Variant report

Variant	rs73097478
Chromosome Location	chr1:221203131-221203132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221198413..221201071-chr1:221201532..221205401,3	K562	blood:
2	chr1:221200117..221203706-chr1:221205688..221208505,3	K562	blood:
3	chr1:221195483..221198184-chr1:221201736..221204550,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17009202	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009291	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4587571	0.92[EUR][1000 genomes]
rs57878357	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58324444	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58487387	0.92[EUR][1000 genomes]
rs60162378	0.92[EUR][1000 genomes]
rs60523812	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60688199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60884344	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693203	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097456	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73097461	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097476	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097479	1.00[EUR][1000 genomes]
rs7515981	0.92[EUR][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:21 , 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	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:221200000-221204200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:221202000-221205200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:221202200-221205400	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:221202400-221203200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:221202400-221205000	Enhancers	Fetal Stomach	stomach
12	chr1:221203000-221203400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:221203000-221203400	Enhancers	Fetal Intestine Large	intestine
14	chr1:221203000-221203400	Enhancers	Fetal Muscle Leg	muscle
15	chr1:221203000-221203400	Enhancers	Left Ventricle	heart
16	chr1:221203000-221203600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:221203000-221203600	Enhancers	Fetal Kidney	kidney
18	chr1:221203000-221203600	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:221203000-221203800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:221203000-221204200	Enhancers	Fetal Lung	lung
21	chr1:221203000-221204400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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