Variant report

Variant	rs549195
Chromosome Location	chr1:76614717-76614718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs289682	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289683	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992502	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011997	1.00[ASN][1000 genomes]
rs366497	1.00[ASN][1000 genomes]
rs371955	1.00[ASN][1000 genomes]
rs387214	1.00[ASN][1000 genomes]
rs389899	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398826	0.83[ASN][1000 genomes]
rs418644	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427172	1.00[ASN][1000 genomes]
rs438166	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450708	0.83[ASN][1000 genomes]
rs532583	0.83[ASN][1000 genomes]
rs681280	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860154	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
3	chr1:76594600-76615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76606200-76614800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
7	chr1:76607600-76616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:76608600-76616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:76608800-76615600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:76609800-76616800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:76610000-76616400	Weak transcription	Right Atrium	heart
15	chr1:76611000-76614800	Enhancers	Brain Hippocampus Middle	brain
16	chr1:76611000-76620000	Weak transcription	Fetal Lung	lung
17	chr1:76613000-76616600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:76613200-76617400	Enhancers	Brain Substantia Nigra	brain
19	chr1:76613400-76616800	Enhancers	Brain Anterior Caudate	brain
20	chr1:76613800-76615800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:76614400-76617000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:76614600-76615600	Weak transcription	Adipose Nuclei	Adipose

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