Variant report

Variant	rs10188555
Chromosome Location	chr2:55086183-55086184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55085400..55087533-chr2:55090149..55092630,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12713278	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13033668	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13033818	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165006	0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545449	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7574117	0.92[ASN][1000 genomes]
rs7596552	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs993541	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv457930	chr2:55073428-55091029	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv582028	chr2:55073428-55091029	Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10188555	PRSS41	trans	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:55072600-55091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:55078000-55086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55078000-55087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:55078200-55087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:55084400-55087000	Enhancers	HepG2	liver
13	chr2:55084400-55088800	Enhancers	HSMMtube	muscle
14	chr2:55084800-55086200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:55084800-55088400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:55084800-55088400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:55085000-55086200	Enhancers	Hela-S3	cervix
18	chr2:55085400-55086400	Enhancers	Liver	Liver
19	chr2:55085400-55086400	Enhancers	GM12878-XiMat	blood
20	chr2:55085400-55086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:55085400-55088200	Enhancers	NHDF-Ad	bronchial
22	chr2:55085800-55087000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:55085800-55087000	Weak transcription	NH-A	brain
24	chr2:55085800-55087000	Weak transcription	NHEK	skin
25	chr2:55085800-55087000	Weak transcription	Osteobl	bone
26	chr2:55085800-55087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:55086000-55087000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:55086000-55087000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:55086000-55087400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:55086000-55087400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:55086000-55088600	Enhancers	HSMM	muscle

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