Variant report

Variant	rs17135193
Chromosome Location	chr5:112267496-112267497
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	chr5:112257473..112261765-chr5:112262739..112268514,7	K562	blood:
2	chr5:112254440..112257035-chr5:112267383..112269669,3	K562	blood:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10064080	0.85[ASN][1000 genomes]
rs10519333	0.81[CHB][hapmap]
rs11955830	1.00[ASW][hapmap]
rs13354064	0.83[ASN][1000 genomes]
rs13360667	0.85[ASN][1000 genomes]
rs17135067	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17135070	0.82[CHB][hapmap]
rs17135100	0.82[CHB][hapmap]
rs17135149	0.82[CHB][hapmap]
rs17135155	0.82[CHB][hapmap]
rs17290064	0.80[EUR][1000 genomes]
rs17310536	0.86[EUR][1000 genomes]
rs17311019	0.86[EUR][1000 genomes]
rs17311096	0.86[EUR][1000 genomes]
rs17359859	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17360045	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17369211	0.86[EUR][1000 genomes]
rs17369487	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17370550	0.93[EUR][1000 genomes]
rs17371015	0.93[EUR][1000 genomes]
rs1833560	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28635838	0.83[ASN][1000 genomes]
rs28789211	0.85[ASN][1000 genomes]
rs3733963	0.82[CHB][hapmap]
rs3822654	0.82[CHB][hapmap]
rs3892986	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3962814	0.88[ASN][1000 genomes]
rs55684649	0.80[EUR][1000 genomes]
rs55771309	0.81[EUR][1000 genomes]
rs55771959	0.80[EUR][1000 genomes]
rs55798475	0.86[EUR][1000 genomes]
rs56155803	0.81[EUR][1000 genomes]
rs56194248	0.80[EUR][1000 genomes]
rs56218335	0.80[EUR][1000 genomes]
rs56320268	0.80[EUR][1000 genomes]
rs56321569	0.93[EUR][1000 genomes]
rs56328836	0.80[EUR][1000 genomes]
rs57043077	0.80[EUR][1000 genomes]
rs57749964	0.94[ASN][1000 genomes]
rs58775131	0.93[ASN][1000 genomes]
rs59349522	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6594652	0.82[CHB][hapmap]
rs6864403	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6864647	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728344	1.00[ASW][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.91[ASN][1000 genomes]
rs728347	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73220038	0.80[EUR][1000 genomes]
rs73227370	0.91[ASN][1000 genomes]
rs73227382	0.94[ASN][1000 genomes]
rs73227383	0.91[ASN][1000 genomes]
rs7728481	0.84[CHB][hapmap]
rs7728766	0.93[EUR][1000 genomes]
rs7730241	0.93[ASN][1000 genomes]
rs7730441	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7735121	0.82[CHB][hapmap]
rs9885540	0.89[YRI][hapmap]

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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17135193	REEP5	cis	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112259000-112269200	Weak transcription	Osteobl	bone
3	chr5:112259600-112267600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:112262400-112267600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:112262400-112267800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:112262600-112267600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:112263200-112267600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:112263200-112268200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:112265600-112267800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:112265800-112267600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:112265800-112267800	Enhancers	Primary T cells from cord blood	blood
12	chr5:112265800-112267800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:112266000-112267600	Enhancers	GM12878-XiMat	blood
14	chr5:112266000-112270800	Weak transcription	Placenta	Placenta
15	chr5:112266600-112267600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:112266600-112267600	Enhancers	Fetal Heart	heart
17	chr5:112266600-112267600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:112266800-112267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:112267000-112267600	Enhancers	K562	blood
20	chr5:112267000-112267600	Enhancers	NHDF-Ad	bronchial
21	chr5:112267000-112269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:112267200-112267600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:112267200-112267800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:112267400-112268800	Weak transcription	NHLF	lung
25	chr5:112267400-112269000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:112267400-112269000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:112267400-112270000	Weak transcription	Primary B cells from cord blood	blood
28	chr5:112267400-112270200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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