Variant report

Variant	rs11124278
Chromosome Location	chr2:32398512-32398513
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	chr2:32395858..32398697-chr2:32406981..32409057,2	K562	blood:
2	chr2:32397197..32398862-chr2:32406291..32408481,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10172468	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10208246	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11676475	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11678119	0.89[ASN][1000 genomes]
rs11683760	0.82[ASN][1000 genomes]
rs11683842	0.82[ASN][1000 genomes]
rs11694630	0.90[ASN][1000 genomes]
rs12465124	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12465351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12474598	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12614686	0.82[ASN][1000 genomes]
rs12995952	0.86[ASN][1000 genomes]
rs12997026	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13427170	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13431540	0.80[AMR][1000 genomes]
rs177083	0.86[EUR][1000 genomes]
rs212686	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs212687	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs212694	0.88[EUR][1000 genomes]
rs212703	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs212704	0.86[EUR][1000 genomes]
rs212713	0.89[EUR][1000 genomes]
rs212738	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212739	0.96[ASN][1000 genomes]
rs212740	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212741	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs212743	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs212744	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212745	0.80[ASN][1000 genomes]
rs212746	0.82[ASN][1000 genomes]
rs212748	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs212749	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212752	0.80[EUR][1000 genomes]
rs212753	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212755	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs212757	0.92[EUR][1000 genomes]
rs212762	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs216544	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2280973	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2366736	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2886393	0.85[ASN][1000 genomes]
rs34976640	0.85[ASN][1000 genomes]
rs3752917	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3769602	0.89[ASN][1000 genomes]
rs3769603	0.82[ASN][1000 genomes]
rs3851308	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3851310	0.81[ASN][1000 genomes]
rs4258846	0.97[ASN][1000 genomes]
rs4407291	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4519572	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952209	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952252	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55877106	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56208031	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62134021	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6716179	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6723154	0.82[ASN][1000 genomes]
rs6761417	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72863940	0.81[AMR][1000 genomes]
rs7572964	0.86[ASN][1000 genomes]
rs7581432	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7588883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592239	0.86[ASN][1000 genomes]
rs7592356	0.84[ASN][1000 genomes]
rs7604289	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391400-32401800	Weak transcription	Spleen	Spleen
2	chr2:32391400-32402000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:32391400-32402000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:32391600-32401800	Weak transcription	Gastric	stomach
5	chr2:32391600-32402000	Weak transcription	Esophagus	oesophagus
6	chr2:32391600-32402800	Weak transcription	Lung	lung
7	chr2:32391600-32403400	Weak transcription	Aorta	Aorta
8	chr2:32391600-32406600	Weak transcription	Small Intestine	intestine
9	chr2:32391600-32409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:32391800-32400200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:32391800-32400200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:32391800-32401800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:32391800-32409600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
17	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
18	chr2:32392000-32401800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:32392000-32401800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:32392000-32401800	Weak transcription	Fetal Stomach	stomach
21	chr2:32392000-32402000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:32392000-32402000	Weak transcription	Fetal Lung	lung
23	chr2:32392000-32402000	Weak transcription	Thymus	Thymus
24	chr2:32392000-32402200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:32392000-32403600	Weak transcription	Fetal Kidney	kidney
26	chr2:32392000-32403800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:32392000-32403800	Weak transcription	HSMMtube	muscle
28	chr2:32392000-32414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:32392000-32435800	Weak transcription	NHLF	lung
30	chr2:32392200-32402000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:32392200-32402000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:32392200-32402200	Weak transcription	Osteobl	bone
33	chr2:32392200-32403600	Weak transcription	HUVEC	blood vessel
34	chr2:32392200-32411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
36	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:32392400-32399000	Weak transcription	Fetal Heart	heart
38	chr2:32392400-32402000	Weak transcription	Pancreas	Pancrea
39	chr2:32392600-32400000	Weak transcription	NHDF-Ad	bronchial
40	chr2:32392800-32400800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:32392800-32410000	Weak transcription	Hela-S3	cervix
42	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:32393000-32399000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:32393000-32400400	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:32393000-32412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:32393200-32402200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:32395400-32405600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:32396000-32403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:32396200-32398800	Strong transcription	Primary hematopoietic stem cells	blood

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