Variant report

Variant	rs11721078
Chromosome Location	chr3:143527546-143527547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11706302	0.88[CHB][hapmap]
rs11714765	0.82[AMR][1000 genomes]
rs11718136	0.82[AMR][1000 genomes]
rs11719982	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720499	0.88[CHB][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes]
rs11919889	0.81[AMR][1000 genomes]
rs11919894	0.81[AMR][1000 genomes]
rs12233446	0.88[CHB][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes]
rs1985503	0.82[AMR][1000 genomes]
rs2121775	0.86[CHB][hapmap];0.82[AMR][1000 genomes]
rs34283894	0.83[AMR][1000 genomes]
rs4589932	0.82[AMR][1000 genomes]
rs56166522	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800578	0.88[CHB][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes]
rs6807571	0.83[CEU][hapmap];0.88[CHB][hapmap]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143512000-143529200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143513600-143533600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
4	chr3:143524200-143533200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:143525400-143529600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:143525800-143528800	Enhancers	Fetal Muscle Leg	muscle
7	chr3:143525800-143530800	Enhancers	Fetal Stomach	stomach
8	chr3:143526000-143530800	Weak transcription	Small Intestine	intestine
9	chr3:143526200-143528000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:143526200-143528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:143526200-143528600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:143526200-143530400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:143526400-143531200	Weak transcription	Spleen	Spleen
14	chr3:143526800-143527800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:143526800-143531000	Enhancers	NHDF-Ad	bronchial
16	chr3:143526800-143533000	Weak transcription	Right Atrium	heart
17	chr3:143527000-143528000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:143527000-143528000	Weak transcription	Ovary	ovary
19	chr3:143527200-143527600	Weak transcription	NHLF	lung
20	chr3:143527200-143529000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:143527400-143527800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:143527400-143528200	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:143527400-143531200	Enhancers	Fetal Lung	lung

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