Variant report

Variant	rs72993373
Chromosome Location	chr1:154844227-154844228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12059540	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063335	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067954	1.00[EUR][1000 genomes]
rs60537431	1.00[EUR][1000 genomes]
rs6692661	1.00[EUR][1000 genomes]
rs72993366	1.00[EUR][1000 genomes]
rs72993369	1.00[EUR][1000 genomes]
rs72993370	1.00[EUR][1000 genomes]
rs72993374	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993402	0.85[EUR][1000 genomes]
rs72995417	1.00[EUR][1000 genomes]
rs72995418	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:154843200-154844400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:154843200-154844400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:154843200-154844400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:154843200-154844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:154843200-154844400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:154843200-154845400	Weak transcription	K562	blood
7	chr1:154843200-154849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:154843200-154850800	Weak transcription	Ovary	ovary
9	chr1:154843200-154854200	Weak transcription	Fetal Kidney	kidney
10	chr1:154843200-154854200	Weak transcription	Right Atrium	heart
11	chr1:154843400-154845200	Weak transcription	Pancreas	Pancrea
12	chr1:154843400-154849800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:154843600-154844400	Enhancers	GM12878-XiMat	blood
14	chr1:154843800-154844400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:154843800-154849400	Weak transcription	A549	lung
16	chr1:154844000-154849600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:154844000-154850200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:154844200-154844400	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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