Variant report

Variant	rs2065711
Chromosome Location	chr1:94476695-94476696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11165062	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs11165063	0.88[AFR][1000 genomes]
rs17110808	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs1800739	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1801574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275029	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2275031	0.92[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2275032	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2893264	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789377	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789379	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789382	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789383	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789384	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3789385	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3789386	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4147856	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147857	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs537831	0.82[EUR][1000 genomes]
rs55694362	0.85[AFR][1000 genomes]
rs56166161	0.85[AFR][1000 genomes]
rs61782237	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531001	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[ASN][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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv546849	chr1:94472814-94477232	Bivalent Enhancer Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94458800-94477000	Weak transcription	Right Atrium	heart
2	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:94475400-94477400	Weak transcription	Osteobl	bone
4	chr1:94475400-94485600	Weak transcription	NH-A	brain
5	chr1:94475600-94478200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:94476200-94476800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:94476200-94477400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:94476200-94477600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:94476400-94479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:94476400-94479200	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:94476400-94479400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:94476400-94480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:94476600-94479400	Enhancers	Placenta	Placenta
14	chr1:94476600-94479600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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