Variant report

Variant	rs17135155
Chromosome Location	chr5:112238979-112238980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112238408..112240377-chr5:112318483..112320645,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10058561	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10515446	0.81[CHD][hapmap]
rs10515449	0.90[JPT][hapmap]
rs10519333	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11555908	1.00[EUR][1000 genomes]
rs11950612	0.81[CHD][hapmap]
rs12189	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs13360640	1.00[EUR][1000 genomes]
rs17135066	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17135070	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135100	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135108	0.92[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135117	0.83[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135149	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135193	0.82[CHB][hapmap]
rs17164132	0.81[CHD][hapmap]
rs2304793	0.86[CHD][hapmap]
rs2900065	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3733961	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs3733963	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822652	0.90[CHB][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822654	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3892986	1.00[EUR][1000 genomes]
rs57726881	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57749964	1.00[EUR][1000 genomes]
rs58625991	1.00[EUR][1000 genomes]
rs58865195	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59349522	1.00[EUR][1000 genomes]
rs6594652	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6864403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6864647	0.82[CHB][hapmap]
rs728344	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73227382	1.00[EUR][1000 genomes]
rs73227383	1.00[EUR][1000 genomes]
rs7701868	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7706623	0.81[CHD][hapmap]
rs7728109	0.91[CHB][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7728481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7728766	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7730241	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7735121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9687790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17135155	REEP5	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
10	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:112223000-112243000	Weak transcription	Right Ventricle	heart
16	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
17	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
20	chr5:112224800-112242400	Weak transcription	Right Atrium	heart
21	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:112225000-112251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:112226800-112239000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112227200-112239000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:112227400-112239200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:112227600-112240200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:112227600-112240200	Strong transcription	Primary T cells from cord blood	blood
28	chr5:112228600-112242400	Weak transcription	Spleen	Spleen
29	chr5:112229600-112241400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112229600-112250000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:112230200-112251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:112231200-112240000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:112231600-112239000	Strong transcription	HSMM	muscle
35	chr5:112231600-112239200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:112232000-112242800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:112232200-112242200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:112232200-112242200	Weak transcription	HepG2	liver
39	chr5:112232600-112242800	Weak transcription	Pancreas	Pancrea
40	chr5:112232600-112250200	Weak transcription	Stomach Mucosa	stomach
41	chr5:112232800-112242800	Weak transcription	Brain Substantia Nigra	brain
42	chr5:112233600-112239200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:112233600-112246600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:112233800-112239600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:112234200-112249400	Weak transcription	Fetal Heart	heart
46	chr5:112234400-112242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112234600-112246400	Weak transcription	HMEC	breast
48	chr5:112234800-112239200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:112235200-112245200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:112235600-112242800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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