Variant report

Variant	rs1391649
Chromosome Location	chr5:58376006-58376007
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10061553	0.84[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11739293	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654005	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13178315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1353749	0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28555377	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2910642	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968009	0.88[CEU][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs929820	0.87[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1391649	C5orf35	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58375200-58376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:58375200-58376400	Enhancers	Hela-S3	cervix
3	chr5:58375400-58376600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:58375400-58376600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:58375400-58376600	Enhancers	NHEK	skin
6	chr5:58375600-58376200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:58375600-58376200	Enhancers	Right Ventricle	heart
8	chr5:58375600-58376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:58375600-58376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:58375600-58376400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:58375600-58376400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:58375600-58376400	Enhancers	Right Atrium	heart
13	chr5:58375600-58376400	Enhancers	HepG2	liver
14	chr5:58375600-58376400	Enhancers	HMEC	breast
15	chr5:58375600-58376400	Enhancers	NH-A	brain
16	chr5:58375600-58376400	Enhancers	NHDF-Ad	bronchial
17	chr5:58375600-58376400	Enhancers	Osteobl	bone
18	chr5:58375600-58376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:58375600-58376600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:58375600-58376600	Enhancers	HUVEC	blood vessel
21	chr5:58375600-58376600	Enhancers	NHLF	lung
22	chr5:58375600-58376800	Enhancers	HSMM	muscle
23	chr5:58375800-58376200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:58375800-58376200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:58375800-58376200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:58375800-58376200	Enhancers	Pancreas	Pancrea
27	chr5:58375800-58376400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:58375800-58376400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:58375800-58376400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:58375800-58376400	Enhancers	Fetal Kidney	kidney
31	chr5:58375800-58376400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:58375800-58376400	Flanking Active TSS	A549	lung
33	chr5:58375800-58376600	Enhancers	Colon Smooth Muscle	Colon
34	chr5:58375800-58376600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr5:58375800-58376600	Enhancers	Fetal Heart	heart
36	chr5:58375800-58376600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:58375800-58376600	Enhancers	Rectal Smooth Muscle	rectum
38	chr5:58376000-58376200	Enhancers	Fetal Lung	lung
39	chr5:58376000-58376400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:58376000-58376400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:58376000-58376400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:58376000-58376400	Enhancers	HSMMtube	muscle

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