Variant report

Variant	rs2273891
Chromosome Location	chr10:98097998-98097999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98092206..98094114-chr10:98095526..98098374,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10509708	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs10748673	0.84[CHD][hapmap]
rs10786277	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10786278	1.00[ASN][1000 genomes]
rs10786279	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10786282	0.84[CHD][hapmap]
rs10882772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882773	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10882774	0.96[ASN][1000 genomes]
rs10882777	0.84[CHD][hapmap]
rs11188697	0.85[CHB][hapmap]
rs11188702	0.83[AMR][1000 genomes]
rs11188704	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap]
rs11188705	1.00[CHB][hapmap]
rs11188709	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188724	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs11188725	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs11591467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11593073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597348	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598258	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap]
rs11818942	0.89[CEU][hapmap];0.83[CHD][hapmap]
rs12269557	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs12571241	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs12572329	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs12761715	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap]
rs12766367	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap]
rs12772674	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap]
rs12774154	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap]
rs12779164	1.00[CHB][hapmap]
rs12779564	1.00[CHB][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap]
rs17111609	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs17111612	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs17111614	1.00[CHB][hapmap]
rs17111622	1.00[CHB][hapmap]
rs17111628	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap]
rs17111733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111762	0.82[TSI][hapmap]
rs1923703	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1923707	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1923708	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2093557	0.82[TSI][hapmap]
rs2146393	0.81[CEU][hapmap]
rs2146394	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2154183	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs2181322	0.87[AMR][1000 genomes]
rs2861572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2901989	0.81[CEU][hapmap]
rs2901990	0.84[CHD][hapmap]
rs34128907	0.91[AMR][1000 genomes]
rs35388328	0.82[AMR][1000 genomes]
rs35531390	0.82[AMR][1000 genomes]
rs3789937	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs3789942	0.84[CHD][hapmap]
rs3818313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073871	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs7077344	1.00[CEU][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7096879	1.00[ASN][1000 genomes]
rs71482402	0.82[AMR][1000 genomes]
rs71484204	0.87[AMR][1000 genomes]
rs71484205	0.87[AMR][1000 genomes]
rs72811058	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7893551	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv831950	chr10:98080972-98245434	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2273891	CHUK	cis	parietal	SCAN
rs2273891	GOT1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98094400-98099400	Strong transcription	Thymus	Thymus
2	chr10:98095200-98098000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr10:98095200-98098400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:98095200-98098400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:98095200-98098400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:98095200-98098600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:98095200-98098600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:98095200-98098600	Weak transcription	Brain Anterior Caudate	brain
9	chr10:98095200-98098800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:98095200-98099400	Strong transcription	Dnd41	blood
11	chr10:98095200-98099800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:98095200-98101200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:98097200-98098800	Enhancers	Brain Substantia Nigra	brain
14	chr10:98097200-98099800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:98097400-98098000	Enhancers	Brain Hippocampus Middle	brain
16	chr10:98097400-98099800	Enhancers	Brain Angular Gyrus	brain
17	chr10:98097400-98099800	Weak transcription	Fetal Thymus	thymus
18	chr10:98097800-98099800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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