Variant report

Variant	rs17487811
Chromosome Location	chr15:50184767-50184768
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	chr15:23086336..23086839-chr15:50184426..50184926,2	NB4	blood:
2	chr15:50179297..50182182-chr15:50184040..50186281,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170113	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1059851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1059852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11630021	1.00[JPT][hapmap]
rs11632077	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11632116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11633571	1.00[JPT][hapmap]
rs11633714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11633744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11633759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11853881	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12914231	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12915207	1.00[JPT][hapmap]
rs13329598	1.00[JPT][hapmap]
rs16962994	1.00[JPT][hapmap]
rs16962999	1.00[JPT][hapmap]
rs17486425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17486446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2413975	1.00[ASW][hapmap];0.96[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35996890	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4494482	1.00[JPT][hapmap]
rs4494483	1.00[JPT][hapmap]
rs4544192	1.00[JPT][hapmap]
rs6493383	1.00[JPT][hapmap]
rs7170482	1.00[JPT][hapmap]
rs7497350	1.00[JPT][hapmap]
rs8025533	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8031452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8036570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8038434	1.00[JPT][hapmap]
rs8041979	1.00[JPT][hapmap]
rs8042458	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv833003	chr15:50100372-50273309	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17487811	CEP152	cis	cerebellum	SCAN
rs17487811	TRPM7	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50135800-50187400	Weak transcription	Liver	Liver
2	chr15:50138200-50189800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:50145600-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:50149400-50198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:50161800-50210600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:50163000-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50167600-50200800	Weak transcription	Spleen	Spleen
8	chr15:50171200-50195200	Weak transcription	Placenta	Placenta
9	chr15:50174600-50187000	Weak transcription	Adipose Nuclei	Adipose
10	chr15:50180000-50193800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:50180200-50193800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:50180600-50187200	Weak transcription	Ovary	ovary
13	chr15:50180600-50190200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:50180600-50199400	Strong transcription	Primary hematopoietic stem cells	blood
15	chr15:50180800-50187400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:50181000-50188200	Weak transcription	Fetal Kidney	kidney
17	chr15:50181600-50187000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:50181600-50187200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:50182000-50187000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:50182000-50187400	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:50182000-50199200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:50182600-50187800	Weak transcription	Fetal Lung	lung
23	chr15:50184600-50191600	Weak transcription	Rectal Mucosa Donor 31	rectum

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