relation type
ENSG00000260593	TF binding region
ENSG00000260185	TF binding region
MARVELD3	TF binding region
RNU6-208P	TF binding region
PHLPP2	TF binding region
ENSG00000260593	CpG island
ENSG00000260185	CpG island
MARVELD3	CpG island
RNU6-208P	CpG island
PHLPP2	CpG island
ENSG00000102984	chromatin interactions
ENSG00000040199	chromatin interactions
ENSG00000260886	chromatin interactions
ENSG00000252339	chromatin interactions
ENSG00000175806	chromatin interactions
ENSG00000035403	chromatin interactions
ENSG00000182149	chromatin interactions
ENSG00000260593	chromatin interactions
ENSG00000157429	chromatin interactions
ENSG00000260185	chromatin interactions
ENSG00000140832	chromatin interactions
ENSG00000199301	chromatin interactions
ENSG00000261513	chromatin interactions

Extended variants
information (count: 3408 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3408 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528269181	chr16:71645220-71645221	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs555318760	chr16:71645237-71645238	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs573790818	chr16:71645244-71645245	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs12927768	chr16:71645263-71645264	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs9302626	chr16:71645283-71645284	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148505017	chr16:71645296-71645297	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs563683699	chr16:71645326-71645327	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs112290592	chr16:71645334-71645335	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs538284282	chr16:71645370-71645371	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs142840375	chr16:71645423-71645424	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs564452870	chr16:71645433-71645434	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs190883593	chr16:71645442-71645443	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs543889215	chr16:71645476-71645477	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs58577972	chr16:71645514-71645515	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529492228	chr16:71645542-71645543	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs374860898	chr16:71645558-71645559	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs368417651	chr16:71645561-71645562	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs56209933	chr16:71645600-71645601	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11866205	chr16:71645601-71645602	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112783479	chr16:71645631-71645632	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs11643690	chr16:71645638-71645639	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565183196	chr16:71645648-71645649	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs111566156	chr16:71645650-71645651	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs7205340	chr16:71645670-71645671	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs547561103	chr16:71645700-71645701	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs555446497	chr16:71645703-71645704	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs12325579	chr16:71645738-71645739	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs567223875	chr16:71645748-71645749	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs560972682	chr16:71645772-71645773	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs534835667	chr16:71645778-71645779	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs553189444	chr16:71645811-71645812	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs11397301	chr16:71645822-71645823	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs397723601	chr16:71645832-71645833	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs185988082	chr16:71645845-71645846	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs529777977	chr16:71645896-71645897	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs113683447	chr16:71645901-71645902	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs7206039	chr16:71645914-71645915	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545319423	chr16:71645931-71645932	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs558225536	chr16:71645937-71645938	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs375472446	chr16:71645940-71645941	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs543404891	chr16:71645953-71645954	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs117904177	chr16:71645962-71645963	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs529334674	chr16:71645992-71645993	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs190752546	chr16:71646031-71646032	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs559496316	chr16:71646057-71646058	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs371654191	chr16:71646061-71646062	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs551647343	chr16:71646066-71646067	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs201152943	chr16:71646072-71646073	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs377506899	chr16:71646078-71646079	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs113277191	chr16:71646079-71646080	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2335 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71642000-71645400	Enhancers	GM12878-XiMat	blood
2	chr16:71644200-71647600	Weak transcription	Right Atrium	heart
3	chr16:71644400-71645400	Enhancers	Primary B cells from cord blood	blood
4	chr16:71644400-71645600	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:71644800-71645400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr16:71644800-71645400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71644800-71645400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:71644800-71645400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:71644800-71645400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr16:71644800-71645400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr16:71644800-71645400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:71644800-71645400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr16:71644800-71645400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:71644800-71645400	Flanking Active TSS	Liver	Liver
15	chr16:71644800-71645400	Active TSS	Brain Hippocampus Middle	brain
16	chr16:71644800-71645400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:71644800-71645400	Enhancers	Brain Substantia Nigra	brain
18	chr16:71644800-71645400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr16:71644800-71645400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:71644800-71645400	Enhancers	Fetal Thymus	thymus
21	chr16:71644800-71645400	Enhancers	Pancreas	Pancrea
22	chr16:71644800-71645400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:71644800-71645400	Bivalent Enhancer	Dnd41	blood
24	chr16:71644800-71645400	Enhancers	NHDF-Ad	bronchial
25	chr16:71644800-71645600	Flanking Active TSS	HepG2	liver
26	chr16:71644800-71645800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:71644800-71645800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:71644800-71646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr16:71645000-71645400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr16:71645000-71645400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:71645000-71645400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr16:71645000-71645400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:71645000-71645400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:71645000-71645400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:71645000-71645400	Active TSS	A549	lung
36	chr16:71645000-71645800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:71645200-71645400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr16:71645200-71645400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:71645200-71645400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:71645200-71645400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr16:71645200-71645400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:71645200-71645400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr16:71645200-71645400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr16:71645200-71645400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr16:71645200-71645400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
46	chr16:71645200-71645400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr16:71645200-71645400	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr16:71645200-71645400	Bivalent Enhancer	Left Ventricle	heart
49	chr16:71645200-71645400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr16:71645200-71645400	Flanking Active TSS	Osteobl	bone

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