Variant report

Variant	rs74020085
Chromosome Location	chr16:59789069-59789070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:59789030-59789080	AG04450	lung:	fetal
2	chr16:59789030-59789080	IMR90	lung:	fetal
3	chr16:59789030-59789080	H1-hESC	embryonic stem cell:	embryo
4	chr16:59789030-59789080	HMEC	breast:	n/a
5	chr16:59789030-59789080	HCF	heart:	n/a
6	chr16:59789030-59789080	SK-N-SH	brain:	n/a
7	chr16:59789030-59789080	NH-A	brain:	n/a
8	chr16:59789030-59789080	Hela-S3	cervix:	n/a
9	chr16:59789030-59789080	HCM	heart:	n/a
10	chr16:59789030-59789080	HPAEpiC	pulmonary alveolar:	n/a
11	chr16:59789030-59789080	SAEC	small airway:	n/a
12	chr16:59789030-59789080	Jurkat	blood:	n/a
13	chr16:59789030-59789080	AG09319	gingival:	n/a
14	chr16:59789030-59789080	HEK293	kidney:	embryo
15	chr16:59789030-59789080	BE2_C	brain:	n/a
16	chr16:59789030-59789080	LNCaP	prostate:	n/a
17	chr16:59789030-59789080	Hepatocyte	liver:	n/a
18	chr16:59789030-59789080	GM12878	blood:	n/a
19	chr16:59789030-59789080	T-47D	breast:	n/a
20	chr16:59789030-59789080	ovcar-3	ovarian:	n/a
21	chr16:59789030-59789080	NHBE	bronchial:	n/a
22	chr16:59789030-59789080	HNPCEpiC	eye:	n/a
23	chr16:59789030-59789080	HIPEpiC	eye:	n/a
24	chr16:59789030-59789080	AoSMC	blood vessel:	n/a
25	chr16:59789030-59789080	GM12891	blood:	n/a
26	chr16:59789030-59789080	MCF-7	breast:	n/a
27	chr16:59789030-59789080	AG09309	skin:	n/a
28	chr16:59789030-59789080	GM12892	blood:	n/a
29	chr16:59789030-59789080	MCF10A-Er-Src	breast:	n/a
30	chr16:59789030-59789080	HepG2	liver:	n/a
31	chr16:59789030-59789080	GM06990	blood:	n/a
32	chr16:59789030-59789080	SK-N-SH_RA	brain:	n/a
33	chr16:59789030-59789080	HCPEpiC	choroid plexus:	n/a
34	chr16:59789030-59789080	AG04449	skin:	fetal
35	chr16:59789030-59789080	HEEpiC	esophagus:	n/a
36	chr16:59789030-59789080	HRE	kidney:	n/a
37	chr16:59789030-59789080	A549	lung:	n/a
38	chr16:59789030-59789080	PANC-1	pancreas:	n/a
39	chr16:59789030-59789080	HAEpiC	amniotic membrane:	n/a
40	chr16:59789030-59789080	K562	blood:	n/a
41	chr16:59789030-59789080	RPTEC	kidney:	n/a
42	chr16:59789030-59789080	NHDF-neo	bronchial:	n/a
43	chr16:59789030-59789080	NB4	blood:	n/a
44	chr16:59789030-59789080	HUVEC	blood vessel:	n/a
45	chr16:59789030-59789080	AG10803	skin:	n/a
46	chr16:59789030-59789080	CMK	blood:	n/a
47	chr16:59789030-59789080	SKMC	muscle:	n/a
48	chr16:59789030-59789080	BJ	skin:	n/a
49	chr16:59789030-59789080	HL-60	blood:	n/a
50	chr16:59789030-59789080	HRPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-105C20.2.1-5	chr16:59788045-59789095	NONHSAT142893

No data

Variant related genes	Relation type
ENSG00000260240	CpG island
APOOP5	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2289826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743707	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3743708	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56004515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56863248	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59379559	0.87[AMR][1000 genomes]
rs59990838	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60839697	0.94[ASN][1000 genomes]
rs60942290	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73558542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73558553	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73558555	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73563526	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73563541	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73563542	0.83[AMR][1000 genomes]
rs74020048	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74020086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74020087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906747	chr16:59385832-60172030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv9451	chr16:59635240-60032841	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2422221	chr16:59638102-59851643	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv906749	chr16:59786020-59877306	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59788200-59811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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