Variant report

Variant	rs10493411
Chromosome Location	chr1:67027124-67027125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10789211	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs10889629	0.92[ASN][1000 genomes]
rs11208900	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11208901	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11208907	1.00[ASN][1000 genomes]
rs11208908	0.91[ASN][1000 genomes]
rs11208910	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11208916	0.88[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11208924	0.88[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11208929	0.89[EUR][1000 genomes]
rs11208930	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs11208937	0.88[CEU][hapmap]
rs1156618	0.92[ASN][1000 genomes]
rs12023176	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12025668	0.88[EUR][1000 genomes]
rs12034344	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12039282	0.86[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12041930	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12046520	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12046904	0.88[EUR][1000 genomes]
rs12048885	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs12402181	0.89[EUR][1000 genomes]
rs12565798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567556	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1373909	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs1445578	0.87[CEU][hapmap]
rs1445579	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs17129039	0.82[CEU][hapmap]
rs17129041	0.82[CEU][hapmap]
rs17129062	0.83[EUR][1000 genomes]
rs17129064	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs17129065	0.88[EUR][1000 genomes]
rs1925342	0.86[CEU][hapmap]
rs2312153	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3795531	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655498	0.91[ASN][1000 genomes]
rs4655620	0.91[ASN][1000 genomes]
rs57941297	0.83[EUR][1000 genomes]
rs587125	0.80[CEU][hapmap]
rs6588209	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs6588214	0.87[CEU][hapmap]
rs6680968	0.91[ASN][1000 genomes]
rs6686606	0.88[CEU][hapmap]
rs6687137	0.91[ASN][1000 genomes]
rs6697068	0.88[EUR][1000 genomes]
rs6699123	0.82[CEU][hapmap]
rs6701907	0.88[CEU][hapmap]
rs6701988	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72916320	0.88[EUR][1000 genomes]
rs72918447	0.89[EUR][1000 genomes]
rs7512692	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7519639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525509	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs7526812	0.86[CEU][hapmap]
rs7535076	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7537440	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs7547794	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs7547857	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs7547866	0.92[ASN][1000 genomes]
rs7551301	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs963140	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]

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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10493411	SGIP1	cis	Whole Blood	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
4	chr1:67011000-67028000	Weak transcription	HUVEC	blood vessel
5	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
6	chr1:67019000-67028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:67020200-67028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:67022200-67027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:67022400-67027200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:67022400-67028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:67022400-67028200	Weak transcription	Left Ventricle	heart
12	chr1:67022400-67028200	Weak transcription	NH-A	brain
13	chr1:67022400-67028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:67022400-67028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:67023000-67028400	Weak transcription	NHEK	skin
16	chr1:67023200-67027600	Weak transcription	Osteobl	bone
17	chr1:67023400-67027600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:67023400-67028000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:67023400-67028600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:67023400-67028800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:67023600-67028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:67023800-67027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:67023800-67028800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:67024000-67028200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
26	chr1:67025400-67027200	Weak transcription	NHLF	lung
27	chr1:67025600-67027200	Weak transcription	Aorta	Aorta
28	chr1:67025600-67027400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:67025600-67028000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:67025600-67028800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:67026000-67027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:67026000-67027800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:67026000-67028800	Weak transcription	Brain Substantia Nigra	brain
34	chr1:67026000-67029000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:67026200-67028000	Weak transcription	Fetal Heart	heart
36	chr1:67026400-67028200	Enhancers	NHDF-Ad	bronchial
37	chr1:67026600-67027400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:67027000-67027800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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