Variant report

Variant	rs10940574
Chromosome Location	chr5:57015785-57015786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10447121	0.81[EUR][1000 genomes]
rs12514617	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12514618	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12515493	0.81[EUR][1000 genomes]
rs12517867	0.81[EUR][1000 genomes]
rs12520466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12522697	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12523004	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1544621	0.81[EUR][1000 genomes]
rs17689645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17689832	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2160057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2160058	0.81[EUR][1000 genomes]
rs2192367	0.83[EUR][1000 genomes]
rs2192368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2898027	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58610852	0.80[EUR][1000 genomes]
rs58632739	0.81[EUR][1000 genomes]
rs62358372	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62358381	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62361169	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6450432	0.81[EUR][1000 genomes]
rs6450433	0.81[EUR][1000 genomes]
rs6450434	0.81[EUR][1000 genomes]
rs6450435	0.81[EUR][1000 genomes]
rs6870485	0.83[EUR][1000 genomes]
rs6891648	0.81[EUR][1000 genomes]
rs6894116	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72767430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72767434	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72767441	0.82[EUR][1000 genomes]
rs72767444	0.81[EUR][1000 genomes]
rs741181	0.82[EUR][1000 genomes]
rs7718447	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57009800-57016400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:57009800-57016400	Weak transcription	Aorta	Aorta
3	chr5:57012400-57017800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:57012800-57020000	Weak transcription	NHEK	skin
5	chr5:57014200-57016200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:57014200-57016400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:57014200-57016600	Enhancers	A549	lung
8	chr5:57014400-57020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:57014600-57016000	Enhancers	HSMM	muscle
10	chr5:57014800-57019400	Weak transcription	NHLF	lung
11	chr5:57015000-57016400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:57015200-57016200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:57015200-57016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:57015200-57017200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:57015400-57016600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:57015400-57016600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:57015400-57020200	Weak transcription	NHDF-Ad	bronchial

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