Variant report

Variant	rs11718136
Chromosome Location	chr3:143515899-143515900
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11706302	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11711676	0.82[EUR][1000 genomes]
rs11714765	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11719982	0.80[AMR][1000 genomes]
rs11720499	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11721078	0.82[AMR][1000 genomes]
rs11919889	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11919894	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11924528	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11924554	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12233446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16854336	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1985503	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2121775	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34283894	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4589932	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4632538	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55936201	0.82[EUR][1000 genomes]
rs56166522	0.80[AMR][1000 genomes]
rs56969315	0.82[EUR][1000 genomes]
rs6800578	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6807571	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1001076	chr3:143513526-143547076	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv536747	chr3:143513526-143547076	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143505800-143525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:143506000-143521200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:143512000-143529200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:143513400-143517400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:143513600-143516800	Weak transcription	HSMM	muscle
6	chr3:143513600-143533600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:143513800-143516000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:143513800-143517800	Weak transcription	Fetal Stomach	stomach
9	chr3:143513800-143525800	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:143514000-143524200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:143514000-143527400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:143514200-143519800	Weak transcription	HSMMtube	muscle
13	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
14	chr3:143514600-143517000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:143515000-143517600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr3:143515000-143517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:143515000-143522200	Weak transcription	Primary monocytes fromperipheralblood	blood

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