Variant report

Variant	rs17573664
Chromosome Location	chr1:221199286-221199287
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221198413..221201071-chr1:221201532..221205401,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489958	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009209	1.00[ASN][1000 genomes]
rs17009253	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36116663	1.00[ASN][1000 genomes]
rs41353047	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73097462	1.00[ASN][1000 genomes]
rs7515981	1.00[ASN][1000 genomes]
rs7536397	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546426	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221194400-221205600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:221196400-221206600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:221196600-221205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:221196800-221204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:221196800-221205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:221198200-221199800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:221198400-221199600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:221198400-221200000	Enhancers	Primary B cells from cord blood	blood
9	chr1:221198600-221199400	Enhancers	Colon Smooth Muscle	Colon
10	chr1:221198600-221199600	Enhancers	Adipose Nuclei	Adipose
11	chr1:221198800-221199400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:221198800-221199400	Enhancers	NHDF-Ad	bronchial
13	chr1:221198800-221199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:221198800-221199600	Enhancers	Psoas Muscle	Psoas
15	chr1:221198800-221199800	Enhancers	Left Ventricle	heart
16	chr1:221199000-221199400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:221199000-221199400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:221199000-221200400	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:221199200-221199600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:221199200-221203000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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