Variant report

Variant	rs518149
Chromosome Location	chr1:197188664-197188665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197170132..197172139-chr1:197185783..197189433,4	K562	blood:
2	chr1:197170057..197173332-chr1:197185473..197188777,4	K562	blood:

Variant related genes	Relation type
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10429911	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10732295	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10732296	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10754219	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10801593	0.86[EUR][1000 genomes]
rs10801594	0.86[EUR][1000 genomes]
rs1115247	0.87[CEU][hapmap]
rs12677	0.87[CEU][hapmap]
rs1332662	0.87[CEU][hapmap]
rs1332663	0.87[CEU][hapmap]
rs1412631	0.87[CEU][hapmap]
rs1412632	0.87[CEU][hapmap]
rs1412634	0.87[CEU][hapmap]
rs1415214	0.81[YRI][hapmap]
rs1415217	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1556763	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1571964	0.87[CEU][hapmap]
rs1764622	0.82[YRI][hapmap]
rs1764623	0.88[YRI][hapmap]
rs1764629	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1764786	0.84[YRI][hapmap]
rs1764800	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2026429	0.87[CEU][hapmap]
rs2151134	1.00[CEU][hapmap]
rs2786114	0.81[EUR][1000 genomes]
rs4244141	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4342879	1.00[CEU][hapmap]
rs4350226	1.00[CEU][hapmap]
rs476390	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs482526	0.85[YRI][hapmap]
rs4915337	0.87[CEU][hapmap]
rs4915378	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4915379	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs5029273	0.86[EUR][1000 genomes]
rs510135	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs550098	0.88[YRI][hapmap]
rs552708	0.96[AMR][1000 genomes]
rs568757	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs570845	0.86[YRI][hapmap]
rs571106	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs580067	0.82[YRI][hapmap]
rs615647	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616675	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6428390	0.89[EUR][1000 genomes]
rs643025	0.88[YRI][hapmap]
rs658409	0.80[YRI][hapmap]
rs6656448	1.00[CEU][hapmap]
rs6656858	0.87[CEU][hapmap]
rs6677082	0.87[CEU][hapmap]
rs6678066	0.91[EUR][1000 genomes]
rs668590	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6703400	0.87[CEU][hapmap]
rs7513826	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7520503	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7523013	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7534353	0.87[CEU][hapmap]
rs7542397	0.87[CEU][hapmap]
rs7554802	0.84[EUR][1000 genomes]
rs7554890	0.86[EUR][1000 genomes]
rs7554995	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs877897	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv945556	chr1:197185741-197190908	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:197188600-197189200	Enhancers	Dnd41	blood

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