Variant report

Variant	rs17022688
Chromosome Location	chr1:119431448-119431449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119430859..119432838-chr1:119435436..119438177,2	K562	blood:
2	chr1:119429635..119431905-chr1:119544263..119546564,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10494215	1.00[ASN][1000 genomes]
rs10494216	1.00[ASN][1000 genomes]
rs1361208	1.00[ASN][1000 genomes]
rs1361209	1.00[ASN][1000 genomes]
rs1416142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17022627	1.00[ASN][1000 genomes]
rs17022643	1.00[ASN][1000 genomes]
rs17022701	0.87[AMR][1000 genomes]
rs17022710	0.87[AMR][1000 genomes]
rs17022715	0.87[AMR][1000 genomes]
rs4623744	1.00[ASN][1000 genomes]
rs55907232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56176006	1.00[ASN][1000 genomes]
rs56809525	1.00[ASN][1000 genomes]
rs56957037	1.00[ASN][1000 genomes]
rs58656176	1.00[ASN][1000 genomes]
rs58907106	1.00[ASN][1000 genomes]
rs59731249	1.00[ASN][1000 genomes]
rs6655966	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6660769	1.00[ASN][1000 genomes]
rs6665851	1.00[ASN][1000 genomes]
rs73005657	1.00[ASN][1000 genomes]
rs73007524	1.00[ASN][1000 genomes]
rs73007529	1.00[ASN][1000 genomes]
rs73007534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74114542	1.00[ASN][1000 genomes]
rs7532756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119424400-119434400	Strong transcription	Fetal Muscle Leg	muscle
2	chr1:119424600-119433600	Strong transcription	Osteobl	bone
3	chr1:119424600-119434200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr1:119425000-119433000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:119425200-119445000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:119425400-119433200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:119425400-119435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:119425800-119433000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:119427000-119433200	Strong transcription	Adipose Nuclei	Adipose
10	chr1:119427800-119432800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:119428000-119433600	Weak transcription	NHDF-Ad	bronchial
12	chr1:119428000-119436600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:119428200-119432000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:119428200-119449800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:119429400-119490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:119429800-119441000	Weak transcription	Psoas Muscle	Psoas
17	chr1:119430000-119436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:119430600-119433600	Strong transcription	HSMM	muscle
19	chr1:119431000-119431600	Strong transcription	HSMMtube	muscle
20	chr1:119431000-119437200	Weak transcription	Liver	Liver
21	chr1:119431400-119437200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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