Variant report

Variant	rs2810934
Chromosome Location	chr1:119454286-119454287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1014098	0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17022302	1.00[MEX][hapmap]
rs17022901	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023092	0.86[ASW][hapmap]
rs17023129	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs17023211	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs2256171	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs2256826	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs2645286	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2645287	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645306	0.86[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs2645307	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs2765535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810933	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119429400-119490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:119437800-119461200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:119441800-119455600	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:119445800-119477200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:119446600-119470800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:119448000-119461800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:119448400-119459000	Strong transcription	Osteobl	bone
8	chr1:119449200-119454400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:119449200-119457400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:119450400-119462800	Weak transcription	Psoas Muscle	Psoas
11	chr1:119451400-119455400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:119452400-119462400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:119452600-119455800	Strong transcription	HSMM	muscle
14	chr1:119452600-119459000	Strong transcription	NHDF-Ad	bronchial
15	chr1:119453400-119454400	Enhancers	Liver	Liver
16	chr1:119453800-119454600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:119453800-119456200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:119453800-119469800	Weak transcription	HSMMtube	muscle
19	chr1:119454000-119454400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:119454000-119454600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:119454000-119454600	Enhancers	NHEK	skin
22	chr1:119454200-119454600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:119454200-119454600	Genic enhancers	Adipose Nuclei	Adipose
24	chr1:119454200-119454600	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links