Variant report

Variant	rs6434287
Chromosome Location	chr2:189385350-189385351
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10153666	1.00[AMR][1000 genomes]
rs10171583	1.00[AMR][1000 genomes]
rs10184797	1.00[AMR][1000 genomes]
rs10188279	0.82[YRI][hapmap]
rs10190630	1.00[AMR][1000 genomes]
rs10192679	1.00[AMR][1000 genomes]
rs10197598	1.00[AMR][1000 genomes]
rs10198965	1.00[AMR][1000 genomes]
rs10207510	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs10211425	1.00[AMR][1000 genomes]
rs10432433	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10439261	1.00[AMR][1000 genomes]
rs10804022	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10931365	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs11904835	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13386579	1.00[AMR][1000 genomes]
rs13391799	1.00[AMR][1000 genomes]
rs13392080	0.82[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs13393442	0.82[YRI][hapmap]
rs13399616	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs13399903	1.00[AMR][1000 genomes]
rs13401242	1.00[AMR][1000 genomes]
rs13401321	1.00[AMR][1000 genomes]
rs13401975	1.00[AMR][1000 genomes]
rs13402240	1.00[AMR][1000 genomes]
rs13403508	0.84[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs13403672	1.00[AMR][1000 genomes]
rs13404901	1.00[AMR][1000 genomes]
rs13411351	1.00[AMR][1000 genomes]
rs13411541	0.87[AFR][1000 genomes]
rs13414813	0.82[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs13418323	1.00[AMR][1000 genomes]
rs13423468	1.00[AMR][1000 genomes]
rs13424443	1.00[AMR][1000 genomes]
rs13426900	0.86[AFR][1000 genomes]
rs28528331	1.00[AMR][1000 genomes]
rs4667230	1.00[AFR][1000 genomes]
rs4667232	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59080597	1.00[AMR][1000 genomes]
rs6434282	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs6434283	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs6434284	0.94[AFR][1000 genomes]
rs6705869	1.00[AMR][1000 genomes]
rs6736780	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6742748	1.00[AMR][1000 genomes]
rs6744742	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs6748075	1.00[AMR][1000 genomes]
rs6761280	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7423329	0.84[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7423378	0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7579593	1.00[MEX][hapmap]
rs7580259	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs7589600	1.00[AMR][1000 genomes]
rs7592288	1.00[YRI][hapmap]
rs7593824	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9288156	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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:189361800-189392000	Weak transcription	Ovary	ovary
4	chr2:189371800-189394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189377000-189387400	Weak transcription	Fetal Lung	lung
6	chr2:189381000-189394200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:189381600-189387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:189382400-189393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:189382400-189394000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:189382800-189394800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
13	chr2:189383400-189386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:189383400-189388200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:189383400-189391200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:189383600-189387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:189383600-189389600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:189384400-189388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:189384600-189385800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189384800-189387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:189384800-189387600	Weak transcription	NHLF	lung
22	chr2:189384800-189388600	Weak transcription	HUVEC	blood vessel
23	chr2:189384800-189390400	Weak transcription	Fetal Stomach	stomach
24	chr2:189384800-189390400	Weak transcription	NHDF-Ad	bronchial
25	chr2:189384800-189391400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:189384800-189391800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:189384800-189395000	Weak transcription	Gastric	stomach
28	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:189385000-189387400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:189385200-189388800	Weak transcription	Osteobl	bone
31	chr2:189385200-189391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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