Variant report

Variant	rs1197310
Chromosome Location	chr3:133128224-133128225
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1197311	0.87[JPT][hapmap]
rs1197312	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1197314	0.80[AMR][1000 genomes]
rs502538	0.81[EUR][1000 genomes]
rs517255	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs553211	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs652273	0.92[CHB][hapmap];0.96[JPT][hapmap];0.89[ASN][1000 genomes]
rs666067	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs679749	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877504	chr3:133122216-133172374	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133104400-133131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:133122800-133129400	Weak transcription	Fetal Lung	lung
3	chr3:133123000-133131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:133123800-133131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:133124000-133132000	Weak transcription	Brain Substantia Nigra	brain
6	chr3:133124600-133138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:133125400-133131400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:133127000-133128400	Enhancers	Osteobl	bone
9	chr3:133127000-133128800	Enhancers	HSMM	muscle
10	chr3:133127000-133128800	Enhancers	NHDF-Ad	bronchial
11	chr3:133127200-133128400	Enhancers	NH-A	brain
12	chr3:133127200-133128600	Enhancers	HSMMtube	muscle
13	chr3:133127400-133128400	Enhancers	NHLF	lung
14	chr3:133127800-133128400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:133127800-133128600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:133128000-133129800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:133128200-133130400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:133128200-133131600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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