Variant report

Variant	rs860154
Chromosome Location	chr1:76613144-76613145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1414403	0.83[CEU][hapmap]
rs1414406	0.83[CEU][hapmap]
rs167050	1.00[JPT][hapmap]
rs172334	1.00[JPT][hapmap]
rs2631778	0.93[CEU][hapmap]
rs289682	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289683	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289698	1.00[JPT][hapmap]
rs289699	1.00[JPT][hapmap]
rs289700	1.00[JPT][hapmap]
rs289701	1.00[JPT][hapmap]
rs2992502	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992503	1.00[JPT][hapmap]
rs3011994	1.00[JPT][hapmap]
rs3011995	1.00[JPT][hapmap]
rs3011997	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs366497	1.00[ASN][1000 genomes]
rs370016	0.83[CEU][hapmap]
rs370808	0.83[CEU][hapmap]
rs371955	1.00[ASN][1000 genomes]
rs387214	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs389899	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393933	0.83[CEU][hapmap]
rs398826	0.83[ASN][1000 genomes]
rs402394	0.83[CEU][hapmap]
rs404652	0.88[CEU][hapmap]
rs409979	0.87[CEU][hapmap]
rs413350	0.87[CEU][hapmap]
rs418644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423152	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425110	0.83[CEU][hapmap]
rs427172	1.00[ASN][1000 genomes]
rs438166	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442486	0.83[CEU][hapmap]
rs448003	0.81[CEU][hapmap]
rs450133	0.83[CEU][hapmap]
rs450708	0.83[ASN][1000 genomes]
rs532583	0.83[ASN][1000 genomes]
rs549195	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597362	1.00[JPT][hapmap]
rs603022	0.83[CEU][hapmap]
rs622212	1.00[JPT][hapmap]
rs638593	0.83[CEU][hapmap]
rs643289	1.00[JPT][hapmap]
rs681280	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs915402	1.00[JPT][hapmap]
rs915403	1.00[JPT][hapmap]
rs915404	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	esv3320250	chr1:76610497-76614054	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
3	esv3416303	chr1:76610526-76613998	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv3320249	chr1:76610581-76613977	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3320252	chr1:76610581-76613977	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv16389	chr1:76610720-76613917	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 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	chr1:76606200-76613400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:76606200-76614800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
8	chr1:76607600-76616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:76608400-76613200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:76608600-76616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:76608800-76615600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:76609800-76616800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:76610000-76616400	Weak transcription	Right Atrium	heart
17	chr1:76611000-76614800	Enhancers	Brain Hippocampus Middle	brain
18	chr1:76611000-76620000	Weak transcription	Fetal Lung	lung
19	chr1:76612200-76613200	Weak transcription	Brain Substantia Nigra	brain
20	chr1:76613000-76613600	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:76613000-76616600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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