Variant report

Variant	rs17014889
Chromosome Location	chr1:209784002-209784003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209778292..209780941-chr1:209782673..209784930,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489340	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12073223	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12089972	0.80[EUR][1000 genomes]
rs12090288	0.82[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12403733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410975	1.00[CEU][hapmap]
rs17014906	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014942	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014955	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2072937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072939	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2072942	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076349	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2076350	0.82[EUR][1000 genomes]
rs2076352	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229465	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2229466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2235542	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236889	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236890	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282734	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282736	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282737	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36051870	0.80[EUR][1000 genomes]
rs58679997	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59815577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60927005	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs714971	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:209771000-209787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:209776000-209790200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:209776000-209791000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:209777800-209793000	Weak transcription	Ovary	ovary
8	chr1:209777800-209796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:209778400-209791400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:209779400-209785800	Weak transcription	Fetal Stomach	stomach
11	chr1:209779600-209793400	Weak transcription	Thymus	Thymus
12	chr1:209780800-209791800	Weak transcription	Fetal Brain Male	brain
13	chr1:209781200-209784600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:209781200-209785400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:209781200-209786400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:209781200-209791800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:209781400-209787000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:209781400-209789200	Weak transcription	Right Atrium	heart
19	chr1:209781600-209793600	Weak transcription	Esophagus	oesophagus
20	chr1:209781600-209793600	Weak transcription	Fetal Lung	lung
21	chr1:209781800-209785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:209781800-209786200	Weak transcription	HMEC	breast
23	chr1:209781800-209786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:209781800-209787000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:209781800-209787400	Weak transcription	NHEK	skin
26	chr1:209781800-209788000	Weak transcription	Gastric	stomach
27	chr1:209782000-209787200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:209782400-209785400	Weak transcription	Spleen	Spleen
29	chr1:209782800-209785000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:209782800-209785800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:209783200-209784200	Enhancers	Fetal Heart	heart
32	chr1:209783400-209786800	Weak transcription	HSMMtube	muscle
33	chr1:209783600-209787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:209783800-209784800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:209783800-209788400	Weak transcription	Lung	lung
36	chr1:209784000-209784200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:209784000-209785400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:209784000-209786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:209784000-209788600	Weak transcription	Liver	Liver
40	chr1:209784000-209788600	Weak transcription	Right Ventricle	heart

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