Variant report

Variant	rs2433610
Chromosome Location	chr15:45686091-45686092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45606829..45607558-chr15:45685720..45686738,3	MCF-7	breast:
2	chr15:45599020..45599635-chr15:45685828..45686671,2	MCF-7	breast:
3	chr15:45685120..45688238-chr15:45691728..45694195,3	MCF-7	breast:
4	chr15:45681297..45682843-chr15:45685463..45687115,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10519020	1.00[MEX][hapmap]
rs1055395	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070455	1.00[EUR][1000 genomes]
rs1145072	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145073	1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145075	0.89[YRI][hapmap]
rs1145082	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145092	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1145094	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1145099	0.85[YRI][hapmap]
rs1153834	1.00[MEX][hapmap]
rs1153848	0.89[YRI][hapmap]
rs1153850	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153851	0.89[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153856	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153859	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1346265	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403319	1.00[EUR][1000 genomes]
rs1464558	1.00[EUR][1000 genomes]
rs16940734	1.00[MEX][hapmap]
rs16941118	0.85[GIH][hapmap]
rs16941127	0.85[GIH][hapmap]
rs16941188	1.00[MEX][hapmap]
rs16941213	1.00[MEX][hapmap]
rs16941242	1.00[MEX][hapmap]
rs16941245	0.85[GIH][hapmap]
rs16942796	0.85[GIH][hapmap]
rs1706775	1.00[EUR][1000 genomes]
rs1706782	1.00[EUR][1000 genomes]
rs1706783	1.00[EUR][1000 genomes]
rs1706784	1.00[EUR][1000 genomes]
rs1706786	1.00[EUR][1000 genomes]
rs1706788	1.00[EUR][1000 genomes]
rs1706789	1.00[EUR][1000 genomes]
rs1706790	1.00[EUR][1000 genomes]
rs1706794	1.00[EUR][1000 genomes]
rs1706795	1.00[EUR][1000 genomes]
rs1706796	1.00[EUR][1000 genomes]
rs1706797	1.00[EUR][1000 genomes]
rs1706801	0.85[YRI][hapmap]
rs1719242	1.00[EUR][1000 genomes]
rs1719249	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs1874318	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217121	0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433603	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2433604	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2433605	1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433606	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433609	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433621	1.00[MEX][hapmap]
rs2453526	1.00[MEX][hapmap]
rs2453544	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2461704	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467852	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467855	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467856	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467857	1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486271	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486273	0.85[AFR][1000 genomes]
rs2486282	1.00[MEX][hapmap]
rs2486289	1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486290	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2668740	1.00[EUR][1000 genomes]
rs2687513	1.00[EUR][1000 genomes]
rs57553327	1.00[EUR][1000 genomes]
rs7163395	1.00[EUR][1000 genomes]
rs7163751	1.00[EUR][1000 genomes]
rs7164252	1.00[EUR][1000 genomes]
rs7169175	1.00[EUR][1000 genomes]
rs7173541	1.00[EUR][1000 genomes]
rs7179186	1.00[EUR][1000 genomes]
rs7179844	1.00[EUR][1000 genomes]
rs74009622	1.00[EUR][1000 genomes]
rs8028061	1.00[EUR][1000 genomes]
rs8033329	1.00[EUR][1000 genomes]
rs8040380	1.00[EUR][1000 genomes]
rs9806260	1.00[EUR][1000 genomes]
rs9972443	0.85[GIH][hapmap]
rs9972564	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Serum metabolite levels	24625756	GWAS catalog

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45679000-45686200	Weak transcription	Left Ventricle	heart
2	chr15:45679000-45693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:45679400-45688800	Enhancers	Liver	Liver
4	chr15:45682600-45686200	Weak transcription	Ovary	ovary
5	chr15:45682800-45693800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:45683200-45686200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:45683200-45686600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:45683200-45691600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:45684600-45686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:45684800-45686400	Weak transcription	NHEK	skin
11	chr15:45685000-45686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:45685000-45686200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:45685400-45687000	Active TSS	Fetal Intestine Large	intestine
14	chr15:45685600-45691800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:45685600-45692800	Weak transcription	GM12878-XiMat	blood
16	chr15:45685800-45688400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:45685800-45689600	Active TSS	Fetal Intestine Small	intestine
18	chr15:45686000-45686600	Enhancers	Pancreas	Pancrea
19	chr15:45686000-45687000	Enhancers	Brain Anterior Caudate	brain
20	chr15:45686000-45687000	Enhancers	Brain Cingulate Gyrus	brain
21	chr15:45686000-45687000	Enhancers	Brain Hippocampus Middle	brain
22	chr15:45686000-45687000	Flanking Active TSS	HepG2	liver
23	chr15:45686000-45688800	Enhancers	Brain Substantia Nigra	brain

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