Variant report

Variant	rs4944592
Chromosome Location	chr11:86277048-86277049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86276014..86278494-chr11:86279344..86281031,2	K562	blood:

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];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898499	1.00[ASN][1000 genomes]
rs11234696	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11494275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12364541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12797575	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797615	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1379872	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1945043	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]
rs34249558	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4943943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4943945	0.93[ASN][1000 genomes]
rs7934133	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[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
rs4944592	PRSS23	cis	parietal	SCAN
rs4944592	PRSS23	cis	cerebellum	SCAN

Chromatin state (count:33 , 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	chr11:86270400-86281200	Weak transcription	Colonic Mucosa	Colon
5	chr11:86271000-86277800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:86271000-86278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:86271000-86279600	Weak transcription	Left Ventricle	heart
8	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
10	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
11	chr11:86271000-86291200	Weak transcription	Gastric	stomach
12	chr11:86272200-86278200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
14	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:86276000-86277400	Enhancers	Colon Smooth Muscle	Colon
16	chr11:86276000-86277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:86276200-86277200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:86276200-86277200	Enhancers	Rectal Smooth Muscle	rectum
19	chr11:86276200-86277400	Enhancers	Fetal Stomach	stomach
20	chr11:86276200-86277800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:86276400-86277400	Enhancers	Fetal Brain Female	brain
22	chr11:86276400-86277400	Enhancers	Stomach Smooth Muscle	stomach
23	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
24	chr11:86276800-86277200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:86276800-86277200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:86276800-86277200	Weak transcription	Brain Anterior Caudate	brain
27	chr11:86276800-86277400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:86276800-86277400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:86277000-86277200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:86277000-86277200	Enhancers	Lung	lung
31	chr11:86277000-86277400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:86277000-86277400	Enhancers	Fetal Muscle Leg	muscle
33	chr11:86277000-86277400	Enhancers	Ovary	ovary

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