Variant report

Variant	rs614761
Chromosome Location	chr11:100759057-100759058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10791434	1.00[CEU][hapmap]
rs10791437	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs10791438	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap]
rs10895031	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11224535	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11571253	1.00[CHB][hapmap]
rs1217180	0.91[EUR][1000 genomes]
rs2155442	1.00[CEU][hapmap]
rs2510624	1.00[CEU][hapmap]
rs3017866	1.00[CEU][hapmap]
rs471180	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs474651	1.00[CEU][hapmap]
rs4753987	1.00[CEU][hapmap]
rs480080	1.00[CEU][hapmap]
rs481991	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs482050	1.00[CEU][hapmap];0.89[GIH][hapmap]
rs485767	1.00[CEU][hapmap]
rs493079	1.00[CEU][hapmap]
rs494907	1.00[CEU][hapmap]
rs499861	0.91[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap]
rs501797	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs503455	1.00[CEU][hapmap]
rs504081	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs505405	1.00[CEU][hapmap]
rs508850	1.00[CEU][hapmap]
rs509013	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs509166	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs512405	1.00[CEU][hapmap];0.89[GIH][hapmap]
rs513057	1.00[CEU][hapmap]
rs514101	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs514403	1.00[CEU][hapmap]
rs515868	0.81[GIH][hapmap]
rs518675	1.00[CEU][hapmap]
rs520403	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs520539	1.00[CEU][hapmap]
rs522337	1.00[CEU][hapmap]
rs522988	0.90[CEU][hapmap]
rs524416	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs525129	1.00[CEU][hapmap]
rs525940	1.00[CEU][hapmap]
rs529194	1.00[CEU][hapmap]
rs531078	0.81[AFR][1000 genomes]
rs534623	1.00[CEU][hapmap]
rs535518	1.00[CEU][hapmap]
rs536270	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs538158	1.00[CEU][hapmap]
rs539204	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs540000	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap]
rs540961	1.00[CEU][hapmap]
rs541056	1.00[CEU][hapmap]
rs544257	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs546052	1.00[CEU][hapmap]
rs546059	0.91[EUR][1000 genomes]
rs547105	1.00[CEU][hapmap]
rs555825	0.80[GIH][hapmap]
rs560235	1.00[CEU][hapmap]
rs562891	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs563460	0.81[GIH][hapmap]
rs572838	1.00[CEU][hapmap]
rs575448	1.00[CEU][hapmap]
rs577170	0.86[EUR][1000 genomes]
rs577251	0.91[CEU][hapmap]
rs580773	1.00[CEU][hapmap]
rs583989	0.88[EUR][1000 genomes]
rs584029	0.91[EUR][1000 genomes]
rs594985	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs602385	1.00[CEU][hapmap]
rs607889	0.87[EUR][1000 genomes]
rs614393	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616164	1.00[CEU][hapmap]
rs618017	1.00[CEU][hapmap]
rs618155	1.00[CEU][hapmap]
rs618907	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs619066	1.00[CEU][hapmap]
rs620790	1.00[CEU][hapmap];0.94[GIH][hapmap]
rs621172	1.00[CEU][hapmap]
rs629442	0.87[EUR][1000 genomes]
rs629677	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs632725	1.00[CEU][hapmap]
rs636528	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs637508	1.00[CEU][hapmap]
rs638004	1.00[CEU][hapmap]
rs641948	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs649369	1.00[CEU][hapmap]
rs649394	1.00[CEU][hapmap]
rs649512	0.81[AFR][1000 genomes]
rs650269	1.00[CEU][hapmap]
rs652017	1.00[CEU][hapmap]
rs652559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs653344	0.84[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs661973	0.81[GIH][hapmap]
rs662173	1.00[CEU][hapmap]
rs676976	1.00[CEU][hapmap]
rs678351	1.00[CEU][hapmap]
rs678775	1.00[CEU][hapmap]
rs688664	0.87[EUR][1000 genomes]
rs693760	1.00[CEU][hapmap]
rs694078	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs7952634	1.00[CEU][hapmap]

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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs614761	PGR	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100749400-100759600	Weak transcription	NH-A	brain
2	chr11:100749600-100761200	Weak transcription	HSMM	muscle
3	chr11:100750600-100760800	Weak transcription	NHDF-Ad	bronchial
4	chr11:100751400-100759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:100752800-100761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:100754800-100759400	Weak transcription	Fetal Heart	heart
7	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:100755400-100760600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:100755800-100760800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:100756000-100760000	Weak transcription	Right Atrium	heart
11	chr11:100758200-100760400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:100758600-100760000	Weak transcription	Right Ventricle	heart
14	chr11:100758600-100760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:100759000-100760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:100759000-100761400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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