Variant report

Variant	rs7998452
Chromosome Location	chr13:80142704-80142705
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	chr13:80141740..80145180-chr13:80145215..80148510,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10492579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10507899	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1335373	0.92[EUR][1000 genomes]
rs1335374	0.88[EUR][1000 genomes]
rs1414157	1.00[EUR][1000 genomes]
rs17071385	1.00[CEU][hapmap]
rs17071415	1.00[CEU][hapmap]
rs17071499	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071532	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071549	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17071558	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071566	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071574	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071585	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071627	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071632	0.92[EUR][1000 genomes]
rs41288268	0.92[EUR][1000 genomes]
rs56711390	1.00[EUR][1000 genomes]
rs57032852	1.00[EUR][1000 genomes]
rs57929179	0.96[EUR][1000 genomes]
rs58056613	0.88[EUR][1000 genomes]
rs58069884	0.82[EUR][1000 genomes]
rs58406632	1.00[EUR][1000 genomes]
rs59165380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59381369	0.92[EUR][1000 genomes]
rs59755477	0.80[EUR][1000 genomes]
rs59783325	1.00[EUR][1000 genomes]
rs60126328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61318325	0.96[EUR][1000 genomes]
rs61676417	1.00[EUR][1000 genomes]
rs6563107	1.00[CEU][hapmap]
rs6563117	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7317409	0.92[EUR][1000 genomes]
rs7317511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318854	0.92[EUR][1000 genomes]
rs7327148	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7329633	0.84[EUR][1000 genomes]
rs7335191	0.88[EUR][1000 genomes]
rs7338043	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73548951	0.92[EUR][1000 genomes]
rs73548955	0.92[EUR][1000 genomes]
rs73551558	0.92[EUR][1000 genomes]
rs73551595	1.00[EUR][1000 genomes]
rs73551596	1.00[EUR][1000 genomes]
rs73551597	1.00[EUR][1000 genomes]
rs73551601	1.00[EUR][1000 genomes]
rs73551602	1.00[EUR][1000 genomes]
rs73553403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553418	0.96[EUR][1000 genomes]
rs73553424	1.00[EUR][1000 genomes]
rs73553431	1.00[EUR][1000 genomes]
rs73553447	1.00[EUR][1000 genomes]
rs73553448	0.96[EUR][1000 genomes]
rs73553473	1.00[EUR][1000 genomes]
rs73553481	0.96[EUR][1000 genomes]
rs73553499	0.92[EUR][1000 genomes]
rs73555409	0.88[EUR][1000 genomes]
rs73555411	0.92[EUR][1000 genomes]
rs73555415	0.92[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7981574	1.00[EUR][1000 genomes]
rs7984159	0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984598	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7985220	0.82[EUR][1000 genomes]
rs7985697	0.92[EUR][1000 genomes]
rs7990190	1.00[EUR][1000 genomes]
rs7990464	1.00[EUR][1000 genomes]
rs7992181	1.00[CEU][hapmap]
rs7997554	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8000870	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80135600-80147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:80140600-80155800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80141200-80144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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