Variant report

Variant	rs1348716
Chromosome Location	chr5:60746985-60746986
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	chr5:60724092..60725738-chr5:60745887..60748387,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10041978	0.94[ASN][1000 genomes]
rs1045352	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10514910	0.87[CHB][hapmap]
rs10939900	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10939901	0.82[ASN][1000 genomes]
rs10939902	0.81[ASN][1000 genomes]
rs10939903	0.94[ASN][1000 genomes]
rs10939905	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742658	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743711	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747564	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11749200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11750589	0.81[ASN][1000 genomes]
rs11950318	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11952146	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11954430	1.00[ASN][1000 genomes]
rs12187112	0.93[AMR][1000 genomes]
rs12188685	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12188710	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12189001	0.82[ASN][1000 genomes]
rs12518479	0.82[ASN][1000 genomes]
rs12519658	0.81[CHB][hapmap]
rs12520628	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12522647	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156100	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13157657	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157831	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13158413	0.94[ASN][1000 genomes]
rs13158675	0.82[ASN][1000 genomes]
rs13159018	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13159166	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13160801	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162358	0.82[ASN][1000 genomes]
rs13162694	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13163970	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166934	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169711	0.82[ASN][1000 genomes]
rs13170262	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171497	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13171757	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13172080	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178686	0.82[ASN][1000 genomes]
rs13179091	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13179617	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13181015	0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13185068	0.98[ASN][1000 genomes]
rs13185783	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13186194	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13188685	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1363892	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1374043	1.00[ASN][1000 genomes]
rs1445976	0.98[ASN][1000 genomes]
rs1445979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1445980	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1445981	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477355	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892286	0.81[CHB][hapmap]
rs16892307	0.81[CHB][hapmap]
rs16892374	0.81[CHB][hapmap]
rs17424296	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1986252	1.00[ASN][1000 genomes]
rs2034239	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053693	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053694	0.98[ASN][1000 genomes]
rs2276987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28610339	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34739794	0.80[ASN][1000 genomes]
rs35262187	0.82[ASN][1000 genomes]
rs4276369	0.94[JPT][hapmap]
rs4392578	0.82[ASN][1000 genomes]
rs4484384	0.82[ASN][1000 genomes]
rs4604142	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs55838118	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56035042	0.82[ASN][1000 genomes]
rs60529601	0.82[ASN][1000 genomes]
rs60886975	0.82[ASN][1000 genomes]
rs62368660	0.82[ASN][1000 genomes]
rs6449528	0.80[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6449529	0.82[ASN][1000 genomes]
rs6449530	0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6449531	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449532	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449533	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449535	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66775554	0.98[ASN][1000 genomes]
rs6860608	0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6865624	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874264	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6874266	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6877610	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6878927	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6879809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6881765	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6881799	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6882136	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6885005	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6890351	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6894675	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6895046	1.00[ASN][1000 genomes]
rs6898746	0.97[ASN][1000 genomes]
rs7443602	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7700289	0.82[ASN][1000 genomes]
rs7701440	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs7709645	0.81[ASN][1000 genomes]
rs7714457	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714712	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7717082	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719647	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722810	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7724551	0.80[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs7727824	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7732234	0.95[ASN][1000 genomes]
rs7734879	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1348716	DEPDC1B	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60737800-60757000	Weak transcription	Gastric	stomach
2	chr5:60739600-60750400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:60739600-60752200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:60740600-60747600	Enhancers	Brain Substantia Nigra	brain
5	chr5:60741400-60747000	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:60741600-60747000	Enhancers	Brain Hippocampus Middle	brain
7	chr5:60741800-60748000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:60742600-60748000	Enhancers	Brain Angular Gyrus	brain
9	chr5:60742800-60747200	Enhancers	Colon Smooth Muscle	Colon
10	chr5:60743600-60756200	Weak transcription	Fetal Kidney	kidney
11	chr5:60744200-60751200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:60744400-60767800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:60744600-60747200	Enhancers	Brain Anterior Caudate	brain
14	chr5:60744600-60747400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:60744600-60747600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:60744800-60747000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:60744800-60747000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:60744800-60747000	Enhancers	NHLF	lung
19	chr5:60745200-60747000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:60745200-60747000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:60745200-60747400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:60745200-60747400	Enhancers	HMEC	breast
23	chr5:60745200-60747600	Enhancers	NHEK	skin
24	chr5:60745200-60747800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:60745200-60748600	Enhancers	HSMM	muscle
26	chr5:60745400-60747000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:60745400-60747000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:60745400-60747000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:60745400-60747000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:60745400-60747000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:60745400-60747000	Enhancers	Stomach Smooth Muscle	stomach
32	chr5:60745400-60747000	Flanking Active TSS	A549	lung
33	chr5:60745400-60747200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:60745400-60747200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:60745400-60747200	Enhancers	Small Intestine	intestine
36	chr5:60745400-60747600	Enhancers	HUVEC	blood vessel
37	chr5:60745600-60747000	Enhancers	Adipose Nuclei	Adipose
38	chr5:60745600-60747000	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:60745600-60747000	Enhancers	Fetal Heart	heart
40	chr5:60745600-60747000	Enhancers	Stomach Mucosa	stomach
41	chr5:60745600-60747200	Enhancers	Fetal Muscle Leg	muscle
42	chr5:60745600-60747400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:60745800-60747000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:60745800-60747200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr5:60746000-60747000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:60746000-60759600	Weak transcription	Aorta	Aorta
47	chr5:60746200-60747600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:60746200-60747600	Enhancers	Osteobl	bone
49	chr5:60746200-60749200	Enhancers	Hela-S3	cervix
50	chr5:60746200-60749800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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