Variant report

Variant	rs368575
Chromosome Location	chr5:112204896-112204897
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112196333..112202800-chr5:112202907..112207825,7	MCF-7	breast:
2	chr5:112204419..112206839-chr5:112213966..112216300,2	K562	blood:
3	chr5:112203523..112205062-chr5:112311681..112313579,2	K562	blood:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1093611	0.93[ASN][1000 genomes]
rs1093677	0.82[CHD][hapmap]
rs11241185	0.80[CEU][hapmap]
rs12518091	0.84[CEU][hapmap]
rs149130	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs149190	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs149191	0.82[EUR][1000 genomes]
rs149192	0.84[CEU][hapmap];0.87[TSI][hapmap]
rs149193	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs151977	0.83[CHD][hapmap]
rs153544	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153546	0.91[ASN][1000 genomes]
rs153548	0.91[ASN][1000 genomes]
rs153549	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs153550	0.91[ASN][1000 genomes]
rs153551	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153552	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153556	0.85[EUR][1000 genomes]
rs153557	0.84[EUR][1000 genomes]
rs153561	0.82[EUR][1000 genomes]
rs153563	0.82[EUR][1000 genomes]
rs154344	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17135222	0.81[TSI][hapmap]
rs1914	0.81[CEU][hapmap]
rs1974786	0.83[CEU][hapmap]
rs2019720	0.84[CEU][hapmap]
rs2289484	0.80[GIH][hapmap]
rs2431241	0.81[CEU][hapmap]
rs2431512	0.84[CEU][hapmap]
rs2545155	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2545156	1.00[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2545162	0.82[CHD][hapmap]
rs2545166	0.82[JPT][hapmap]
rs2545167	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs2545170	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2546108	0.80[CEU][hapmap]
rs2546112	0.83[ASN][1000 genomes]
rs2546115	0.89[ASN][1000 genomes]
rs2707765	0.80[CEU][hapmap]
rs2909958	0.82[JPT][hapmap]
rs3317	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351767	0.95[ASN][1000 genomes]
rs351768	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351769	0.82[JPT][hapmap]
rs351770	0.94[ASN][1000 genomes]
rs351771	0.82[CHD][hapmap]
rs372492	0.82[JPT][hapmap]
rs373059	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs374613	1.00[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs382260	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs382427	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs395858	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs410701	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41116	0.82[ASN][1000 genomes]
rs411356	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs414098	0.84[CEU][hapmap]
rs419155	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429427	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs430665	0.83[CHD][hapmap]
rs431287	0.82[JPT][hapmap]
rs448162	0.84[ASN][1000 genomes]
rs448475	0.82[ASN][1000 genomes]
rs448613	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454968	0.83[ASN][1000 genomes]
rs455412	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs456313	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs456531	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458451	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs459102	0.93[ASN][1000 genomes]
rs460137	1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs463229	0.82[JPT][hapmap]
rs464708	0.80[CHD][hapmap]
rs465454	0.83[CHD][hapmap]
rs467033	0.84[CEU][hapmap]
rs468610	0.83[ASN][1000 genomes]
rs468751	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs468854	0.88[ASN][1000 genomes]
rs469727	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs469760	0.82[JPT][hapmap]
rs469827	0.90[ASN][1000 genomes]
rs469886	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705486	0.81[TSI][hapmap]
rs4705559	0.84[CEU][hapmap]
rs4705608	0.84[CEU][hapmap]
rs4705610	0.84[CEU][hapmap]
rs495794	0.95[ASN][1000 genomes]
rs497844	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs505382	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs514763	0.94[ASN][1000 genomes]
rs566419	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6594646	0.84[CEU][hapmap]
rs67293732	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6862050	0.81[CEU][hapmap]
rs698405	0.82[JPT][hapmap]
rs712662	0.83[CHD][hapmap]
rs712663	0.92[ASN][1000 genomes]
rs712665	0.83[CHD][hapmap]
rs712668	0.81[JPT][hapmap]
rs712670	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213	0.95[ASN][1000 genomes]
rs7704618	0.84[CEU][hapmap]
rs818425	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs818426	0.95[EUR][1000 genomes]
rs818428	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs818429	0.93[ASN][1000 genomes]
rs818430	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs818782	0.80[EUR][1000 genomes]
rs818797	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9011	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv4960	chr5:112200199-112218299	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs368575	REEP5	cis	Esophagus Muscularis	GTEx
rs368575	REEP5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112197800-112211800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:112198000-112205000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112198400-112211200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:112198400-112220600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:112198600-112205600	Weak transcription	Fetal Brain Male	brain
6	chr5:112198600-112206600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:112198600-112206800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr5:112198600-112206800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:112198600-112206800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr5:112198600-112207000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr5:112198600-112207000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:112198600-112207400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr5:112198600-112208800	Strong transcription	Fetal Thymus	thymus
14	chr5:112198800-112206800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:112198800-112206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:112198800-112207200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:112198800-112208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:112199000-112206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:112199000-112207000	Strong transcription	Placenta	Placenta
20	chr5:112199000-112207200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:112199000-112208000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112199200-112206200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr5:112199200-112206400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:112199200-112207200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:112199200-112210200	Weak transcription	Psoas Muscle	Psoas
27	chr5:112199200-112213200	Weak transcription	Fetal Heart	heart
28	chr5:112199200-112213400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:112199400-112205000	Weak transcription	Aorta	Aorta
30	chr5:112199400-112205000	Weak transcription	Right Ventricle	heart
31	chr5:112199400-112206600	Strong transcription	HSMM	muscle
32	chr5:112199400-112206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:112199400-112206800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:112199400-112206800	Strong transcription	Fetal Intestine Large	intestine
35	chr5:112199400-112206800	Strong transcription	A549	lung
36	chr5:112199400-112207000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:112199400-112207000	Strong transcription	Fetal Muscle Leg	muscle
38	chr5:112199400-112207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:112199400-112207400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:112199400-112207600	Strong transcription	HSMMtube	muscle
41	chr5:112199400-112215000	Weak transcription	Small Intestine	intestine
42	chr5:112199600-112205200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:112199600-112205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:112199600-112206200	Weak transcription	Esophagus	oesophagus
45	chr5:112199600-112206400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:112199600-112206400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:112199600-112206600	Strong transcription	Adipose Nuclei	Adipose
48	chr5:112199600-112206800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:112199600-112206800	Strong transcription	NHEK	skin
50	chr5:112199600-112207200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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