Variant report

Variant	rs2803139
Chromosome Location	chr1:77988573-77988574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1135921	1.00[AMR][1000 genomes]
rs1353727	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100655	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100694	1.00[AMR][1000 genomes]
rs17100731	1.00[AMR][1000 genomes]
rs17100781	1.00[AMR][1000 genomes]
rs17100789	1.00[AMR][1000 genomes]
rs17100941	1.00[AMR][1000 genomes]
rs2047167	1.00[AMR][1000 genomes]
rs2088519	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2291689	1.00[AMR][1000 genomes]
rs2647495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803166	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803169	1.00[AMR][1000 genomes]
rs2803170	1.00[AMR][1000 genomes]
rs3104462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3104463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77980800-77999400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77981800-77998400	Weak transcription	Osteobl	bone
3	chr1:77981800-77999200	Weak transcription	NHLF	lung
4	chr1:77981800-77999400	Weak transcription	HSMMtube	muscle
5	chr1:77982000-77998200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:77982000-77998200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:77982200-77998200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:77984600-77991200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:77984600-77996400	Strong transcription	NHDF-Ad	bronchial
11	chr1:77984800-77988600	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr1:77984800-77991600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:77984800-77991600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:77985000-77988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:77985000-77991200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:77985200-77999400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:77985400-77999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:77987200-77988600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr1:77987200-77989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:77987200-77991400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:77987200-77992000	Strong transcription	HSMM	muscle
22	chr1:77987400-77989000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:77987400-77990400	Strong transcription	Brain Hippocampus Middle	brain
24	chr1:77987600-77988800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:77987600-77993200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:77987800-77990000	Strong transcription	Primary T cells from cord blood	blood
27	chr1:77988000-77988800	Enhancers	HMEC	breast
28	chr1:77988000-77989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:77988000-77989000	Strong transcription	Brain Cingulate Gyrus	brain
30	chr1:77988000-77989800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:77988400-77999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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