Variant report

Variant	rs1813473
Chromosome Location	chr8:130422403-130422404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10099692	0.80[MEX][hapmap]
rs10956477	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781612	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12543679	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12548661	0.97[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13259353	0.83[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262640	0.84[EUR][1000 genomes]
rs13269801	0.97[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs1368139	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904062	0.95[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904064	0.95[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1897447	0.80[MEX][hapmap]
rs28759297	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35938360	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523717	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs970451	0.84[MEX][hapmap]
rs985687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv968553	chr8:130416069-130423976	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1813473	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130416800-130426600	Strong transcription	K562	blood
3	chr8:130418800-130424000	Weak transcription	Dnd41	blood
4	chr8:130419200-130423400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130419600-130423600	Weak transcription	Fetal Stomach	stomach
6	chr8:130419800-130423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:130419800-130423600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:130419800-130425800	Weak transcription	Fetal Thymus	thymus
9	chr8:130419800-130427000	Weak transcription	Thymus	Thymus
10	chr8:130420000-130424000	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:130421600-130423600	Weak transcription	Fetal Heart	heart
12	chr8:130422400-130422600	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:130422400-130422800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:130422400-130423400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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