Variant report

Variant	rs1897447
Chromosome Location	chr8:130461485-130461486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10099692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10108830	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956477	0.84[MEX][hapmap]
rs11786929	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548661	0.80[MEX][hapmap]
rs12681011	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13259353	0.80[MEX][hapmap]
rs13269801	0.80[MEX][hapmap]
rs13281661	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1368139	0.84[MEX][hapmap]
rs1813473	0.80[MEX][hapmap]
rs1835842	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1897445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1897446	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35380634	0.95[ASN][1000 genomes]
rs4382436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845244	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs970451	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130451400-130462000	Weak transcription	Thymus	Thymus
2	chr8:130458800-130461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130458800-130463400	Enhancers	Dnd41	blood
4	chr8:130459400-130464600	Genic enhancers	K562	blood
5	chr8:130459400-130471800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:130459600-130461800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:130461000-130462400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:130461200-130462400	Enhancers	Fetal Thymus	thymus
9	chr8:130461200-130464000	Enhancers	Fetal Stomach	stomach
10	chr8:130461400-130462000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:130461400-130462200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:130461400-130462400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:130461400-130462400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:130461400-130462400	Enhancers	Fetal Muscle Leg	muscle
15	chr8:130461400-130463400	Enhancers	Fetal Heart	heart
16	chr8:130461400-130463600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:130461400-130463800	Enhancers	Stomach Smooth Muscle	stomach

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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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