Variant report

Variant	rs7934133
Chromosome Location	chr11:86270085-86270086
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	chr11:86262717..86264689-chr11:86268387..86270580,2	K562	blood:
2	chr11:86262717..86267306-chr11:86267852..86270580,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10898498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10898499	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234696	0.86[ASN][1000 genomes]
rs11494275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11606745	1.00[JPT][hapmap]
rs11607733	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs12364541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12797575	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12797615	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs1379872	0.96[ASN][1000 genomes]
rs1945043	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]
rs34249558	1.00[ASN][1000 genomes]
rs4943943	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs4943945	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944592	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7934133	PRSS23	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
5	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
6	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:86262400-86270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:86263200-86270200	Weak transcription	Fetal Lung	lung
9	chr11:86263200-86270600	Weak transcription	Gastric	stomach
10	chr11:86263400-86270200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:86263400-86270200	Weak transcription	NH-A	brain
12	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
13	chr11:86263800-86270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:86264200-86271200	Weak transcription	Brain Germinal Matrix	brain
15	chr11:86264400-86270200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:86265000-86270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:86265000-86270200	Weak transcription	Lung	lung
18	chr11:86265000-86270400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea
20	chr11:86266400-86278200	Weak transcription	A549	lung
21	chr11:86266600-86270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:86267200-86271000	Enhancers	Fetal Heart	heart
23	chr11:86267400-86270200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:86267800-86271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:86268000-86271000	Enhancers	HSMMtube	muscle
26	chr11:86268400-86271000	Enhancers	Right Atrium	heart
27	chr11:86268600-86270600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:86268600-86271400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:86268800-86270200	Enhancers	NHEK	skin
30	chr11:86268800-86270600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:86268800-86271000	Enhancers	Right Ventricle	heart
32	chr11:86268800-86271200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:86269000-86270200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:86269000-86270200	Enhancers	Osteobl	bone
35	chr11:86269000-86270400	Strong transcription	Fetal Brain Female	brain
36	chr11:86269000-86271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:86269000-86271000	Enhancers	Fetal Muscle Leg	muscle
38	chr11:86269000-86271000	Enhancers	Left Ventricle	heart
39	chr11:86269000-86271000	Enhancers	Stomach Mucosa	stomach
40	chr11:86269000-86271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:86269200-86271200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:86269200-86271400	Enhancers	HMEC	breast
43	chr11:86269400-86270400	Enhancers	Adipose Nuclei	Adipose
44	chr11:86269400-86270600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:86269400-86270800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:86269400-86270800	Enhancers	Spleen	Spleen
47	chr11:86269400-86271000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:86269400-86271000	Enhancers	Hela-S3	cervix
49	chr11:86269400-86271200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:86269400-86271200	Enhancers	Fetal Intestine Large	intestine

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