Variant report

Variant	rs10801551
Chromosome Location	chr1:196580039-196580040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10754196	0.95[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10754198	0.84[ASN][1000 genomes]
rs10801537	0.81[CHB][hapmap]
rs10801560	1.00[CEU][hapmap]
rs10801561	1.00[CEU][hapmap]
rs10922071	0.84[CHB][hapmap]
rs10922075	0.90[CHB][hapmap]
rs10922082	0.86[CHB][hapmap]
rs10922083	0.90[CHB][hapmap]
rs10922084	0.91[CHB][hapmap]
rs10922088	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs11807331	0.85[CHB][hapmap]
rs12034150	0.82[CHB][hapmap]
rs12041668	0.91[CEU][hapmap]
rs12061508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12065463	0.91[CHB][hapmap]
rs12124794	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs16840224	0.95[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1831281	1.00[CEU][hapmap]
rs2284664	0.93[CEU][hapmap]
rs28688002	0.86[EUR][1000 genomes]
rs34388368	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657825	0.93[EUR][1000 genomes]
rs481595	0.86[EUR][1000 genomes]
rs5016801	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs505102	0.93[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs514591	0.85[EUR][1000 genomes]
rs529825	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs551397	0.84[EUR][1000 genomes]
rs558103	0.87[EUR][1000 genomes]
rs559350	0.84[EUR][1000 genomes]
rs61819890	0.82[ASN][1000 genomes]
rs6660100	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6680396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6690982	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs800292	0.88[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10801551	CFHR3	cis	parietal	SCAN
rs10801551	CFH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196578600-196581000	Weak transcription	Psoas Muscle	Psoas
2	chr1:196578800-196580400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:196578800-196580400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:196578800-196581000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:196579000-196580400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:196579000-196581200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:196579000-196581400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:196579400-196580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:196579400-196580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:196579400-196581200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:196579600-196580600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:196579600-196581200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:196579800-196580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:196580000-196581400	Enhancers	HUES6 Cell Line	embryonic stem cell

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