Variant report

Variant	rs17012147
Chromosome Location	chr4:128066388-128066389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128061832..128064365-chr4:128065851..128068645,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10013046	0.86[EUR][1000 genomes]
rs10518511	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10518514	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518515	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518517	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10518520	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11098918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11098919	0.84[ASN][1000 genomes]
rs1155135	0.98[ASN][1000 genomes]
rs11939315	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639943	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12649215	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12649568	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12651138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1443067	0.86[EUR][1000 genomes]
rs17011996	0.95[AMR][1000 genomes]
rs17012000	0.95[AMR][1000 genomes]
rs17012020	0.95[AMR][1000 genomes]
rs17012036	0.95[AMR][1000 genomes]
rs17012038	0.95[AMR][1000 genomes]
rs17012040	0.95[AMR][1000 genomes]
rs17012078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012097	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012138	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012312	0.86[EUR][1000 genomes]
rs17012314	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012316	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012372	1.00[EUR][1000 genomes]
rs17012378	0.86[EUR][1000 genomes]
rs1822359	1.00[EUR][1000 genomes]
rs1871736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28493833	0.86[EUR][1000 genomes]
rs28798206	0.84[ASN][1000 genomes]
rs35767037	0.86[EUR][1000 genomes]
rs4270600	0.84[ASN][1000 genomes]
rs4274865	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4306971	0.86[EUR][1000 genomes]
rs56786523	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56822169	0.95[AMR][1000 genomes]
rs57081812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57701757	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58916718	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59218603	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59789711	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61513058	0.86[EUR][1000 genomes]
rs6831453	1.00[EUR][1000 genomes]
rs72925363	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72929404	0.86[EUR][1000 genomes]
rs72929408	0.86[EUR][1000 genomes]
rs72929409	0.86[EUR][1000 genomes]
rs72929411	0.86[EUR][1000 genomes]
rs72929490	0.86[EUR][1000 genomes]
rs72929494	0.86[EUR][1000 genomes]
rs755815	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657020	1.00[EUR][1000 genomes]
rs920737	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879914	chr4:128005362-128123638	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128061200-128067800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:128062600-128066800	Enhancers	HSMMtube	muscle
3	chr4:128062600-128067000	Enhancers	HSMM	muscle
4	chr4:128065200-128066600	Weak transcription	Fetal Stomach	stomach
5	chr4:128065800-128067000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:128066200-128066400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:128066200-128066800	Enhancers	Brain Germinal Matrix	brain
8	chr4:128066200-128067000	Enhancers	Fetal Muscle Leg	muscle
9	chr4:128066200-128067400	Enhancers	Adipose Nuclei	Adipose
10	chr4:128066200-128068400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:128066200-128068400	Enhancers	Stomach Smooth Muscle	stomach

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