Variant report

Variant	rs72759098
Chromosome Location	chr1:226397331-226397332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1043641	0.87[EUR][1000 genomes]
rs10495243	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12402078	0.89[EUR][1000 genomes]
rs41357249	0.87[AMR][1000 genomes]
rs56381945	0.86[EUR][1000 genomes]
rs58322813	0.89[EUR][1000 genomes]
rs58416350	0.89[EUR][1000 genomes]
rs66520928	0.91[EUR][1000 genomes]
rs66527714	0.81[AMR][1000 genomes]
rs67431141	0.89[EUR][1000 genomes]
rs67696165	0.89[EUR][1000 genomes]
rs72759068	0.89[EUR][1000 genomes]
rs72759069	0.89[EUR][1000 genomes]
rs72759091	0.85[AMR][1000 genomes]
rs9659181	0.87[AMR][1000 genomes]
rs9659809	0.87[EUR][1000 genomes]
rs9662238	0.89[EUR][1000 genomes]
rs9727021	0.89[EUR][1000 genomes]
rs9727329	0.89[EUR][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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226394800-226402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:226395000-226398000	Weak transcription	Spleen	Spleen
4	chr1:226395800-226397600	Bivalent Enhancer	HepG2	liver
5	chr1:226396200-226399600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:226396400-226397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:226396800-226397400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:226397000-226397400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:226397000-226397600	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:226397000-226397600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:226397000-226399200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:226397200-226397400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr1:226397200-226397400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:226397200-226397400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:226397200-226397600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:226397200-226399200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:226397200-226399400	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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