Variant report

Variant	rs2076225
Chromosome Location	chr1:209781681-209781682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209749053..209751120-chr1:209781399..209783226,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489338	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs11119309	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs12058586	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12069172	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12080730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094286	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17014799	0.82[ASN][1000 genomes]
rs17014808	0.83[ASN][1000 genomes]
rs17014842	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2072908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6690557	0.84[CHB][hapmap]
rs9429821	0.84[CHB][hapmap]
rs9429822	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430000	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9430001	0.86[CHB][hapmap]
rs9430005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:35 , 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	chr1:209772200-209783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:209776000-209790200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:209776000-209791000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:209777800-209793000	Weak transcription	Ovary	ovary
9	chr1:209777800-209796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:209778400-209791400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:209779400-209785800	Weak transcription	Fetal Stomach	stomach
12	chr1:209779600-209793400	Weak transcription	Thymus	Thymus
13	chr1:209780200-209781800	Enhancers	GM12878-XiMat	blood
14	chr1:209780200-209781800	Enhancers	NHEK	skin
15	chr1:209780200-209784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:209780400-209781800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:209780400-209781800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:209780400-209781800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:209780400-209781800	Enhancers	HMEC	breast
20	chr1:209780800-209791800	Weak transcription	Fetal Brain Male	brain
21	chr1:209781000-209781800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:209781000-209782800	Weak transcription	HSMMtube	muscle
23	chr1:209781200-209781800	Enhancers	Gastric	stomach
24	chr1:209781200-209782400	Strong transcription	Spleen	Spleen
25	chr1:209781200-209784600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:209781200-209785400	Weak transcription	Fetal Intestine Small	intestine
27	chr1:209781200-209786400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:209781200-209791800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:209781400-209782800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:209781400-209787000	Weak transcription	Fetal Intestine Large	intestine
31	chr1:209781400-209789200	Weak transcription	Right Atrium	heart
32	chr1:209781600-209783200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:209781600-209783200	Weak transcription	Fetal Heart	heart
34	chr1:209781600-209793600	Weak transcription	Esophagus	oesophagus
35	chr1:209781600-209793600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links