Variant report

Variant	rs4073915
Chromosome Location	chr11:18796480-18796481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12575115	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35763160	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4075663	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap]
rs4265582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56268487	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56295396	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121896	0.86[ASN][1000 genomes]
rs7129580	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4073915	MYOD1	cis	parietal	SCAN
rs4073915	PTPN5	cis	Nerve Tibial	GTEx
rs4073915	PTPN5	cis	Stomach	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18783000-18801800	Weak transcription	Spleen	Spleen
2	chr11:18784000-18808000	Weak transcription	Fetal Brain Female	brain
3	chr11:18790800-18811400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:18793600-18809000	Weak transcription	Brain Angular Gyrus	brain
5	chr11:18794600-18811800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:18795200-18801400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:18795400-18801400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:18795400-18804600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:18796000-18800400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:18796000-18800600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:18796000-18802000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:18796400-18812400	Weak transcription	Right Atrium	heart

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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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