Variant report

Variant	rs7526812
Chromosome Location	chr1:67109335-67109336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10493411	0.86[CEU][hapmap]
rs10789211	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10889636	0.83[ASW][hapmap]
rs10889638	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11208910	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs11208916	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs11208924	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11208929	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11208930	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11208937	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12021913	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12023176	0.94[JPT][hapmap]
rs12031054	0.83[ASW][hapmap]
rs12039282	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap]
rs12041930	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap]
rs12046520	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12093843	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402181	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1359461	0.96[YRI][hapmap]
rs1373909	0.94[JPT][hapmap]
rs1445578	0.81[TSI][hapmap]
rs1445579	0.81[TSI][hapmap]
rs17129064	0.81[TSI][hapmap]
rs1925342	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6588209	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs6588214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6686606	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs6701907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72918447	0.81[AMR][1000 genomes]
rs7515444	0.80[CHD][hapmap]
rs7525509	0.94[JPT][hapmap]
rs7535076	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs7536188	0.83[ASW][hapmap]
rs7537440	0.94[JPT][hapmap]
rs7547794	0.94[JPT][hapmap]
rs7547857	0.94[JPT][hapmap]
rs7551301	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs963140	0.94[JPT][hapmap]

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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7526812	SGIP1	cis	Whole Blood	GTEx
rs7526812	ITGB3BP	cis	cerebellum	SCAN
rs7526812	SGIP1	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67088400-67114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
3	chr1:67091200-67128000	Weak transcription	NH-A	brain
4	chr1:67092000-67117200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:67092200-67114200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:67099400-67115600	Weak transcription	Fetal Lung	lung
7	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
8	chr1:67101200-67113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:67101400-67110200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:67101600-67110800	Weak transcription	Aorta	Aorta
11	chr1:67102800-67120200	Weak transcription	Brain Germinal Matrix	brain
12	chr1:67103200-67112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:67106800-67115800	Weak transcription	Fetal Brain Male	brain
15	chr1:67107200-67112800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:67107200-67114200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:67107800-67109600	Strong transcription	NHLF	lung
18	chr1:67108000-67136200	Weak transcription	Fetal Brain Female	brain
19	chr1:67108200-67110200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:67108400-67109600	Enhancers	Brain Anterior Caudate	brain
21	chr1:67108400-67110800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:67108600-67110400	Enhancers	Brain Hippocampus Middle	brain
23	chr1:67108600-67110800	Enhancers	Brain Substantia Nigra	brain
24	chr1:67108600-67111000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:67108800-67109400	Enhancers	Brain Angular Gyrus	brain
26	chr1:67108800-67109600	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:67109000-67110800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:67109000-67117800	Weak transcription	Osteobl	bone
29	chr1:67109200-67110400	Weak transcription	NHDF-Ad	bronchial
30	chr1:67109200-67110800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:67109200-67120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--

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