Variant report

Variant	rs448162
Chromosome Location	chr5:112182691-112182692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112181863..112184195-chr5:112311547..112314044,2	K562	blood:
2	chr5:112182395..112185166-chr5:112196158..112198172,2	K562	blood:
3	chr5:112176263..112181367-chr5:112181688..112184725,5	K562	blood:
4	chr5:112089718..112092112-chr5:112180535..112183405,2	K562	blood:
5	chr5:112180772..112183270-chr5:112188278..112191041,2	K562	blood:
6	chr5:112181480..112186029-chr5:112194933..112197058,4	MCF-7	breast:
7	chr5:111990789..111993618-chr5:112182329..112184626,2	K562	blood:
8	chr5:112180694..112183270-chr5:112188278..112192219,3	K562	blood:

No data

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

Extended variants
information (count: 112 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10075281	0.92[ASW][hapmap];0.83[CHD][hapmap]
rs1069061	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs1093611	0.90[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs1093677	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs11241182	0.92[ASW][hapmap];0.85[CHD][hapmap]
rs11241185	0.92[ASW][hapmap];0.88[CHD][hapmap]
rs149130	0.83[ASW][hapmap]
rs151976	0.83[CEU][hapmap]
rs151977	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1530256	0.84[CHB][hapmap]
rs153544	0.88[CHB][hapmap]
rs153546	0.80[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs153548	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs153549	0.90[CHB][hapmap]
rs153550	0.83[ASN][1000 genomes]
rs1866924	0.83[ASW][hapmap];0.80[CHD][hapmap]
rs1914	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1966476	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1968557	0.84[CHB][hapmap]
rs1974786	0.81[CHB][hapmap]
rs2019720	0.82[JPT][hapmap]
rs2229992	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289484	0.92[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs2431241	0.83[ASW][hapmap]
rs2431512	0.92[ASW][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs2439595	0.89[CHB][hapmap]
rs2464803	0.83[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs2545155	0.92[ASN][1000 genomes]
rs2545156	0.92[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs2545162	0.80[CEU][hapmap]
rs2545163	0.87[CEU][hapmap]
rs2545166	0.92[CEU][hapmap]
rs2545167	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs2545169	0.80[CEU][hapmap]
rs2545170	0.83[ASN][1000 genomes]
rs2546106	0.84[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap]
rs2546107	0.83[ASN][1000 genomes]
rs2546108	0.83[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap]
rs2546110	0.92[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2546112	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2546115	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs2546117	0.85[CHB][hapmap]
rs2707763	0.84[CHB][hapmap]
rs2707765	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs3317	0.83[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs351767	0.87[ASN][1000 genomes]
rs351768	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs351770	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs368575	0.84[ASN][1000 genomes]
rs372492	0.84[CEU][hapmap]
rs373059	0.90[ASN][1000 genomes]
rs374613	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs382260	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs382427	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs390092	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs392907	0.80[CEU][hapmap]
rs395858	1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs396321	0.92[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap]
rs410701	0.83[ASN][1000 genomes]
rs41116	0.98[ASN][1000 genomes]
rs411356	0.80[CEU][hapmap]
rs414098	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs419155	0.83[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs419632	0.80[CEU][hapmap]
rs429427	0.88[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs431287	0.84[CEU][hapmap]
rs434157	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs448475	0.98[ASN][1000 genomes]
rs448613	0.84[ASN][1000 genomes]
rs454886	0.84[CHB][hapmap]
rs454968	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs456313	0.80[CEU][hapmap]
rs456531	0.81[ASN][1000 genomes]
rs459102	0.84[ASN][1000 genomes]
rs460137	0.92[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs463229	0.84[CEU][hapmap]
rs465454	0.80[CEU][hapmap]
rs467033	0.92[ASW][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap]
rs469760	0.84[CEU][hapmap]
rs469827	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs469886	0.90[CHB][hapmap]
rs4705486	0.92[ASW][hapmap];0.85[CHD][hapmap]
rs4705559	0.92[ASW][hapmap];0.85[CHD][hapmap]
rs4705608	0.84[CHB][hapmap]
rs4705610	0.92[ASW][hapmap];0.83[CHD][hapmap]
rs4705624	0.89[CHB][hapmap]
rs495794	0.80[CEU][hapmap];0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs505382	0.94[ASN][1000 genomes]
rs514763	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs519397	0.80[CEU][hapmap]
rs566419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6594646	0.92[ASW][hapmap];0.88[CHD][hapmap]
rs67293732	0.81[ASN][1000 genomes]
rs6862050	0.84[CHB][hapmap]
rs712663	0.84[ASN][1000 genomes]
rs712668	0.84[CEU][hapmap]
rs712670	0.84[ASN][1000 genomes]
rs7213	0.87[CEU][hapmap];0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs818425	0.80[CEU][hapmap]
rs818427	0.84[CEU][hapmap]
rs818428	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs818429	0.84[ASN][1000 genomes]
rs818430	0.81[ASN][1000 genomes]
rs818797	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs9011	0.83[CEU][hapmap]
rs9326863	0.92[ASW][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap]

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	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs448162	REEP5	cis	cerebellum	SCAN
rs448162	REEP5	cis	lymphoblastoid	seeQTL
rs448162	NCRNA00219	cis	parietal	SCAN
rs448162	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:112152000-112183800	Weak transcription	Gastric	stomach
4	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
5	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:112174000-112183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:112174200-112183800	Weak transcription	Hela-S3	cervix
8	chr5:112174400-112183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:112174600-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:112174600-112184200	Weak transcription	Ovary	ovary
11	chr5:112174800-112183800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:112174800-112183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:112174800-112183800	Weak transcription	NHEK	skin
14	chr5:112175200-112183800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:112175400-112183800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:112175400-112187600	Weak transcription	NHLF	lung
17	chr5:112175600-112183800	Weak transcription	Psoas Muscle	Psoas
18	chr5:112175600-112183800	Weak transcription	GM12878-XiMat	blood
19	chr5:112175600-112184000	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:112175600-112184000	Weak transcription	Placenta	Placenta
21	chr5:112175800-112183600	Weak transcription	Liver	Liver
22	chr5:112175800-112183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:112175800-112183800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:112175800-112183800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:112175800-112183800	Weak transcription	A549	lung
26	chr5:112175800-112183800	Weak transcription	Dnd41	blood
27	chr5:112176000-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:112176000-112183800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:112176200-112183800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:112176200-112183800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:112176200-112183800	Weak transcription	HUVEC	blood vessel
32	chr5:112176200-112183800	Weak transcription	NH-A	brain
33	chr5:112176200-112183800	Weak transcription	Osteobl	bone
34	chr5:112176200-112184000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:112176400-112183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:112176400-112183800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:112176400-112183800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:112176400-112183800	Weak transcription	Fetal Intestine Large	intestine
39	chr5:112176400-112183800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:112176600-112183800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:112176600-112183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:112176600-112183800	Weak transcription	Adipose Nuclei	Adipose
43	chr5:112176600-112183800	Weak transcription	Brain Anterior Caudate	brain
44	chr5:112176600-112183800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:112176600-112183800	Weak transcription	Brain Substantia Nigra	brain
46	chr5:112176600-112183800	Weak transcription	Left Ventricle	heart
47	chr5:112176600-112183800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:112176600-112183800	Weak transcription	NHDF-Ad	bronchial
49	chr5:112176800-112185800	Weak transcription	Primary B cells from cord blood	blood
50	chr5:112177200-112183600	Weak transcription	HepG2	liver

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