Variant report

Variant	rs1077491
Chromosome Location	chr11:45303687-45303688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1075778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769133	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769136	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1077490	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838437	0.88[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs10838438	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038354	0.80[JPT][hapmap]
rs11038358	0.80[JPT][hapmap]
rs11038360	0.87[JPT][hapmap]
rs11038372	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11038382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11038384	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11038388	0.84[EUR][1000 genomes]
rs11604409	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12363398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363412	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791607	0.84[EUR][1000 genomes]
rs2289448	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2863176	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2863178	0.88[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2863181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2863182	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2902429	0.86[ASN][1000 genomes]
rs2902433	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34191816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758726	0.80[JPT][hapmap]
rs4073405	0.82[EUR][1000 genomes]
rs4556529	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4556531	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4755306	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4755943	0.88[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4992029	0.87[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6485603	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6485605	0.87[ASN][1000 genomes]
rs6485607	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485608	0.86[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485609	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110580	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7112865	0.82[EUR][1000 genomes]
rs7114339	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7117240	0.82[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs7123698	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123765	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127746	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7131438	0.83[EUR][1000 genomes]
rs731102	0.85[JPT][hapmap]
rs7395289	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7395357	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395419	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395421	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7396488	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751196	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7943596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8929	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9300051	0.88[CHB][hapmap];0.93[JPT][hapmap];0.86[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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1077491	SYT13	cis	Skin Sun Exposed Lower leg	GTEx
rs1077491	SYT13	cis	cerebellum	SCAN
rs1077491	LRP4	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45301000-45305000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:45301800-45303800	Weak transcription	Fetal Brain Female	brain
3	chr11:45302400-45304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:45303000-45304600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:45303200-45304000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:45303200-45304800	Enhancers	Fetal Intestine Large	intestine
7	chr11:45303400-45303800	Enhancers	Fetal Lung	lung
8	chr11:45303400-45304000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:45303400-45304000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:45303400-45304000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:45303400-45304000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:45303400-45304200	Enhancers	Fetal Brain Male	brain
13	chr11:45303600-45303800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:45303600-45303800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:45303600-45303800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:45303600-45304000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:45303600-45304000	Enhancers	Fetal Intestine Small	intestine

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