Variant report

Variant	rs4943946
Chromosome Location	chr11:86273376-86273377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10792857	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs10792858	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898500	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898501	0.95[JPT][hapmap]
rs12287767	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1350478	0.87[CHB][hapmap]
rs1458382	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17211115	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1945036	0.95[JPT][hapmap]
rs4144867	0.95[JPT][hapmap]
rs4391846	0.95[JPT][hapmap]
rs4944595	0.91[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs4944596	0.95[JPT][hapmap];0.84[YRI][hapmap]
rs7103271	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109521	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7109555	0.81[ASN][1000 genomes]
rs7126810	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127944	0.95[JPT][hapmap];0.84[YRI][hapmap]
rs7130902	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7924879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7951185	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4943946	DPYD	trans	lymphoblastoid	seeQTL
rs4943946	ADAM23	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea
3	chr11:86266400-86278200	Weak transcription	A549	lung
4	chr11:86270400-86276400	Weak transcription	Fetal Brain Female	brain
5	chr11:86270400-86281200	Weak transcription	Colonic Mucosa	Colon
6	chr11:86270600-86276400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:86271000-86276000	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:86271000-86276200	Weak transcription	Fetal Stomach	stomach
9	chr11:86271000-86276200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:86271000-86276800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:86271000-86277000	Weak transcription	Lung	lung
12	chr11:86271000-86277800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:86271000-86278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:86271000-86279600	Weak transcription	Left Ventricle	heart
15	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
17	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
18	chr11:86271000-86291200	Weak transcription	Gastric	stomach
19	chr11:86271400-86277000	Weak transcription	Ovary	ovary
20	chr11:86272200-86278200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas

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