Variant report

Variant	rs12083681
Chromosome Location	chr1:220468672-220468673
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:8)

rs_ID	r²[population]
rs11118515	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12067541	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12087896	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12093982	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12097735	0.84[ASN][1000 genomes]
rs17565835	0.87[EUR][1000 genomes]
rs1912813	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs925445	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220464200-220470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:220464600-220471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:220464600-220471600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:220465200-220472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:220467200-220469200	Enhancers	NHDF-Ad	bronchial
8	chr1:220467400-220471200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:220467400-220472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:220468400-220471200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:220468400-220471400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:220468400-220473600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:220468600-220469600	Weak transcription	Osteobl	bone
14	chr1:220468600-220470400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:220468600-220471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:220468600-220473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:220468600-220473400	Weak transcription	NH-A	brain
18	chr1:220468600-220473600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:220468600-220473600	Weak transcription	Fetal Stomach	stomach

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Input of quick search could be:

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

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