Variant report

Variant	rs1945043
Chromosome Location	chr11:86280979-86280980
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86276014..86278494-chr11:86279344..86281031,2	K562	blood:
2	chr11:86174300..86177021-chr11:86280840..86283667,2	MCF-7	breast:
3	chr11:86168251..86170470-chr11:86280269..86282834,2	MCF-7	breast:
4	chr11:86169916..86172612-chr11:86280492..86283245,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10898498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898499	0.96[ASN][1000 genomes]
rs11234696	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11494275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11606745	1.00[JPT][hapmap]
rs11607733	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12364541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12797575	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12797615	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379872	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34249558	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4943943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4943945	0.89[ASN][1000 genomes]
rs4944592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7934133	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[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
rs1945043	PRSS23	cis	parietal	SCAN
rs1945043	PRSS23	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86270400-86281200	Weak transcription	Colonic Mucosa	Colon
3	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
5	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
6	chr11:86271000-86291200	Weak transcription	Gastric	stomach
7	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
8	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
10	chr11:86277200-86282400	Weak transcription	Lung	lung
11	chr11:86277400-86281000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:86277400-86281200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
16	chr11:86278200-86282000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:86278600-86283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:86278800-86281200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86279000-86281400	Weak transcription	Fetal Intestine Small	intestine
20	chr11:86279000-86285200	Weak transcription	Hela-S3	cervix
21	chr11:86279000-86285600	Weak transcription	Adipose Nuclei	Adipose
22	chr11:86279000-86289000	Weak transcription	NHEK	skin
23	chr11:86279200-86281000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:86279200-86281200	Weak transcription	Fetal Intestine Large	intestine
25	chr11:86279400-86285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:86279400-86285600	Weak transcription	Fetal Stomach	stomach
27	chr11:86279400-86285600	Weak transcription	Ovary	ovary
28	chr11:86279600-86281000	Weak transcription	HUVEC	blood vessel
29	chr11:86279800-86282800	Weak transcription	Stomach Mucosa	stomach
30	chr11:86279800-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:86280000-86285600	Weak transcription	Pancreas	Pancrea
33	chr11:86280200-86282000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:86280600-86285600	Weak transcription	Left Ventricle	heart
35	chr11:86280800-86282400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:86280800-86282800	Enhancers	A549	lung

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