Variant report

Variant	rs73685145
Chromosome Location	chr8:62745124-62745125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:62745100-62745150	U87	brain:	n/a
2	chr8:62745100-62745150	AG04450	lung:	fetal
3	chr8:62745097-62745147	HIPEpiC	eye:	n/a
4	chr8:62745100-62745150	GM12891	blood:	n/a
5	chr8:62745097-62745147	PrEC	prostate:	n/a
6	chr8:62745097-62745147	HRPEpiC	eye:	n/a
7	chr8:62745100-62745150	LNCaP	prostate:	n/a
8	chr8:62745100-62745150	NT2-D1	testis:	n/a
9	chr8:62745097-62745147	NH-A	brain:	n/a
10	chr8:62745097-62745147	NHDF-neo	bronchial:	n/a
11	chr8:62745100-62745150	SAEC	small airway:	n/a
12	chr8:62745100-62745150	MCF10A-Er-Src	breast:	n/a
13	chr8:62745100-62745150	Caco-2	colon:	n/a
14	chr8:62745097-62745147	HRE	kidney:	n/a
15	chr8:62745100-62745150	HEEpiC	esophagus:	n/a
16	chr8:62745100-62745150	BJ	skin:	n/a
17	chr8:62745100-62745150	PANC-1	pancreas:	n/a
18	chr8:62745097-62745147	LNCaP	prostate:	n/a
19	chr8:62745097-62745147	ECC-1	luminal epithelium:	n/a
20	chr8:62745100-62745150	ProgFib	skin:	n/a
21	chr8:62745097-62745147	GM12878	blood:	n/a
22	chr8:62745100-62745150	SKMC	muscle:	n/a
23	chr8:62745100-62745150	GM06990	blood:	n/a
24	chr8:62745097-62745147	MCF-7	breast:	n/a
25	chr8:62745097-62745147	HAEpiC	amniotic membrane:	n/a
26	chr8:62745100-62745150	RPTEC	kidney:	n/a
27	chr8:62745097-62745147	HRCEpiC	kidney:	n/a
28	chr8:62745097-62745147	Hepatocyte	liver:	n/a
29	chr8:62745097-62745147	GM19239	blood:	n/a
30	chr8:62745097-62745147	HEK293	kidney:	embryo
31	chr8:62745097-62745147	ovcar-3	ovarian:	n/a
32	chr8:62745097-62745147	SAEC	small airway:	n/a
33	chr8:62745097-62745147	IMR90	lung:	fetal
34	chr8:62745100-62745150	HCM	heart:	n/a
35	chr8:62745100-62745150	Hela-S3	cervix:	n/a
36	chr8:62745097-62745147	SK-N-SH	brain:	n/a
37	chr8:62745100-62745150	HRCEpiC	kidney:	n/a
38	chr8:62745100-62745150	HCT-116	colon:	n/a
39	chr8:62745097-62745147	ProgFib	skin:	n/a
40	chr8:62745100-62745150	BE2_C	brain:	n/a
41	chr8:62745097-62745147	BE2_C	brain:	n/a
42	chr8:62745097-62745147	HEEpiC	esophagus:	n/a
43	chr8:62745097-62745147	HPAEpiC	pulmonary alveolar:	n/a
44	chr8:62745100-62745150	PrEC	prostate:	n/a
45	chr8:62745100-62745150	ovcar-3	ovarian:	n/a
46	chr8:62745100-62745150	SK-N-SH_RA	brain:	n/a
47	chr8:62745100-62745150	K562	blood:	n/a
48	chr8:62745100-62745150	AoSMC	blood vessel:	n/a
49	chr8:62745100-62745150	Jurkat	blood:	n/a
50	chr8:62745097-62745147	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000254119	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12544982	0.83[ASN][1000 genomes]
rs12545018	0.83[ASN][1000 genomes]
rs1948507	0.83[ASN][1000 genomes]
rs1948508	0.83[ASN][1000 genomes]
rs2350926	0.83[ASN][1000 genomes]
rs56016636	0.87[EUR][1000 genomes]
rs56125512	0.87[EUR][1000 genomes]
rs56235963	0.87[EUR][1000 genomes]
rs56741469	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56830160	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57344387	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs58080416	0.81[EUR][1000 genomes]
rs58710029	0.81[EUR][1000 genomes]
rs59120662	0.87[EUR][1000 genomes]
rs60520860	0.81[EUR][1000 genomes]
rs61568322	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507583	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62507585	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471975	0.81[EUR][1000 genomes]
rs73255147	0.81[EUR][1000 genomes]
rs73255155	0.81[EUR][1000 genomes]
rs73255157	0.81[EUR][1000 genomes]
rs73682603	0.81[EUR][1000 genomes]
rs73685132	0.87[EUR][1000 genomes]
rs73685137	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73685139	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73685148	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73685149	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73685158	0.81[EUR][1000 genomes]
rs73685159	0.81[EUR][1000 genomes]
rs7820373	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3363755	chr8:62702301-62764282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv611427	chr8:62733267-62848952	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv831338	chr8:62736394-62913048	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62739400-62750000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:62745000-62745200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:62745000-62745200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:62745000-62745400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:62745000-62745400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:62745000-62748800	Weak transcription	Psoas Muscle	Psoas

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