Variant report

Variant	rs6449530
Chromosome Location	chr5:60670192-60670193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10041978	0.85[ASN][1000 genomes]
rs1045352	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs10939900	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939901	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939902	0.98[ASN][1000 genomes]
rs10939903	0.85[ASN][1000 genomes]
rs11743711	0.87[ASN][1000 genomes]
rs11749200	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11750589	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11950318	0.83[ASN][1000 genomes]
rs11952146	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs11954430	0.81[ASN][1000 genomes]
rs12187112	0.93[ASN][1000 genomes]
rs12188627	0.92[ASN][1000 genomes]
rs12189001	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12518479	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522647	0.85[ASN][1000 genomes]
rs13157657	0.81[ASN][1000 genomes]
rs13158675	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13160801	0.81[ASN][1000 genomes]
rs13162358	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13163970	0.81[ASN][1000 genomes]
rs13169711	0.99[ASN][1000 genomes]
rs13170135	0.96[ASN][1000 genomes]
rs13170262	0.81[ASN][1000 genomes]
rs13171757	0.87[ASN][1000 genomes]
rs13172080	0.81[ASN][1000 genomes]
rs13172084	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs13178686	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13181015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13186194	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs13188327	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1348716	0.81[ASN][1000 genomes]
rs1374043	0.81[ASN][1000 genomes]
rs1445979	0.85[ASN][1000 genomes]
rs1477355	0.85[ASN][1000 genomes]
rs1986252	0.81[ASN][1000 genomes]
rs2276987	0.94[JPT][hapmap]
rs28610339	0.98[ASN][1000 genomes]
rs34739794	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35262187	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4276369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4392578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4484384	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4604142	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs5027472	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56035042	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60529601	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60886975	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62368660	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449526	0.81[GIH][hapmap];0.91[MEX][hapmap]
rs6449527	0.81[CEU][hapmap];0.92[MEX][hapmap]
rs6449528	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6449529	0.99[ASN][1000 genomes]
rs6449531	0.98[ASN][1000 genomes]
rs6449532	0.98[ASN][1000 genomes]
rs6449533	0.98[ASN][1000 genomes]
rs6449535	0.85[ASN][1000 genomes]
rs6860608	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873712	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6877610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878927	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs6879809	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6881765	1.00[ASW][hapmap];0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6885005	0.98[ASN][1000 genomes]
rs6890351	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6894675	0.98[ASN][1000 genomes]
rs6895046	0.81[ASN][1000 genomes]
rs7700289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7701440	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7709645	0.98[ASN][1000 genomes]
rs7714457	0.81[ASN][1000 genomes]
rs7714712	0.98[ASN][1000 genomes]
rs7717082	0.81[ASN][1000 genomes]
rs7719647	0.81[ASN][1000 genomes]
rs7722810	0.86[ASN][1000 genomes]
rs7724551	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7727824	0.98[ASN][1000 genomes]
rs7734879	0.98[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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6449530	ERCC8	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60653800-60681200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:60654000-60681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:60657600-60676400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:60658200-60674400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:60658800-60686600	Weak transcription	Fetal Stomach	stomach
6	chr5:60659000-60674600	Weak transcription	Pancreas	Pancrea
7	chr5:60659000-60681600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:60659000-60703800	Weak transcription	Primary B cells from cord blood	blood
9	chr5:60659200-60686600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:60659400-60703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:60659600-60670800	Weak transcription	Fetal Brain Male	brain
12	chr5:60659600-60697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:60660200-60681600	Weak transcription	HSMM	muscle
14	chr5:60661800-60686800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:60662200-60686800	Weak transcription	NHLF	lung
16	chr5:60663200-60686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:60663400-60677400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:60663400-60690000	Weak transcription	Psoas Muscle	Psoas
19	chr5:60664800-60674600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:60665400-60673400	Weak transcription	Ovary	ovary
21	chr5:60665400-60686800	Weak transcription	Aorta	Aorta
22	chr5:60665600-60673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:60665600-60681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:60666800-60676800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:60667400-60671000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:60667600-60670400	Weak transcription	Fetal Intestine Large	intestine
27	chr5:60667600-60674400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:60667600-60675400	Weak transcription	A549	lung
29	chr5:60667600-60681600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:60667800-60689800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:60667800-60689800	Weak transcription	NHEK	skin
32	chr5:60668200-60675000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:60668400-60674800	Weak transcription	Brain Anterior Caudate	brain
34	chr5:60668400-60675000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:60668400-60675800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:60668600-60680800	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:60668600-60681400	Weak transcription	Fetal Intestine Small	intestine
38	chr5:60669200-60673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:60669400-60670200	Enhancers	NHDF-Ad	bronchial

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