Variant report

Variant	rs10494215
Chromosome Location	chr1:119424955-119424956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494216	1.00[ASN][1000 genomes]
rs1361208	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1361209	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1416142	1.00[ASN][1000 genomes]
rs17022627	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17022643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17022660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022688	1.00[ASN][1000 genomes]
rs4623744	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55907232	1.00[ASN][1000 genomes]
rs56176006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56809525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56957037	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58656176	1.00[ASN][1000 genomes]
rs58907106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59731249	1.00[ASN][1000 genomes]
rs6655966	1.00[ASN][1000 genomes]
rs6660769	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6665851	1.00[ASN][1000 genomes]
rs73005657	1.00[ASN][1000 genomes]
rs73007524	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73007529	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73007534	1.00[ASN][1000 genomes]
rs74114542	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74114545	1.00[AMR][1000 genomes]
rs7532756	1.00[ASN][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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119414800-119429400	Weak transcription	Psoas Muscle	Psoas
2	chr1:119419600-119429200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:119421600-119426000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:119422000-119425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:119423200-119426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:119424000-119426200	Weak transcription	NHDF-Ad	bronchial
7	chr1:119424200-119429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:119424400-119425000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:119424400-119434400	Strong transcription	Fetal Muscle Leg	muscle
10	chr1:119424600-119425000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:119424600-119425400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:119424600-119425400	Genic enhancers	HSMMtube	muscle
13	chr1:119424600-119425600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:119424600-119433600	Strong transcription	Osteobl	bone
15	chr1:119424600-119434200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:119424800-119425400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:119424800-119425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:119424800-119426600	Strong transcription	Adipose Nuclei	Adipose
19	chr1:119424800-119430200	Strong transcription	Liver	Liver

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