Variant report

Variant	rs1168016
Chromosome Location	chr1:63002563-63002564
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10889341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167995	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168038	1.00[AMR][1000 genomes]
rs1168048	1.00[AMR][1000 genomes]
rs1168088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168091	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690760	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690765	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748194	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2813926	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34186185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593519	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs612455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs660642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436660	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
2	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
4	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:62954000-63003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
8	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:62958200-63010800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:62958200-63061000	Weak transcription	Lung	lung
11	chr1:62960400-63004400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:62960400-63011800	Weak transcription	Pancreas	Pancrea
13	chr1:62977000-63004800	Weak transcription	NHLF	lung
14	chr1:62979200-63026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:62979600-63030200	Weak transcription	NHEK	skin
16	chr1:62981400-63003400	Weak transcription	Fetal Kidney	kidney
17	chr1:62981600-63004600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:62982800-63010200	Weak transcription	A549	lung
19	chr1:62984200-63028000	Weak transcription	Esophagus	oesophagus
20	chr1:62984600-63005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:62985400-63004600	Weak transcription	HSMMtube	muscle
22	chr1:62985400-63026200	Weak transcription	Primary B cells from cord blood	blood
23	chr1:62990400-63005400	Weak transcription	Thymus	Thymus
24	chr1:62990800-63006400	Weak transcription	Hela-S3	cervix
25	chr1:62991000-63027200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:62991200-63010600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:62991200-63025800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:62991400-63010200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:62993000-63022000	Weak transcription	GM12878-XiMat	blood
30	chr1:62994000-63003200	Weak transcription	Osteobl	bone
31	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:62994400-63006800	Weak transcription	HUVEC	blood vessel
33	chr1:62994800-63028600	Weak transcription	Right Ventricle	heart
34	chr1:62995000-63030200	Weak transcription	Spleen	Spleen
35	chr1:62996200-63003600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:62996600-63004200	Weak transcription	K562	blood
37	chr1:62996600-63006800	Weak transcription	Brain Anterior Caudate	brain
38	chr1:62996800-63003600	Weak transcription	Liver	Liver
39	chr1:62997200-63006400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:62997400-63008600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:62997400-63008800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:62997600-63005600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:62997600-63007600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:62998000-63008600	Strong transcription	Fetal Intestine Large	intestine
45	chr1:62998000-63015400	Weak transcription	Colonic Mucosa	Colon
46	chr1:62998200-63009400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:62998200-63009600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:62998400-63009000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:62998600-63002800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:62998600-63022000	Weak transcription	Fetal Heart	heart

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