Variant report

Variant	rs10505169
Chromosome Location	chr8:113655596-113655597
allele	C/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:0)
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	chr8:113655561-113655611	HEK293	kidney:	embryo
2	chr8:113655561-113655611	HCM	heart:	n/a
3	chr8:113655561-113655611	PFSK-1	brain:	n/a
4	chr8:113655561-113655611	RPTEC	kidney:	n/a
5	chr8:113655561-113655611	CMK	blood:	n/a
6	chr8:113655561-113655611	NH-A	brain:	n/a
7	chr8:113655561-113655611	HEEpiC	esophagus:	n/a
8	chr8:113655561-113655611	NB4	blood:	n/a
9	chr8:113655561-113655611	Hela-S3	cervix:	n/a
10	chr8:113655561-113655611	GM19239	blood:	n/a
11	chr8:113655561-113655611	AG09309	skin:	n/a
12	chr8:113655561-113655611	SK-N-SH	brain:	n/a
13	chr8:113655561-113655611	LNCaP	prostate:	n/a
14	chr8:113655561-113655611	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:113655561-113655611	NT2-D1	testis:	n/a
16	chr8:113655561-113655611	PrEC	prostate:	n/a
17	chr8:113655561-113655611	MCF10A-Er-Src	breast:	n/a
18	chr8:113655561-113655611	SK-N-SH_RA	brain:	n/a
19	chr8:113655561-113655611	BJ	skin:	n/a
20	chr8:113655561-113655611	HepG2	liver:	n/a
21	chr8:113655561-113655611	HCT-116	colon:	n/a
22	chr8:113655561-113655611	SAEC	small airway:	n/a
23	chr8:113655561-113655611	AG04449	skin:	fetal
24	chr8:113655561-113655611	GM06990	blood:	n/a
25	chr8:113655561-113655611	Hepatocyte	liver:	n/a
26	chr8:113655561-113655611	HUVEC	blood vessel:	n/a
27	chr8:113655561-113655611	HCF	heart:	n/a
28	chr8:113655561-113655611	HCPEpiC	choroid plexus:	n/a
29	chr8:113655561-113655611	T-47D	breast:	n/a
30	chr8:113655561-113655611	HRE	kidney:	n/a
31	chr8:113655561-113655611	ProgFib	skin:	n/a
32	chr8:113655561-113655611	GM12891	blood:	n/a
33	chr8:113655561-113655611	HNPCEpiC	eye:	n/a
34	chr8:113655561-113655611	Caco-2	colon:	n/a
35	chr8:113655561-113655611	HL-60	blood:	n/a
36	chr8:113655561-113655611	SK-N-MC	brain:	n/a
37	chr8:113655561-113655611	AG10803	skin:	n/a
38	chr8:113655561-113655611	Jurkat	blood:	n/a
39	chr8:113655561-113655611	AG04450	lung:	fetal
40	chr8:113655561-113655611	AoSMC	blood vessel:	n/a
41	chr8:113655561-113655611	BE2_C	brain:	n/a
42	chr8:113655561-113655611	MCF-7	breast:	n/a
43	chr8:113655561-113655611	PANC-1	pancreas:	n/a
44	chr8:113655561-113655611	A549	lung:	n/a
45	chr8:113655561-113655611	K562	blood:	n/a
46	chr8:113655561-113655611	GM12878	blood:	n/a
47	chr8:113655561-113655611	ovcar-3	ovarian:	n/a
48	chr8:113655561-113655611	HRPEpiC	eye:	n/a
49	chr8:113655561-113655611	NHDF-neo	bronchial:	n/a
50	chr8:113655561-113655611	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
MIR2053	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10092054	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10105493	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1019603	0.90[MEX][hapmap]
rs10505168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955632	0.90[MEX][hapmap]
rs12676687	0.90[MEX][hapmap]
rs12679365	0.81[CEU][hapmap]
rs16883931	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884034	0.90[MEX][hapmap]
rs16884046	0.90[MEX][hapmap]
rs2113664	0.85[MEX][hapmap]
rs4263796	0.85[MEX][hapmap]
rs4272409	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4486236	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4633091	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4876293	0.90[MEX][hapmap]
rs56859083	0.82[AMR][1000 genomes]
rs6415460	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6415461	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469430	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469431	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469439	0.90[MEX][hapmap]
rs6469440	0.85[MEX][hapmap]
rs67838088	0.82[AMR][1000 genomes]
rs7011084	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7813288	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7822477	0.90[MEX][hapmap]
rs7826958	0.90[MEX][hapmap]
rs7834987	0.89[MEX][hapmap]
rs7837037	0.82[AMR][1000 genomes]
rs9643075	0.90[MEX][hapmap]
rs9650048	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a
7	nsv891325	chr8:113655596-113681944	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113629200-113680600	Weak transcription	NHEK	skin
2	chr8:113629400-113661800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:113636200-113663600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:113636800-113680400	Weak transcription	HMEC	breast

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