Variant report

Variant	rs1977228
Chromosome Location	chr1:93273185-93273186
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	chr1:93271712..93273787-chr1:93276299..93278239,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10782944	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10874742	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11164821	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1467559	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1610319	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1929138	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1977225	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1977226	0.83[AFR][1000 genomes]
rs1977227	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1977229	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2025100	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2244005	0.86[EUR][1000 genomes]
rs2391179	0.86[EUR][1000 genomes]
rs2391193	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2774943	0.86[EUR][1000 genomes]
rs2989014	0.86[EUR][1000 genomes]
rs4240962	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847221	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4847222	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6604025	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6659942	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6687994	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7513624	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7527356	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7532731	0.83[ASN][1000 genomes]
rs7541829	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7543077	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7543112	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9662515	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	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	chr1:93270800-93273800	Weak transcription	HSMM	muscle
2	chr1:93271000-93273600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93271000-93273600	Weak transcription	NHLF	lung
4	chr1:93271000-93276000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:93271200-93273400	Weak transcription	HMEC	breast
6	chr1:93271200-93273600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:93271200-93273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:93271200-93273600	Weak transcription	HUVEC	blood vessel
9	chr1:93271800-93273400	Weak transcription	NHEK	skin
10	chr1:93271800-93273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:93271800-93273600	Weak transcription	Hela-S3	cervix
12	chr1:93271800-93273600	Weak transcription	NHDF-Ad	bronchial
13	chr1:93271800-93273800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:93271800-93276800	Weak transcription	K562	blood
15	chr1:93272200-93273600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:93272200-93273600	Weak transcription	Placenta	Placenta
17	chr1:93272200-93273600	Weak transcription	Osteobl	bone
18	chr1:93272400-93273800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:93272600-93276000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:93273000-93275000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:93273000-93275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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