Variant report

Variant	rs12083975
Chromosome Location	chr1:97638705-97638706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11165808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088567	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093238	1.00[AMR][1000 genomes]
rs1514496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1709411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4489611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67908389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67915441	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726631	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs828056	0.86[AFR][1000 genomes]
rs9727438	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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97611600-97639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:97620200-97658400	Weak transcription	Lung	lung
3	chr1:97626600-97660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:97627000-97643000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:97627600-97657800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:97629400-97654000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:97629400-97655800	Weak transcription	NHDF-Ad	bronchial
8	chr1:97629400-97658200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:97630400-97652800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:97630400-97654400	Weak transcription	Psoas Muscle	Psoas
11	chr1:97634000-97645200	Weak transcription	Left Ventricle	heart
12	chr1:97634800-97641800	Weak transcription	Spleen	Spleen
13	chr1:97635200-97654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:97635400-97658400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:97636000-97660400	Weak transcription	Right Ventricle	heart
16	chr1:97636800-97657000	Weak transcription	Dnd41	blood
17	chr1:97637800-97643600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:97637800-97649000	Weak transcription	Primary T cells from cord blood	blood
19	chr1:97637800-97653600	Weak transcription	Liver	Liver
20	chr1:97638400-97639000	Enhancers	Fetal Brain Male	brain
21	chr1:97638400-97639600	Weak transcription	Monocytes-CD14+_RO01746	blood

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