Variant report

Variant	rs74133123
Chromosome Location	chr1:192952891-192952892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192944889..192949055-chr1:192952758..192955789,3	K562	blood:
2	chr1:192951052..192955546-chr1:192961394..192964923,5	K562	blood:
3	chr1:192951305..192952923-chr1:193027488..193029378,2	K562	blood:
4	chr1:192945670..192948268-chr1:192951433..192953649,3	K562	blood:

Variant related genes	Relation type
ENSG00000234473	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1339589	0.83[AMR][1000 genomes]
rs1612628	0.83[AMR][1000 genomes]
rs1618583	0.83[AMR][1000 genomes]
rs16835090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769068	0.83[AMR][1000 genomes]
rs1769070	0.83[AMR][1000 genomes]
rs1769071	0.83[AMR][1000 genomes]
rs2093603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2093604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486494	0.83[AMR][1000 genomes]
rs2486495	0.83[AMR][1000 genomes]
rs55986802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56085838	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57466067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58854175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189492	0.83[AMR][1000 genomes]
rs6661948	0.83[AMR][1000 genomes]
rs6669547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6697204	0.95[AFR][1000 genomes]
rs6697396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546076	0.83[AMR][1000 genomes]
rs7553594	0.83[AMR][1000 genomes]
rs9427563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427833	0.93[AFR][1000 genomes];1.00[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
3	chr1:192944000-192961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
6	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:192944400-192962800	Weak transcription	Osteobl	bone
8	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:192949200-192963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:192950000-192957200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:192950400-192962800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:192950600-192962600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:192950800-192954800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:192951600-192957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:192952000-192953600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:192952000-192962600	Weak transcription	Primary B cells from cord blood	blood
18	chr1:192952200-192953400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:192952200-192953400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:192952200-192957200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:192952200-192963400	Weak transcription	Thymus	Thymus
22	chr1:192952400-192953000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:192952400-192953200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:192952400-192953400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:192952400-192955000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:192952600-192953200	Enhancers	NHEK	skin
27	chr1:192952600-192953600	Enhancers	GM12878-XiMat	blood
28	chr1:192952600-192954800	Enhancers	K562	blood
29	chr1:192952800-192953200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:192952800-192955400	Weak transcription	Left Ventricle	heart

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