Variant report

Variant	rs9594231
Chromosome Location	chr13:38357600-38357601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1319667	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1333369	0.86[EUR][1000 genomes]
rs1333370	0.87[EUR][1000 genomes]
rs1333371	0.87[EUR][1000 genomes]
rs1333373	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1333374	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs1333375	0.87[EUR][1000 genomes]
rs1333376	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1556543	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1831799	0.87[EUR][1000 genomes]
rs1855253	0.85[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs2151438	0.85[CEU][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2875103	0.87[EUR][1000 genomes]
rs3904512	1.00[CEU][hapmap];0.80[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4258486	0.87[EUR][1000 genomes]
rs4264267	0.87[EUR][1000 genomes]
rs4386013	0.87[EUR][1000 genomes]
rs4460944	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs4943535	0.87[EUR][1000 genomes]
rs4943536	0.87[EUR][1000 genomes]
rs4943537	0.87[EUR][1000 genomes]
rs7139739	0.87[EUR][1000 genomes]
rs7319967	0.87[EUR][1000 genomes]
rs7321072	0.87[EUR][1000 genomes]
rs7321594	0.87[EUR][1000 genomes]
rs7325550	0.87[EUR][1000 genomes]
rs7327448	0.84[EUR][1000 genomes]
rs7330192	0.85[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs7330208	0.87[EUR][1000 genomes]
rs7335814	0.87[EUR][1000 genomes]
rs7339215	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7993498	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995772	0.85[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs7997329	0.85[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs9315512	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs9315513	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs9315514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315515	0.87[EUR][1000 genomes]
rs933006	0.85[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs9532115	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs9532116	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs9548046	0.87[EUR][1000 genomes]
rs9548047	0.87[EUR][1000 genomes]
rs9548048	0.85[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs9566253	0.87[EUR][1000 genomes]
rs9576350	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs9576351	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs9594230	0.87[EUR][1000 genomes]
rs9603257	0.87[EUR][1000 genomes]
rs9603258	0.87[EUR][1000 genomes]
rs989060	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753974	chr13:38341331-38363450	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv33246	chr13:38353893-38357951	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38355800-38359600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:38356200-38363400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:38356600-38357600	Strong transcription	Osteobl	bone
4	chr13:38356800-38360000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:38357400-38357800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:38357400-38360600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:38357600-38360000	Weak transcription	Osteobl	bone

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