Variant report

Variant	rs1597897
Chromosome Location	chr4:86223861-86223862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11097049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11728060	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12502364	0.81[EUR][1000 genomes]
rs1453065	0.81[EUR][1000 genomes]
rs1453066	0.81[EUR][1000 genomes]
rs1453067	0.81[EUR][1000 genomes]
rs1453068	0.81[EUR][1000 genomes]
rs1901752	0.99[ASN][1000 genomes]
rs2869282	0.86[MEX][hapmap]
rs6531814	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6830662	0.82[EUR][1000 genomes]
rs6838954	0.81[EUR][1000 genomes]
rs6853645	0.82[EUR][1000 genomes]
rs715751	0.82[EUR][1000 genomes]
rs7688124	0.82[EUR][1000 genomes]
rs7688707	0.82[EUR][1000 genomes]
rs7689227	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3367963	chr4:85911017-86246036	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv427685	chr4:86032872-86340548	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:86222800-86224600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:86223400-86224600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:86223400-86224600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:86223400-86226200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:86223600-86224000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:86223600-86224000	Enhancers	HSMMtube	muscle
7	chr4:86223600-86224200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:86223600-86224200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:86223600-86224200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:86223600-86224400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:86223600-86224600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:86223600-86226200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:86223800-86224000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:86223800-86224000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:86223800-86224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:86223800-86224400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:86223800-86224400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:86223800-86226400	Enhancers	Brain Germinal Matrix	brain

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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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