Variant report

Variant	rs35748495
Chromosome Location	chr5:106552411-106552412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10515370	1.00[ASN][1000 genomes]
rs10515372	1.00[ASN][1000 genomes]
rs11948860	1.00[ASN][1000 genomes]
rs13163748	1.00[ASN][1000 genomes]
rs13165897	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13167605	1.00[ASN][1000 genomes]
rs13169680	1.00[ASN][1000 genomes]
rs13179809	1.00[ASN][1000 genomes]
rs13184636	1.00[ASN][1000 genomes]
rs13184643	1.00[ASN][1000 genomes]
rs13184806	1.00[ASN][1000 genomes]
rs13186418	1.00[ASN][1000 genomes]
rs17159641	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159727	1.00[ASN][1000 genomes]
rs17159745	1.00[ASN][1000 genomes]
rs17159751	1.00[ASN][1000 genomes]
rs17343335	1.00[ASN][1000 genomes]
rs17343762	1.00[ASN][1000 genomes]
rs17400404	1.00[ASN][1000 genomes]
rs17401032	0.81[AMR][1000 genomes]
rs17402238	1.00[ASN][1000 genomes]
rs17403350	1.00[ASN][1000 genomes]
rs1895462	1.00[ASN][1000 genomes]
rs35709847	1.00[ASN][1000 genomes]
rs35740714	1.00[ASN][1000 genomes]
rs35775035	1.00[ASN][1000 genomes]
rs55849939	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56283997	1.00[ASN][1000 genomes]
rs60635486	1.00[ASN][1000 genomes]
rs66460437	1.00[ASN][1000 genomes]
rs67504033	1.00[ASN][1000 genomes]
rs6897756	1.00[ASN][1000 genomes]
rs72784111	1.00[ASN][1000 genomes]
rs72784113	1.00[ASN][1000 genomes]
rs765075	1.00[ASN][1000 genomes]
rs7701101	1.00[ASN][1000 genomes]
rs7711216	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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv882680	chr5:106493350-106573961	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882681	chr5:106508913-106573961	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106547800-106553200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:106551000-106554600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:106551000-106555000	Enhancers	NHEK	skin
4	chr5:106551200-106554200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:106551200-106555200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:106551400-106554800	Enhancers	Fetal Heart	heart
7	chr5:106551400-106555200	Enhancers	HMEC	breast
8	chr5:106551600-106552800	Enhancers	Psoas Muscle	Psoas
9	chr5:106551600-106555400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:106551800-106553000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:106551800-106553200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:106551800-106557200	Weak transcription	Right Ventricle	heart
13	chr5:106552000-106553200	Weak transcription	HUVEC	blood vessel
14	chr5:106552000-106553400	Weak transcription	HSMM	muscle
15	chr5:106552400-106552600	Enhancers	Esophagus	oesophagus
16	chr5:106552400-106552600	Enhancers	Lung	lung
17	chr5:106552400-106553800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:106552400-106554000	Enhancers	Fetal Muscle Leg	muscle
19	chr5:106552400-106554200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:106552400-106554800	Enhancers	Aorta	Aorta

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