Variant report

Variant	rs72869702
Chromosome Location	chr2:150978515-150978516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497043	0.85[ASN][1000 genomes]
rs11690111	0.85[ASN][1000 genomes]
rs11903537	0.98[EUR][1000 genomes]
rs1515917	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17349160	0.98[EUR][1000 genomes]
rs17349216	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66854919	0.85[ASN][1000 genomes]
rs67082067	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67402538	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68028498	0.85[ASN][1000 genomes]
rs68172038	0.85[ASN][1000 genomes]
rs72871227	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv875285	chr2:150904671-150985765	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:150976200-150978600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:150977400-150980000	Enhancers	Fetal Lung	lung
3	chr2:150977400-150981200	Weak transcription	NHLF	lung
4	chr2:150977400-150982200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:150977400-150982200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:150977600-150981600	Weak transcription	Liver	Liver
7	chr2:150977600-150982000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:150977600-150982200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:150977800-150978800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:150977800-150982000	Enhancers	A549	lung
11	chr2:150977800-150990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:150978000-150979400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:150978000-150982200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:150978000-150982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:150978200-150979400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:150978200-150979400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:150978200-150982200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:150978200-150982200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:150978400-150982200	Weak transcription	Brain Germinal Matrix	brain

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

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