Variant report

Variant	rs13181015
Chromosome Location	chr5:60655844-60655845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60650164..60651783-chr5:60654233..60656069,2	MCF-7	breast:
2	chr5:60635270..60637108-chr5:60652911..60655851,2	K562	blood:
3	chr5:60654569..60656618-chr5:60657774..60659845,3	MCF-7	breast:
4	chr5:60626176..60629412-chr5:60655211..60657702,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 83 )
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	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];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939901	0.90[AMR][1000 genomes];0.93[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	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950318	0.83[ASN][1000 genomes]
rs11952146	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs11954430	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12187112	0.93[ASN][1000 genomes]
rs12188627	0.92[ASN][1000 genomes]
rs12189001	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12518479	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522647	0.85[ASN][1000 genomes]
rs13157657	0.81[ASN][1000 genomes]
rs13158675	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13160801	0.81[ASN][1000 genomes]
rs13162358	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[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	0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13186194	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs13188327	0.92[AMR][1000 genomes];0.93[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	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35262187	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4276369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4392578	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4484384	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[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	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56035042	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60529601	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60886975	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62368660	0.94[AMR][1000 genomes];0.88[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]
rs6449530	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]
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	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];0.92[AMR][1000 genomes];0.93[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];0.92[AMR][1000 genomes];0.93[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	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.92[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	0.96[AMR][1000 genomes];0.93[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:3 , 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
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13181015	ERCC8	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60638400-60665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:60640400-60665600	Weak transcription	Gastric	stomach
3	chr5:60640600-60658400	Weak transcription	Fetal Brain Female	brain
4	chr5:60640600-60658400	Weak transcription	NHLF	lung
5	chr5:60641600-60667400	Weak transcription	Fetal Kidney	kidney
6	chr5:60643200-60658400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:60643400-60660800	Weak transcription	Esophagus	oesophagus
8	chr5:60643400-60663200	Weak transcription	Spleen	Spleen
9	chr5:60646600-60658400	Weak transcription	HSMMtube	muscle
10	chr5:60648000-60658400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:60648200-60658200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:60648200-60664600	Weak transcription	Aorta	Aorta
13	chr5:60649000-60666400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:60649200-60656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:60649400-60664400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:60650000-60658200	Weak transcription	Psoas Muscle	Psoas
17	chr5:60650000-60658400	Weak transcription	Right Ventricle	heart
18	chr5:60650000-60659000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:60650000-60664600	Weak transcription	Ovary	ovary
20	chr5:60650600-60656000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:60653200-60658400	Weak transcription	NHDF-Ad	bronchial
22	chr5:60653400-60657600	Weak transcription	Primary B cells from cord blood	blood
23	chr5:60653400-60658000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:60653400-60658400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:60653400-60658400	Weak transcription	Osteobl	bone
26	chr5:60653400-60659000	Weak transcription	Adipose Nuclei	Adipose
27	chr5:60653400-60667200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:60653600-60656800	Weak transcription	HUVEC	blood vessel
29	chr5:60653600-60657200	Weak transcription	NH-A	brain
30	chr5:60653600-60657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:60653600-60666800	Weak transcription	NHEK	skin
32	chr5:60653600-60667400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:60653800-60656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:60653800-60681200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:60654000-60656600	Weak transcription	A549	lung
36	chr5:60654000-60667400	Weak transcription	Hela-S3	cervix
37	chr5:60654000-60681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:60654200-60658400	Weak transcription	HSMM	muscle
39	chr5:60654200-60664800	Weak transcription	Brain Germinal Matrix	brain
40	chr5:60654600-60656000	Enhancers	Left Ventricle	heart
41	chr5:60654600-60659400	Enhancers	Brain Substantia Nigra	brain
42	chr5:60654800-60656400	Enhancers	Brain Hippocampus Middle	brain
43	chr5:60654800-60657200	Weak transcription	Thymus	Thymus
44	chr5:60654800-60658400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:60654800-60664800	Weak transcription	Primary T cells from cord blood	blood
46	chr5:60655000-60657000	Weak transcription	Fetal Heart	heart
47	chr5:60655000-60657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:60655000-60662400	Weak transcription	Stomach Mucosa	stomach
49	chr5:60655200-60656200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr5:60655200-60658000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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