Variant report

Variant	rs7596552
Chromosome Location	chr2:55082903-55082904
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55077644..55080366-chr2:55082902..55084991,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10188555	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713278	1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13033668	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033818	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2033411	0.83[ASW][hapmap];0.84[LWK][hapmap];0.97[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs2165006	0.95[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671979	0.83[ASW][hapmap];0.81[LWK][hapmap];0.99[MKK][hapmap];0.86[YRI][hapmap]
rs6545449	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7574117	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891745	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs993541	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv874154	chr2:55063113-55084583	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
rs7596552	PRSS41	trans	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55066800-55084400	Weak transcription	HSMMtube	muscle
2	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:55072600-55091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:55078000-55086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55078000-55087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:55078200-55087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:55081400-55085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:55082200-55083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55082200-55083200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:55082400-55083000	Enhancers	HMEC	breast
17	chr2:55082400-55083400	Enhancers	HSMM	muscle
18	chr2:55082400-55083400	Enhancers	Osteobl	bone
19	chr2:55082400-55083600	Enhancers	NHDF-Ad	bronchial
20	chr2:55082600-55085000	Weak transcription	Hela-S3	cervix
21	chr2:55082800-55083000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:55082800-55083200	Enhancers	HepG2	liver

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