Variant report

Variant	rs289684
Chromosome Location	chr1:76609280-76609281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs289685	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs371490	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392194	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs401290	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs425877	1.00[EUR][1000 genomes]
rs439624	1.00[EUR][1000 genomes]
rs453606	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519835	1.00[EUR][1000 genomes]
rs549899	0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:35 , 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	chr1:76592600-76610800	Weak transcription	Fetal Kidney	kidney
4	chr1:76594600-76615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:76598600-76609800	Weak transcription	Fetal Stomach	stomach
6	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:76606200-76613400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:76606200-76614800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
10	chr1:76607200-76609600	Weak transcription	Stomach Mucosa	stomach
11	chr1:76607600-76616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:76608000-76610000	Enhancers	Right Atrium	heart
13	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:76608200-76609600	Enhancers	Fetal Heart	heart
15	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:76608400-76609400	Weak transcription	Lung	lung
18	chr1:76608400-76613200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:76608600-76610000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:76608600-76612200	Enhancers	Ovary	ovary
21	chr1:76608600-76613000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:76608600-76616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:76608800-76609800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:76608800-76611200	Enhancers	Adipose Nuclei	Adipose
25	chr1:76608800-76611200	Enhancers	Fetal Intestine Small	intestine
26	chr1:76608800-76611600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:76608800-76615600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:76609000-76609800	Enhancers	Aorta	Aorta
29	chr1:76609000-76610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:76609000-76610200	Weak transcription	Fetal Intestine Large	intestine
31	chr1:76609000-76611000	Enhancers	Fetal Lung	lung
32	chr1:76609000-76611600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:76609200-76610000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:76609200-76610400	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:76609200-76612000	Weak transcription	Fetal Brain Male	brain

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