Variant report

Variant	rs7125807
Chromosome Location	chr11:47041163-47041164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10466478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10501319	0.82[CHB][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs1055447	0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1060573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs10769225	0.82[CHB][hapmap]
rs10769226	0.82[CHB][hapmap];0.94[GIH][hapmap]
rs10769227	0.82[CHB][hapmap]
rs10769230	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769233	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769239	0.89[ASN][1000 genomes]
rs10838635	0.82[CHB][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap]
rs10838640	0.82[CHB][hapmap]
rs10838644	0.82[CHB][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap]
rs10838646	0.82[CHB][hapmap]
rs10838649	0.83[AMR][1000 genomes]
rs10838652	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs10838654	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10838658	0.82[CHB][hapmap]
rs10838659	0.86[ASN][1000 genomes]
rs10838660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs10838662	0.82[CHB][hapmap];0.92[GIH][hapmap]
rs10838663	0.82[CHB][hapmap]
rs10838664	0.82[CHB][hapmap];0.86[GIH][hapmap]
rs11039035	0.82[CHB][hapmap]
rs11039074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039086	0.89[ASN][1000 genomes]
rs11039097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs11039105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs11039107	0.86[ASN][1000 genomes]
rs11039112	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs11039119	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.85[ASN][1000 genomes]
rs11039124	0.82[ASN][1000 genomes]
rs11600292	0.82[CHB][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap]
rs11600668	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs11601798	0.85[CHB][hapmap]
rs11602250	0.84[CHB][hapmap]
rs12224096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12274845	0.82[YRI][hapmap]
rs12417519	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs12574410	0.86[CHB][hapmap]
rs12796744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs12807887	0.83[ASN][1000 genomes]
rs17790204	0.82[CHB][hapmap]
rs1872896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs1965952	0.86[ASN][1000 genomes]
rs2018527	0.86[ASN][1000 genomes]
rs2029298	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs2087215	0.82[CHB][hapmap];0.92[GIH][hapmap]
rs2279438	0.82[CHB][hapmap]
rs2279439	0.82[CHB][hapmap];0.86[GIH][hapmap]
rs4319472	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs4394802	0.94[GIH][hapmap];0.86[MEX][hapmap]
rs4528282	0.82[CHB][hapmap]
rs4548577	0.82[CHB][hapmap]
rs4567413	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs4579897	0.90[ASN][1000 genomes]
rs4581406	0.82[CHB][hapmap];0.94[GIH][hapmap]
rs4587689	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4752815	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4752816	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4752951	0.82[CHB][hapmap]
rs4752952	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4752962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4752963	0.84[ASN][1000 genomes]
rs4752965	0.82[CHB][hapmap]
rs4752967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4752969	0.82[CHB][hapmap];0.92[GIH][hapmap]
rs4752971	0.95[CEU][hapmap];0.83[ASN][1000 genomes]
rs57323109	0.85[ASN][1000 genomes]
rs6485696	0.83[CHD][hapmap];0.83[GIH][hapmap]
rs6485702	0.86[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs6485715	0.82[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs6485716	0.86[CHB][hapmap]
rs6485721	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485722	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6485726	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs6485739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs7103581	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7107778	0.80[GIH][hapmap]
rs7108427	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7108902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7111270	0.82[CHB][hapmap]
rs7112854	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7117590	0.82[YRI][hapmap]
rs7118546	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs7124648	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7126005	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7128325	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128650	0.82[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7130006	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs7130947	0.82[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs747650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[ASN][1000 genomes]
rs7479189	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs7935192	0.82[YRI][hapmap]
rs7935346	0.94[GIH][hapmap]
rs7937101	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs7937410	0.82[CHB][hapmap];0.86[GIH][hapmap]
rs7937950	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7938169	0.82[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs7940240	0.82[CHB][hapmap];0.86[GIH][hapmap]
rs7940441	0.86[GIH][hapmap]
rs7942473	0.89[ASN][1000 genomes]
rs7945052	0.82[YRI][hapmap]
rs7945315	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs7945558	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap]
rs7946709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7947878	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7950753	0.82[CHB][hapmap];0.94[GIH][hapmap]
rs923324	0.81[CHB][hapmap]
rs9300055	0.80[AFR][1000 genomes]
rs9633886	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7125807	CTD-2384B9.1	cis	Nerve Tibial	GTEx
rs7125807	F2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026600-47042200	Weak transcription	Small Intestine	intestine
2	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:47027200-47042000	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:47027800-47048000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:47033000-47042000	Weak transcription	Fetal Lung	lung
7	chr11:47039600-47042000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:47040600-47043000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:47041000-47041800	Strong transcription	Hela-S3	cervix
10	chr11:47041000-47042400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:47041000-47043600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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