Variant report

Variant	rs984409
Chromosome Location	chr1:67020440-67020441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10889624	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10889625	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11208903	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143964	0.98[EUR][1000 genomes]
rs1338184	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1338194	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1338200	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1373911	0.82[AMR][1000 genomes]
rs1415974	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1415984	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1547737	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1856315	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1856318	0.82[AMR][1000 genomes]
rs1947083	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2121051	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2859914	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4142763	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4655494	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6588203	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6588204	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6691033	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7354930	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7354983	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7355221	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7540195	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7543607	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs967322	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs967325	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs994396	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs996123	0.82[AMR][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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000400-67022000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:67001200-67022000	Weak transcription	Right Ventricle	heart
4	chr1:67007000-67021800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
7	chr1:67011000-67028000	Weak transcription	HUVEC	blood vessel
8	chr1:67011200-67021800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:67011200-67022000	Weak transcription	Pancreas	Pancrea
10	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
11	chr1:67012400-67021400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:67013800-67021200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:67015800-67021600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:67017400-67023800	Enhancers	Fetal Heart	heart
15	chr1:67017800-67022400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:67018000-67023800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:67018200-67023800	Enhancers	Brain Angular Gyrus	brain
18	chr1:67018400-67021400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:67018400-67022000	Weak transcription	NH-A	brain
20	chr1:67018800-67022000	Weak transcription	Aorta	Aorta
21	chr1:67018800-67022000	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:67018800-67022000	Weak transcription	Left Ventricle	heart
23	chr1:67019000-67021400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:67019000-67021400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:67019000-67021800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:67019000-67022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:67019000-67023600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:67019000-67028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:67019200-67021800	Weak transcription	Fetal Thymus	thymus
30	chr1:67019200-67023200	Weak transcription	Fetal Lung	lung
31	chr1:67019600-67021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:67019800-67021200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:67019800-67021400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:67019800-67024000	Enhancers	NHDF-Ad	bronchial
35	chr1:67020000-67022200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:67020200-67021200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:67020200-67021200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:67020200-67021400	Weak transcription	HMEC	breast
39	chr1:67020200-67021600	Weak transcription	NHEK	skin
40	chr1:67020200-67021800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:67020200-67021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:67020200-67021800	Weak transcription	NHLF	lung
43	chr1:67020200-67022000	Weak transcription	Osteobl	bone
44	chr1:67020200-67028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:67020400-67021200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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