Variant report

Variant	rs66602888
Chromosome Location	chr8:10005248-10005249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10107485	0.90[ASN][1000 genomes]
rs1160369	0.85[ASN][1000 genomes]
rs11774411	0.86[ASN][1000 genomes]
rs11783851	0.87[ASN][1000 genomes]
rs11785434	0.82[ASN][1000 genomes]
rs11785454	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12542030	0.83[ASN][1000 genomes]
rs12545469	0.87[ASN][1000 genomes]
rs12545775	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12545788	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12547884	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549943	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12674871	0.83[EUR][1000 genomes]
rs12680389	0.82[ASN][1000 genomes]
rs13249013	0.96[ASN][1000 genomes]
rs13256357	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1466555	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1484645	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1564808	0.82[ASN][1000 genomes]
rs17151142	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17151190	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151201	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155393	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1984863	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016221	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2898242	0.84[ASN][1000 genomes]
rs4841283	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6985791	0.88[EUR][1000 genomes]
rs7008407	0.86[ASN][1000 genomes]
rs7008695	0.81[ASN][1000 genomes]
rs7012601	0.86[ASN][1000 genomes]
rs7016690	0.86[ASN][1000 genomes]
rs72626643	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7830843	0.88[ASN][1000 genomes]
rs9329215	0.85[ASN][1000 genomes]
rs9644681	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9996400-10020200	Weak transcription	Pancreas	Pancrea
2	chr8:9996600-10036200	Weak transcription	Primary T cells from cord blood	blood
3	chr8:9996800-10009600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:9997000-10010200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:10001800-10005800	Enhancers	Fetal Brain Male	brain
6	chr8:10002400-10007400	Weak transcription	Brain Substantia Nigra	brain
7	chr8:10002400-10007600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:10002400-10009400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:10002600-10007400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:10002600-10009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:10002800-10007400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:10002800-10007600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:10002800-10007600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:10002800-10007600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:10002800-10007600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:10002800-10007600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:10002800-10007800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:10003000-10007400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:10003000-10007400	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:10003000-10007600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:10003400-10005600	Enhancers	Fetal Brain Female	brain
22	chr8:10003400-10026600	Weak transcription	Liver	Liver
23	chr8:10003800-10007400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:10004400-10007600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:10004800-10005400	Enhancers	Left Ventricle	heart
26	chr8:10004800-10005600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:10004800-10005600	Enhancers	Right Ventricle	heart
28	chr8:10004800-10005600	Enhancers	Spleen	Spleen
29	chr8:10004800-10005800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:10004800-10007000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:10005000-10005400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:10005000-10005400	Enhancers	Brain Germinal Matrix	brain
33	chr8:10005000-10005600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:10005000-10005600	Enhancers	Right Atrium	heart
35	chr8:10005000-10007400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:10005000-10007800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:10005000-10008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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