Variant report

Variant	rs2409623
Chromosome Location	chr8:10054775-10054776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10093457	0.88[EUR][1000 genomes]
rs10097315	0.80[AMR][1000 genomes]
rs10104463	0.85[EUR][1000 genomes]
rs10283047	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249973	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11777161	0.81[ASN][1000 genomes]
rs11787363	0.83[ASN][1000 genomes]
rs1484648	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17151318	0.87[AMR][1000 genomes]
rs17748464	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1905633	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1905634	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28660563	0.80[AMR][1000 genomes]
rs28701812	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2898240	0.83[AMR][1000 genomes]
rs4448276	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60032918	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60999585	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62491573	0.83[AMR][1000 genomes]
rs62491574	0.85[AMR][1000 genomes]
rs6601420	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6981758	0.87[AMR][1000 genomes]
rs6982806	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6996281	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997464	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7004224	0.83[AMR][1000 genomes]
rs7006628	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7009475	0.81[ASN][1000 genomes]
rs7011004	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7011821	0.80[ASN][1000 genomes]
rs7820236	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7822181	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7829478	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842065	0.84[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10050000-10057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:10050000-10068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:10050400-10055000	Weak transcription	HSMMtube	muscle
4	chr8:10050400-10058000	Weak transcription	Aorta	Aorta
5	chr8:10050600-10054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:10050600-10055000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:10051600-10058400	Enhancers	Fetal Brain Male	brain
8	chr8:10052200-10056200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:10052400-10058000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10053600-10062400	Weak transcription	Pancreas	Pancrea
11	chr8:10053600-10065000	Weak transcription	Brain Germinal Matrix	brain
12	chr8:10053800-10054800	Weak transcription	Brain Substantia Nigra	brain
13	chr8:10053800-10055000	Weak transcription	Left Ventricle	heart
14	chr8:10053800-10062400	Weak transcription	Liver	Liver
15	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
16	chr8:10054000-10055000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10054000-10059200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:10054000-10064200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:10054400-10055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:10054600-10054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:10054600-10055200	Enhancers	Fetal Brain Female	brain
22	chr8:10054600-10055400	Enhancers	HMEC	breast
23	chr8:10054600-10055400	Enhancers	NHEK	skin
24	chr8:10054600-10056400	Enhancers	Fetal Heart	heart

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