Variant report

Variant	rs11893772
Chromosome Location	chr2:181989311-181989312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11688120	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692625	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11893821	0.94[ASN][1000 genomes]
rs12999974	0.94[ASN][1000 genomes]
rs13004683	0.85[ASN][1000 genomes]
rs13004750	0.87[ASN][1000 genomes]
rs13011738	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13011751	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13012524	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13020845	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13026070	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13031518	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033467	0.94[ASN][1000 genomes]
rs34467063	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34504038	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34714467	0.94[ASN][1000 genomes]
rs34825850	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35076700	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35323141	0.98[ASN][1000 genomes]
rs35482602	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35543145	0.94[ASN][1000 genomes]
rs35702511	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35725888	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55900432	0.94[ASN][1000 genomes]
rs55954384	0.94[ASN][1000 genomes]
rs59639779	0.94[ASN][1000 genomes]
rs6743720	0.84[ASN][1000 genomes]
rs6746347	0.94[ASN][1000 genomes]
rs6759865	0.94[ASN][1000 genomes]
rs72887083	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7349232	0.87[ASN][1000 genomes]
rs7558428	0.94[ASN][1000 genomes]
rs7581267	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598960	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181985000-181990200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:181988400-181989400	Active TSS	Primary T cells fromperipheralblood	blood
3	chr2:181988400-181989400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:181988400-181989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:181988400-181989600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:181988400-181989600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:181988400-181989600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:181988400-181989600	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:181988400-181989600	Enhancers	HUVEC	blood vessel
10	chr2:181988400-181989600	Enhancers	NH-A	brain
11	chr2:181988400-181989800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:181988400-181990200	Active TSS	Fetal Thymus	thymus
13	chr2:181988400-181991400	Flanking Active TSS	Dnd41	blood
14	chr2:181988400-181991600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr2:181988600-181989400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:181988600-181989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:181988600-181989400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:181988600-181989600	Enhancers	HSMMtube	muscle
19	chr2:181988600-181989600	Enhancers	Osteobl	bone
20	chr2:181988600-181990200	Active TSS	Thymus	Thymus
21	chr2:181988600-181990400	Enhancers	HSMM	muscle
22	chr2:181988600-181990600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr2:181988600-181990800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:181988800-181989600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:181988800-181989600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr2:181988800-181989600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:181988800-181991600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr2:181989000-181989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:181989000-181989400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:181989000-181989600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:181989000-181989600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:181989000-181990000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:181989000-181990000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:181989000-181990000	Weak transcription	HMEC	breast
35	chr2:181989000-181992000	Weak transcription	NHEK	skin
36	chr2:181989200-181989600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:181989200-181991200	Enhancers	Muscle Satellite Cultured Cells	--

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