Variant report

Variant	rs11123793
Chromosome Location	chr2:100344862-100344863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10175788	0.89[ASN][1000 genomes]
rs10182690	0.87[ASN][1000 genomes]
rs10191816	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199818	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204617	0.86[EUR][1000 genomes]
rs10496340	0.86[EUR][1000 genomes]
rs10865032	0.85[EUR][1000 genomes]
rs11123794	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123795	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123796	0.86[EUR][1000 genomes]
rs11682978	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690403	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11888741	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13000055	0.84[AMR][1000 genomes]
rs13010551	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13030932	0.96[ASN][1000 genomes]
rs13407928	0.96[ASN][1000 genomes]
rs13428668	0.98[ASN][1000 genomes]
rs1404175	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1404176	0.96[ASN][1000 genomes]
rs1404177	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464757	0.96[ASN][1000 genomes]
rs2030690	0.85[ASN][1000 genomes]
rs2043007	0.82[AFR][1000 genomes]
rs2091150	0.84[ASN][1000 genomes]
rs2115600	0.86[EUR][1000 genomes]
rs2115601	0.87[ASN][1000 genomes]
rs2163044	0.91[ASN][1000 genomes]
rs2309650	0.86[EUR][1000 genomes]
rs2309690	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309729	0.83[ASN][1000 genomes]
rs2871316	0.86[ASN][1000 genomes]
rs34116173	0.96[ASN][1000 genomes]
rs34369751	0.96[ASN][1000 genomes]
rs3863005	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3863006	0.98[ASN][1000 genomes]
rs3915083	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4332968	0.93[ASN][1000 genomes]
rs4850914	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851225	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851226	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851228	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851229	0.98[ASN][1000 genomes]
rs4851230	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851231	0.86[EUR][1000 genomes]
rs4851232	0.86[ASN][1000 genomes]
rs4851234	0.86[ASN][1000 genomes]
rs62147565	0.86[EUR][1000 genomes]
rs6542890	0.98[ASN][1000 genomes]
rs6542891	0.86[ASN][1000 genomes]
rs6705966	0.87[ASN][1000 genomes]
rs6708339	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6721652	0.89[ASN][1000 genomes]
rs6732358	0.87[ASN][1000 genomes]
rs6739478	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739601	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741990	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6744510	0.93[ASN][1000 genomes]
rs6746146	0.93[ASN][1000 genomes]
rs6748557	0.93[ASN][1000 genomes]
rs6756009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6756821	0.89[ASN][1000 genomes]
rs6757262	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6758027	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559975	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561009	0.84[ASN][1000 genomes]
rs7565155	0.87[ASN][1000 genomes]
rs7573572	0.87[ASN][1000 genomes]
rs7582469	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584365	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7589376	0.86[ASN][1000 genomes]
rs7602699	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7604536	0.87[ASN][1000 genomes]
rs868665	0.86[ASN][1000 genomes]
rs9308829	0.91[ASN][1000 genomes]
rs940458	0.86[ASN][1000 genomes]
rs9967704	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100339000-100345200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:100340600-100345400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100342200-100345600	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100343200-100347600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:100343600-100345000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:100343600-100345400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:100343600-100346200	Enhancers	Fetal Lung	lung
8	chr2:100343600-100346800	Enhancers	Fetal Brain Male	brain
9	chr2:100343800-100346600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:100344000-100345000	Weak transcription	Fetal Brain Female	brain
11	chr2:100344000-100345600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:100344000-100360200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:100344200-100346400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:100344200-100346600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:100344400-100346400	Strong transcription	Primary T cells from cord blood	blood
16	chr2:100344400-100346400	Enhancers	Left Ventricle	heart
17	chr2:100344400-100346400	Enhancers	Ovary	ovary
18	chr2:100344400-100346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:100344400-100346800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:100344400-100347400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:100344600-100345000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:100344600-100345200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:100344600-100345600	Weak transcription	Aorta	Aorta
24	chr2:100344600-100346600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:100344800-100346000	Enhancers	Placenta	Placenta
26	chr2:100344800-100346000	Enhancers	Right Ventricle	heart
27	chr2:100344800-100346200	Enhancers	Fetal Kidney	kidney
28	chr2:100344800-100346800	Enhancers	Fetal Heart	heart
29	chr2:100344800-100346800	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links