Variant report

Variant	rs72786500
Chromosome Location	chr5:126686583-126686584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11746512	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165041	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673147	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673170	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839696	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918025	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096254	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144110	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786494	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788505	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788513	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
2	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126668000-126687200	Weak transcription	HSMM	muscle
4	chr5:126674200-126688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:126675800-126687400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:126677000-126690200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126678600-126688400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:126678800-126690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:126679200-126690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:126679200-126694000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:126679800-126687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:126679800-126687400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:126679800-126688200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:126680000-126688400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:126681200-126687400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:126681200-126688400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:126681400-126693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:126681800-126693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:126681800-126693600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:126682000-126687200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:126682000-126688200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:126682200-126689000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:126685600-126689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:126686200-126687400	Weak transcription	HSMMtube	muscle
25	chr5:126686400-126687200	Weak transcription	Brain Hippocampus Middle	brain

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