Variant report

Variant	rs7937950
Chromosome Location	chr11:47098445-47098446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10466478	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1055447	0.89[ASN][1000 genomes]
rs1060573	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769230	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10769233	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769234	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769239	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838654	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838659	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838660	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039074	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11039086	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039097	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039105	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039107	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039112	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039119	0.90[ASN][1000 genomes]
rs11039124	0.87[ASN][1000 genomes]
rs11039134	0.82[ASN][1000 genomes]
rs11600668	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12224096	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12291341	0.83[ASN][1000 genomes]
rs12796744	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12807887	0.87[ASN][1000 genomes]
rs1872896	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1965952	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1976142	0.81[ASN][1000 genomes]
rs1976143	0.83[ASN][1000 genomes]
rs2018527	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029298	0.83[ASN][1000 genomes]
rs4237547	0.83[ASN][1000 genomes]
rs4319472	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4567413	0.83[ASN][1000 genomes]
rs4579897	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752952	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752957	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752962	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752963	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752967	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752971	0.87[ASN][1000 genomes]
rs57323109	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485721	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6485722	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6485739	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7103581	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7108902	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111764	0.83[ASN][1000 genomes]
rs7118546	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7119952	0.84[ASN][1000 genomes]
rs7121418	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125807	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7128325	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs747650	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7479189	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7937101	0.83[ASN][1000 genomes]
rs7942473	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7945315	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946709	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947878	0.87[ASN][1000 genomes]
rs9633886	0.85[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	nsv1043108	chr11:47041565-47117248	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7937950	DDB2	cis	Skin Sun Exposed Lower leg	GTEx
rs7937950	LRP4	cis	Nerve Tibial	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47073800-47100200	Weak transcription	Thymus	Thymus
2	chr11:47077600-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47080800-47103000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:47083200-47100600	Weak transcription	NH-A	brain
5	chr11:47085800-47102400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:47089400-47107000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:47089400-47120800	Weak transcription	Hela-S3	cervix
8	chr11:47093000-47100000	Weak transcription	Fetal Kidney	kidney
9	chr11:47093600-47101400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:47093800-47100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:47093800-47103800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:47093800-47105000	Weak transcription	HSMM	muscle
13	chr11:47093800-47105400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:47094000-47104000	Weak transcription	Fetal Stomach	stomach
15	chr11:47094000-47105200	Weak transcription	NHEK	skin
16	chr11:47094000-47116400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:47094000-47125200	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:47095000-47100600	Weak transcription	Fetal Lung	lung

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