Variant report

Variant	rs55634563
Chromosome Location	chr1:70605061-70605062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17131212	0.84[AMR][1000 genomes]
rs17131223	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357463	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28537484	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738119	0.84[AMR][1000 genomes]
rs3767209	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3767210	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs3767211	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41287888	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs487613	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55782523	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55970826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56200611	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61784297	0.84[AMR][1000 genomes]
rs61784315	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784317	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784318	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61785271	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61785280	0.83[AMR][1000 genomes]
rs6678316	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696040	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7518536	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9970462	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9970998	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv1796744	chr1:70604106-70621290	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70596800-70609200	Weak transcription	Liver	Liver
2	chr1:70599000-70606000	Weak transcription	Osteobl	bone
3	chr1:70599000-70606600	Weak transcription	K562	blood
4	chr1:70599000-70609600	Weak transcription	GM12878-XiMat	blood
5	chr1:70600200-70605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:70600200-70606000	Weak transcription	Aorta	Aorta
7	chr1:70600400-70605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:70600400-70605600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:70600400-70605800	Weak transcription	NHDF-Ad	bronchial
10	chr1:70600600-70605200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:70600600-70605200	Weak transcription	Fetal Heart	heart
12	chr1:70601000-70615400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:70601000-70643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:70601200-70605400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:70601200-70606000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:70601200-70606200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:70601800-70605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:70603000-70605200	Weak transcription	Psoas Muscle	Psoas
20	chr1:70603000-70614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:70603400-70648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:70603600-70605200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:70604600-70605600	Enhancers	Fetal Brain Female	brain
24	chr1:70604600-70608600	Enhancers	Fetal Lung	lung
25	chr1:70604800-70605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:70604800-70606400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:70605000-70605200	Active TSS	Primary B cells from cord blood	blood
28	chr1:70605000-70605200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:70605000-70605200	Flanking Active TSS	Fetal Brain Male	brain
30	chr1:70605000-70605200	Enhancers	Skeletal Muscle Female	skeletal muscle

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