Variant report

Variant	rs73703952
Chromosome Location	chr8:125123659-125123660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10087218	1.00[AMR][1000 genomes]
rs10096401	1.00[AMR][1000 genomes]
rs10106517	1.00[AMR][1000 genomes]
rs10107906	1.00[AMR][1000 genomes]
rs10108094	1.00[AMR][1000 genomes]
rs10111932	1.00[AMR][1000 genomes]
rs28630423	1.00[AMR][1000 genomes]
rs28665503	1.00[AMR][1000 genomes]
rs56810274	1.00[AMR][1000 genomes]
rs56813553	1.00[AMR][1000 genomes]
rs57265559	1.00[AMR][1000 genomes]
rs57874567	1.00[AMR][1000 genomes]
rs58562578	1.00[AMR][1000 genomes]
rs59645347	1.00[AMR][1000 genomes]
rs60486597	1.00[AMR][1000 genomes]
rs60939722	1.00[AMR][1000 genomes]
rs6995628	1.00[AMR][1000 genomes]
rs73330123	1.00[AMR][1000 genomes]
rs73330135	1.00[AMR][1000 genomes]
rs73330139	1.00[AMR][1000 genomes]
rs73330144	1.00[AMR][1000 genomes]
rs73330146	1.00[AMR][1000 genomes]
rs73330149	1.00[AMR][1000 genomes]
rs73330154	1.00[AMR][1000 genomes]
rs73330160	1.00[AMR][1000 genomes]
rs73330174	1.00[AMR][1000 genomes]
rs73330176	1.00[AMR][1000 genomes]
rs73330180	1.00[AMR][1000 genomes]
rs73330182	1.00[AMR][1000 genomes]
rs73703917	1.00[AMR][1000 genomes]
rs73703924	1.00[AMR][1000 genomes]
rs73703927	1.00[AMR][1000 genomes]
rs73703947	1.00[AMR][1000 genomes]
rs73703950	1.00[AMR][1000 genomes]
rs73703951	1.00[AMR][1000 genomes]
rs73703953	1.00[AMR][1000 genomes]
rs73703958	1.00[AMR][1000 genomes]
rs7817061	1.00[AMR][1000 genomes]
rs7817244	1.00[AMR][1000 genomes]
rs7835106	1.00[AMR][1000 genomes]
rs7839666	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125100800-125124600	Weak transcription	Gastric	stomach
2	chr8:125117600-125124200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125119400-125124600	Enhancers	Fetal Intestine Small	intestine
4	chr8:125119600-125129400	Enhancers	Fetal Heart	heart
5	chr8:125119800-125124800	Enhancers	Fetal Intestine Large	intestine
6	chr8:125121600-125123800	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:125121800-125142000	Weak transcription	Stomach Mucosa	stomach
8	chr8:125122000-125124200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:125122200-125124200	Weak transcription	Fetal Stomach	stomach
10	chr8:125122400-125124000	Weak transcription	Left Ventricle	heart
11	chr8:125122400-125124200	Weak transcription	K562	blood
12	chr8:125122800-125124200	Weak transcription	Right Ventricle	heart
13	chr8:125123200-125124200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:125123400-125123800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:125123600-125123800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:125123600-125124400	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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