Variant report

Variant	rs4872565
Chromosome Location	chr8:46869806-46869807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11136181	0.97[AFR][1000 genomes]
rs11136210	0.85[AMR][1000 genomes]
rs11136213	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11136214	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11136219	0.83[AFR][1000 genomes]
rs11776629	0.82[AMR][1000 genomes]
rs11776913	0.85[AMR][1000 genomes]
rs11783264	0.81[AMR][1000 genomes]
rs11785812	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12550231	0.91[AFR][1000 genomes]
rs12676202	0.81[AMR][1000 genomes]
rs12678983	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12680749	0.85[AMR][1000 genomes]
rs12681258	0.82[AMR][1000 genomes]
rs13256139	0.82[AMR][1000 genomes]
rs13257202	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13264613	0.83[AMR][1000 genomes]
rs13270532	0.84[AMR][1000 genomes]
rs13278440	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1608733	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1917435	0.81[AMR][1000 genomes]
rs4509329	0.81[AMR][1000 genomes]
rs4872560	0.81[AMR][1000 genomes]
rs4872742	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611222	chr8:46839108-46886735	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv611223	chr8:46839108-46902917	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv611224	chr8:46840092-46902917	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv611226	chr8:46842136-46886735	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3480442	chr8:46845338-46888077	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3480443	chr8:46845338-46888077	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1026441	chr8:46847522-46912015	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv1031442	chr8:46847522-46927075	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1018446	chr8:46847522-46933024	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1034986	chr8:46847522-46936604	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv1033056	chr8:46847522-46954695	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	nsv1017900	chr8:46847522-47024380	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1028273	chr8:46847522-47063432	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1022441	chr8:46847522-47175405	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1020385	chr8:46847522-47199227	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv1026941	chr8:46847522-47203990	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv1031996	chr8:46847522-47361594	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv1018413	chr8:46847522-47436605	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1030943	chr8:46847522-47517000	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv1031244	chr8:46847522-47735165	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1032451	chr8:46847522-47743250	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	esv2761184	chr8:46847534-47743262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv428199	chr8:46868542-47280620	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46869000-46873400	Weak transcription	Hela-S3	cervix
2	chr8:46869000-46875400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:46869000-46875600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:46869000-46875600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:46869000-46875600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:46869000-46875600	Weak transcription	Brain Substantia Nigra	brain
7	chr8:46869000-46875600	Weak transcription	Fetal Heart	heart
8	chr8:46869000-46875600	Weak transcription	Left Ventricle	heart
9	chr8:46869000-46875600	Weak transcription	Psoas Muscle	Psoas
10	chr8:46869000-46875600	Weak transcription	Right Atrium	heart
11	chr8:46869000-46875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:46869000-46875600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:46869000-46875600	Weak transcription	Stomach Mucosa	stomach
14	chr8:46869000-46875600	Weak transcription	GM12878-XiMat	blood
15	chr8:46869000-46875600	Weak transcription	HSMMtube	muscle
16	chr8:46869000-46875600	Weak transcription	NH-A	brain
17	chr8:46869000-46875600	Weak transcription	NHLF	lung
18	chr8:46869000-46878400	Weak transcription	Colonic Mucosa	Colon
19	chr8:46869000-46882400	Weak transcription	K562	blood
20	chr8:46869000-46882400	Weak transcription	Osteobl	bone
21	chr8:46869200-46872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:46869200-46875600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:46869200-46875600	Weak transcription	A549	lung
24	chr8:46869200-46882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:46869400-46875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:46869400-46875600	Weak transcription	HUVEC	blood vessel

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