Variant report

Variant	rs16862938
Chromosome Location	chr1:169986032-169986033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10494479	1.00[YRI][hapmap]
rs12119299	1.00[YRI][hapmap]
rs12121797	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12124907	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12127120	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12131603	1.00[YRI][hapmap]
rs12133115	1.00[YRI][hapmap]
rs12136554	1.00[YRI][hapmap]
rs12139141	1.00[YRI][hapmap]
rs12141377	1.00[YRI][hapmap]
rs12145614	1.00[YRI][hapmap]
rs1321657	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16862864	1.00[AMR][1000 genomes]
rs16862894	1.00[AMR][1000 genomes]
rs16862898	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862900	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862913	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862917	1.00[AMR][1000 genomes]
rs16862922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862959	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862967	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862971	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862987	1.00[AMR][1000 genomes]
rs16862993	1.00[AMR][1000 genomes]
rs16862995	1.00[AMR][1000 genomes]
rs16863007	1.00[AMR][1000 genomes]
rs17345663	1.00[YRI][hapmap]
rs17349740	0.81[AFR][1000 genomes]
rs2050650	1.00[AMR][1000 genomes]
rs2474698	1.00[YRI][hapmap]
rs36022648	1.00[AMR][1000 genomes]
rs4431903	1.00[AMR][1000 genomes]
rs506196	1.00[YRI][hapmap]
rs545954	1.00[YRI][hapmap]
rs562837	1.00[YRI][hapmap]
rs59446257	1.00[AMR][1000 genomes]
rs606689	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs60825089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60843604	1.00[AMR][1000 genomes]
rs60933865	1.00[AMR][1000 genomes]
rs674896	1.00[YRI][hapmap]
rs675394	1.00[YRI][hapmap]
rs680269	1.00[YRI][hapmap]

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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
5	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:169956800-169997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
10	chr1:169968800-169999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:169968800-170010800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:169969000-169997400	Weak transcription	Fetal Stomach	stomach
14	chr1:169969000-170012600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:169969200-169988800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
17	chr1:169971400-169996400	Weak transcription	NHDF-Ad	bronchial
18	chr1:169976600-169989600	Weak transcription	Brain Germinal Matrix	brain
19	chr1:169979400-169995800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:169979400-170018000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:169979600-169987800	Weak transcription	HSMM	muscle
22	chr1:169979800-170015200	Weak transcription	HMEC	breast
23	chr1:169980000-170006600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:169980200-169989400	Weak transcription	Fetal Kidney	kidney
25	chr1:169980400-169989200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:169980600-169997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:169981400-169986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:169981600-170013400	Weak transcription	Lung	lung
29	chr1:169982000-169986200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:169982000-169987000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:169982200-169986200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:169982200-169986200	Strong transcription	Primary T cells from cord blood	blood
33	chr1:169982400-170020600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:169982800-169986200	Strong transcription	Adipose Nuclei	Adipose
35	chr1:169982800-169994000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:169983000-169986400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:169983000-170017200	Weak transcription	HSMMtube	muscle
38	chr1:169983400-169995400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:169983400-169996000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:169983800-169989400	Weak transcription	Right Ventricle	heart
41	chr1:169983800-170017600	Weak transcription	Spleen	Spleen
42	chr1:169984000-169986200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:169984000-169986400	Strong transcription	Left Ventricle	heart
44	chr1:169984400-169986200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:169984600-169986200	Strong transcription	Liver	Liver
46	chr1:169984600-169986200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:169984600-169986400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr1:169984600-169987000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:169984600-170020800	Weak transcription	Gastric	stomach
50	chr1:169984800-169986200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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