Variant report

Variant	rs72649135
Chromosome Location	chr8:58054757-58054758
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: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	chr8:58054756-58054806	IMR90	lung:	fetal
2	chr8:58054756-58054806	Hepatocyte	liver:	n/a
3	chr8:58054756-58054806	AG04450	lung:	fetal
4	chr8:58054756-58054806	HAEpiC	amniotic membrane:	n/a
5	chr8:58054756-58054806	ovcar-3	ovarian:	n/a
6	chr8:58054756-58054806	HIPEpiC	eye:	n/a
7	chr8:58054756-58054806	HCF	heart:	n/a
8	chr8:58054756-58054806	HL-60	blood:	n/a
9	chr8:58054756-58054806	NB4	blood:	n/a
10	chr8:58054756-58054806	NHBE	bronchial:	n/a
11	chr8:58054756-58054806	BJ	skin:	n/a
12	chr8:58054756-58054806	HRCEpiC	kidney:	n/a
13	chr8:58054756-58054806	HMEC	breast:	n/a
14	chr8:58054756-58054806	AG09309	skin:	n/a
15	chr8:58054756-58054806	AG04449	skin:	fetal
16	chr8:58054756-58054806	AoSMC	blood vessel:	n/a
17	chr8:58054756-58054806	PFSK-1	brain:	n/a
18	chr8:58054756-58054806	LNCaP	prostate:	n/a
19	chr8:58054756-58054806	AG10803	skin:	n/a
20	chr8:58054756-58054806	SKMC	muscle:	n/a
21	chr8:58054756-58054806	PrEC	prostate:	n/a
22	chr8:58054756-58054806	NH-A	brain:	n/a
23	chr8:58054756-58054806	SAEC	small airway:	n/a
24	chr8:58054756-58054806	GM12892	blood:	n/a
25	chr8:58054756-58054806	HUVEC	blood vessel:	n/a
26	chr8:58054756-58054806	U87	brain:	n/a
27	chr8:58054756-58054806	HRE	kidney:	n/a
28	chr8:58054756-58054806	GM19239	blood:	n/a
29	chr8:58054756-58054806	ECC-1	luminal epithelium:	n/a
30	chr8:58054756-58054806	BE2_C	brain:	n/a
31	chr8:58054756-58054806	Jurkat	blood:	n/a
32	chr8:58054756-58054806	GM12891	blood:	n/a
33	chr8:58054756-58054806	HNPCEpiC	eye:	n/a
34	chr8:58054756-58054806	A549	lung:	n/a
35	chr8:58054756-58054806	NT2-D1	testis:	n/a
36	chr8:58054756-58054806	MCF10A-Er-Src	breast:	n/a
37	chr8:58054756-58054806	GM12878	blood:	n/a
38	chr8:58054756-58054806	Caco-2	colon:	n/a
39	chr8:58054756-58054806	Hela-S3	cervix:	n/a
40	chr8:58054756-58054806	RPTEC	kidney:	n/a
41	chr8:58054756-58054806	SK-N-SH	brain:	n/a
42	chr8:58054756-58054806	H1-hESC	embryonic stem cell:	embryo
43	chr8:58054756-58054806	SK-N-SH_RA	brain:	n/a
44	chr8:58054756-58054806	HCT-116	colon:	n/a
45	chr8:58054756-58054806	HCPEpiC	choroid plexus:	n/a
46	chr8:58054756-58054806	GM06990	blood:	n/a
47	chr8:58054756-58054806	HEK293	kidney:	embryo
48	chr8:58054756-58054806	HCM	heart:	n/a
49	chr8:58054756-58054806	SK-N-MC	brain:	n/a
50	chr8:58054756-58054806	T-47D	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000253301	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10086384	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59490468	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7009316	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013450	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv890933	chr8:58005923-58084006	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv890934	chr8:58037522-58112053	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv890935	chr8:58038406-58114743	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58054600-58055000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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