Variant report

Variant	rs344204
Chromosome Location	chr8:62944342-62944343
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62943835..62945926-chr8:62946749..62948814,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10096181	0.80[EUR][1000 genomes]
rs10111776	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1400499	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1516996	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1516998	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1516999	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1607124	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1607126	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168252	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180751	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850369	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966106	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs237413	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377818	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28379606	0.89[EUR][1000 genomes]
rs28400370	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28558888	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs344200	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344203	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344206	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs344207	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344209	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344210	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344219	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344220	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344230	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344231	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344232	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344233	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344234	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344236	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344238	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344240	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344241	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344242	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344251	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344252	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344254	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344270	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344272	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344273	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344274	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344281	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs344307	0.91[EUR][1000 genomes]
rs344310	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35594910	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58587861	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59496972	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60173182	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60415651	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62135	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679344	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681078	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255189	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73263080	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7817852	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821502	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833161	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs978253	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890951	chr8:62889169-62989464	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv890952	chr8:62898648-62989464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890953	chr8:62899559-62989464	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv890954	chr8:62919691-63023132	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv520442	chr8:62928715-62962071	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	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	chr8:62940800-62945600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:62940800-62946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:62943600-62944400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:62944000-62945000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:62944200-62945200	Flanking Active TSS	A549	lung

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