Variant report

Variant	rs13158244
Chromosome Location	chr5:52110814-52110815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52096565..52098575-chr5:52109478..52111812,2	K562	blood:
2	chr5:52109578..52112002-chr5:52112404..52113965,2	MCF-7	breast:
3	chr5:52105817..52109193-chr5:52109849..52112036,3	K562	blood:
4	chr5:52105817..52108031-chr5:52110536..52112138,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10940270	0.89[ASW][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11742326	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12652120	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12653042	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13162617	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs13182946	1.00[CEU][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13188662	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13189629	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2454581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454582	0.89[ASN][1000 genomes]
rs2548495	0.88[ASN][1000 genomes]
rs2648728	0.88[ASN][1000 genomes]
rs2938796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879140	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6889045	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13158244	PELO	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52099000-52118000	Weak transcription	Right Ventricle	heart
2	chr5:52099600-52112800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:52099800-52112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:52099800-52118200	Weak transcription	Psoas Muscle	Psoas
5	chr5:52100600-52113400	Enhancers	Colon Smooth Muscle	Colon
6	chr5:52100800-52112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:52100800-52113200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:52103000-52112000	Weak transcription	Dnd41	blood
9	chr5:52105200-52111200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:52106200-52115600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:52106200-52132600	Weak transcription	Lung	lung
12	chr5:52106600-52111400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:52106600-52113800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:52106600-52114600	Weak transcription	Fetal Kidney	kidney
15	chr5:52107600-52113600	Weak transcription	HepG2	liver
16	chr5:52108000-52123000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:52108800-52118400	Weak transcription	Aorta	Aorta
18	chr5:52109400-52111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:52109800-52112400	Weak transcription	Liver	Liver
20	chr5:52109800-52123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:52110000-52111400	Enhancers	Adipose Nuclei	Adipose
22	chr5:52110000-52111400	Enhancers	HUVEC	blood vessel
23	chr5:52110000-52112800	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:52110000-52114000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:52110000-52118200	Weak transcription	NHLF	lung
26	chr5:52110200-52118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:52110200-52118200	Weak transcription	Left Ventricle	heart
28	chr5:52110200-52118200	Weak transcription	Right Atrium	heart
29	chr5:52110400-52111400	Enhancers	Fetal Stomach	stomach
30	chr5:52110400-52113200	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:52110600-52111200	Enhancers	Small Intestine	intestine
32	chr5:52110800-52111000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:52110800-52111400	Enhancers	Spleen	Spleen
34	chr5:52110800-52111600	Enhancers	Fetal Lung	lung

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