Variant report

Variant	rs4775175
Chromosome Location	chr15:59816688-59816689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59815837..59817433-chr15:59923383..59925258,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11071453	0.81[ASN][1000 genomes]
rs11633141	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12443331	0.82[CHB][hapmap];0.84[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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv904279	chr15:59791666-59842927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv984079	chr15:59816507-59823194	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4775175	PRSS53	trans	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59807000-59818000	Enhancers	Primary B cells from peripheral blood	blood
2	chr15:59808000-59817600	Weak transcription	Fetal Brain Female	brain
3	chr15:59812600-59818000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:59814400-59817400	Enhancers	Primary hematopoietic stem cells	blood
5	chr15:59814400-59817800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr15:59814600-59817200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr15:59814600-59817200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr15:59814800-59817000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:59814800-59817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:59815000-59816800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:59815000-59817000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:59815200-59817000	Bivalent Enhancer	Fetal Thymus	thymus
13	chr15:59815200-59817200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr15:59815200-59817600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr15:59815400-59817000	Enhancers	GM12878-XiMat	blood
16	chr15:59815400-59817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:59815400-59817800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr15:59815600-59817000	Weak transcription	Esophagus	oesophagus
19	chr15:59816000-59818000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr15:59816200-59816800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:59816200-59817200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr15:59816400-59816800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:59816400-59816800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:59816400-59816800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:59816400-59817000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr15:59816400-59817000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:59816400-59817000	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr15:59816600-59816800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr15:59816600-59817000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr15:59816600-59817000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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