Variant report

Variant	rs162175
Chromosome Location	chr14:81283057-81283058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1197475	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162176	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1674557	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs189012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs228117	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs228123	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2556602	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs327430	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327438	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327444	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327445	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327448	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327449	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327453	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs327455	1.00[AMR][1000 genomes]
rs327461	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327466	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327478	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327479	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327480	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs328253	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs442359	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60529658	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6574590	1.00[AMR][1000 genomes]
rs7141981	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149056	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8005704	1.00[AMR][1000 genomes]
rs8022471	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81265600-81284400	Weak transcription	Fetal Thymus	thymus
3	chr14:81267400-81284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81267400-81284800	Weak transcription	HSMM	muscle
5	chr14:81269600-81284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:81272200-81284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:81273400-81284400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:81275200-81283400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:81275200-81284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81275200-81284400	Weak transcription	Thymus	Thymus
11	chr14:81277600-81284600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:81279000-81284000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:81279200-81284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:81280000-81284200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:81280200-81284600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:81281000-81284200	Strong transcription	Dnd41	blood
17	chr14:81281200-81284400	Weak transcription	Ovary	ovary
18	chr14:81281600-81304200	Weak transcription	Primary T cells from cord blood	blood
19	chr14:81281800-81284400	Weak transcription	Left Ventricle	heart
20	chr14:81282400-81284200	Weak transcription	Adipose Nuclei	Adipose
21	chr14:81282600-81283200	ZNF genes & repeats	A549	lung
22	chr14:81282600-81283600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81282600-81285600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81282800-81283200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:81282800-81290000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:81283000-81288800	Weak transcription	Aorta	Aorta

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