Variant report

Variant	rs6875229
Chromosome Location	chr5:124751820-124751821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55717300	1.00[ASN][1000 genomes]
rs56821497	1.00[ASN][1000 genomes]
rs56835569	1.00[ASN][1000 genomes]
rs57118683	1.00[ASN][1000 genomes]
rs57123863	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58308815	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58338793	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58631543	1.00[ASN][1000 genomes]
rs58917396	1.00[ASN][1000 genomes]
rs59380738	1.00[ASN][1000 genomes]
rs60214755	1.00[ASN][1000 genomes]
rs61472360	0.88[AFR][1000 genomes]
rs6595615	1.00[ASN][1000 genomes]
rs6866932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6866980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6870489	1.00[ASN][1000 genomes]
rs6875057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878929	0.88[AFR][1000 genomes]
rs6883628	0.86[AFR][1000 genomes]
rs6884059	0.92[AFR][1000 genomes]
rs6884354	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6887469	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890153	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6894842	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73303305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303332	0.91[AFR][1000 genomes]
rs73303334	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73303374	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73303384	0.83[AFR][1000 genomes]
rs73305344	1.00[ASN][1000 genomes]
rs73321471	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702589	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7711951	1.00[ASN][1000 genomes]
rs7725952	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7729702	1.00[ASN][1000 genomes]
rs7729817	0.86[AFR][1000 genomes]
rs7730376	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7730445	0.85[AFR][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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124749000-124753000	Enhancers	Brain Substantia Nigra	brain
2	chr5:124749000-124753400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124750000-124753200	Weak transcription	Fetal Lung	lung
4	chr5:124750000-124756800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:124750400-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:124750400-124760400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:124750600-124756800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:124751000-124756200	Weak transcription	Fetal Brain Female	brain
9	chr5:124751200-124756600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:124751200-124758000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:124751200-124760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:124751600-124752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:124751600-124753000	Enhancers	Brain Angular Gyrus	brain
14	chr5:124751600-124753000	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:124751600-124753800	Enhancers	Brain Hippocampus Middle	brain
16	chr5:124751600-124756000	Weak transcription	Fetal Brain Male	brain
17	chr5:124751600-124756800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:124751800-124752200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:124751800-124760400	Weak transcription	Fetal Kidney	kidney

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