Variant report

Variant	rs17373407
Chromosome Location	chr5:116143516-116143517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116141325..116143664-chr5:116165603..116167947,2	K562	blood:

Variant related genes	Relation type
ENSG00000249150	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10038214	0.98[ASN][1000 genomes]
rs10043156	1.00[ASN][1000 genomes]
rs10043756	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10056670	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478310	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13181946	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2133759	0.87[ASN][1000 genomes]
rs2133760	0.87[ASN][1000 genomes]
rs2913599	0.86[ASN][1000 genomes]
rs2913600	0.89[ASN][1000 genomes]
rs2913601	0.89[ASN][1000 genomes]
rs2913602	0.87[ASN][1000 genomes]
rs2913603	0.87[ASN][1000 genomes]
rs2937062	0.87[ASN][1000 genomes]
rs2937063	0.87[ASN][1000 genomes]
rs2937066	0.89[ASN][1000 genomes]
rs2937067	0.89[ASN][1000 genomes]
rs2937068	0.85[ASN][1000 genomes]
rs2937069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2937070	0.89[ASN][1000 genomes]
rs2964656	0.85[ASN][1000 genomes]
rs2964669	0.87[ASN][1000 genomes]
rs2964670	0.87[ASN][1000 genomes]
rs2964684	0.89[ASN][1000 genomes]
rs2964692	0.89[ASN][1000 genomes]
rs2964693	0.89[ASN][1000 genomes]
rs34953958	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62375232	1.00[ASN][1000 genomes]
rs725151	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72819519	1.00[ASN][1000 genomes]
rs7706563	0.98[ASN][1000 genomes]
rs9327021	1.00[ASN][1000 genomes]
rs9885302	0.86[EUR][1000 genomes];1.00[ASN][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	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1027701	chr5:116138286-116185586	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116143000-116143800	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:116143000-116145600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:116143000-116146000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:116143000-116146000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:116143000-116146000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:116143000-116146200	Weak transcription	HepG2	liver
7	chr5:116143200-116146200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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