Variant report

Variant	rs2008164
Chromosome Location	chr8:65254976-65254977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10090928	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105676	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504375	0.96[EUR][1000 genomes]
rs13257322	0.97[EUR][1000 genomes]
rs1347758	0.95[EUR][1000 genomes]
rs1438229	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837193	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899047	0.94[EUR][1000 genomes]
rs7824601	0.96[EUR][1000 genomes]
rs7840001	0.96[EUR][1000 genomes]
rs7844448	0.96[EUR][1000 genomes]
rs7846632	0.82[EUR][1000 genomes]
rs9298081	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298082	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298083	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9772893	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	esv2761224	chr8:65235506-65259631	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1830069	chr8:65235506-65263721	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1031877	chr8:65240464-65291136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1808745	chr8:65242166-65256119	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1808838	chr8:65242166-65256119	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1809447	chr8:65242166-65256119	Enhancers Strong transcription Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1812391	chr8:65242166-65256119	Strong transcription Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1809961	chr8:65242166-65268559	Weak transcription Strong transcription Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1809415	chr8:65242166-65272478	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1808102	chr8:65242198-65256379	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv6230	chr8:65242569-65273236	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1807623	chr8:65244276-65256379	Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3479381	chr8:65244307-65257316	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3479378	chr8:65244337-65257310	Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3479380	chr8:65244380-65257277	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3479379	chr8:65244383-65257241	Enhancers Strong transcription Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3479382	chr8:65244383-65257241	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv9759	chr8:65244457-65256991	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1810074	chr8:65244654-65256119	Enhancers Weak transcription Strong transcription Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
22	esv1825065	chr8:65244654-65311200	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
23	nsv515095	chr8:65244694-65256146	Weak transcription Enhancers Strong transcription Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
24	esv1805069	chr8:65245116-65256119	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
25	esv1807338	chr8:65245116-65256119	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	inside rSNPs	diseases
26	nsv982125	chr8:65245389-65256068	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
27	esv1814861	chr8:65245542-65255677	Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	diseases
28	esv1804561	chr8:65246972-65257491	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
29	esv1808535	chr8:65246984-65257503	Strong transcription Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
30	esv1808549	chr8:65246984-65257503	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
31	esv1813537	chr8:65246984-65257503	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
32	esv2421436	chr8:65246984-65257503	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
33	nsv442110	chr8:65246984-65257503	Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	diseases
34	nsv516030	chr8:65250883-65256119	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65249600-65260000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65254200-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:65254400-65255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:65254600-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:65254600-65257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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