Variant report

Variant	rs531078
Chromosome Location	chr11:100759298-100759299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2155443	0.85[EUR][1000 genomes]
rs485546	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs512176	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs514957	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs545183	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs585183	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs607392	0.84[EUR][1000 genomes]
rs608920	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs613667	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs614393	0.90[AFR][1000 genomes]
rs614761	0.81[AFR][1000 genomes]
rs636528	0.90[AFR][1000 genomes]
rs641341	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs649512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs657945	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs662530	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs672160	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs673183	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7938783	0.86[AMR][1000 genomes];0.92[EUR][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	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

No data

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	chr11:100752800-100761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:100754800-100759400	Weak transcription	Fetal Heart	heart
6	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:100755400-100760600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:100755800-100760800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:100756000-100760000	Weak transcription	Right Atrium	heart
10	chr11:100758200-100760400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:100758600-100760000	Weak transcription	Right Ventricle	heart
13	chr11:100758600-100760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:100759000-100760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:100759000-100761400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:100759200-100760000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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