Variant report

Variant	rs10803857
Chromosome Location	chr2:172120203-172120204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10930463	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685357	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11690059	0.89[ASN][1000 genomes]
rs12611999	0.83[ASN][1000 genomes]
rs1319152	0.96[ASN][1000 genomes]
rs1477181	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1861770	0.98[ASN][1000 genomes]
rs2111461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4667681	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433286	0.96[ASN][1000 genomes]
rs6754377	0.97[ASN][1000 genomes]
rs72625231	0.86[ASN][1000 genomes]
rs7583118	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7598187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7609530	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9287944	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs953505	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10803857	BBS5	cis	parietal	SCAN
rs10803857	RBM27	trans	parietal	SCAN
rs10803857	DCBLD1	trans	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172117400-172120400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:172117600-172122400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:172117600-172122600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:172118400-172122400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:172118600-172124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:172118800-172120400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:172118800-172127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:172119000-172124000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:172119000-172124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:172119000-172124400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172119000-172124400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:172119000-172128200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:172119200-172122600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:172119200-172124200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:172119200-172124400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:172119600-172127600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:172120000-172120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:172120000-172120800	Enhancers	GM12878-XiMat	blood
20	chr2:172120000-172122600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172120200-172122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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