Variant report

Variant	rs34132424
Chromosome Location	chr2:152105091-152105092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152103117..152105386-chr2:152140432..152142822,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10167886	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10174715	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1023634	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10490523	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11679466	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12052565	0.88[ASN][1000 genomes]
rs12465426	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617724	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2194492	0.81[ASN][1000 genomes]
rs2278089	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2551671	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2880489	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs289828	0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs289829	0.82[GIH][hapmap];0.80[TSI][hapmap]
rs289835	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs289904	0.82[ASN][1000 genomes]
rs289905	0.82[ASN][1000 genomes]
rs289907	0.82[ASN][1000 genomes]
rs289921	0.82[ASN][1000 genomes]
rs35058039	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35499578	0.81[ASN][1000 genomes]
rs3771886	0.80[TSI][hapmap]
rs3771887	0.82[GIH][hapmap];0.80[TSI][hapmap]
rs3771888	0.82[GIH][hapmap];0.80[TSI][hapmap]
rs387297	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403411	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433327	0.90[CHB][hapmap]
rs6708382	0.90[CHB][hapmap]
rs6715393	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6726634	0.90[CHB][hapmap]
rs6747782	0.82[GIH][hapmap];0.80[TSI][hapmap]
rs6751802	0.82[GIH][hapmap]
rs9287955	0.90[CHB][hapmap]
rs9287956	0.90[CHB][hapmap]
rs9636292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34132424	TNFAIP6	cis	parietal	SCAN
rs34132424	TNFAIP6	cis	Whole Blood	GTEx
rs34132424	RBM43	cis	parietal	SCAN
rs34132424	NMI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152093000-152105200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:152094400-152105200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:152094400-152117000	Weak transcription	A549	lung
4	chr2:152095200-152105200	Weak transcription	Osteobl	bone
5	chr2:152095400-152105200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:152095400-152107200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:152095600-152105200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:152096000-152105200	Weak transcription	NHDF-Ad	bronchial
9	chr2:152098400-152105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:152098800-152105400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:152100000-152106200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:152101200-152105200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:152101600-152105600	Weak transcription	Aorta	Aorta
14	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
15	chr2:152102000-152116600	Weak transcription	Pancreas	Pancrea
16	chr2:152103000-152105200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:152103200-152105200	Weak transcription	Ovary	ovary
18	chr2:152103400-152105600	Weak transcription	NHLF	lung
19	chr2:152103400-152117600	Weak transcription	Gastric	stomach
20	chr2:152103600-152105200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:152103600-152105200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:152103600-152105400	Weak transcription	HSMM	muscle
23	chr2:152103800-152105200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:152103800-152106600	ZNF genes & repeats	Fetal Lung	lung
25	chr2:152103800-152107200	Weak transcription	Brain Angular Gyrus	brain
26	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
27	chr2:152104200-152105400	Weak transcription	HUVEC	blood vessel
28	chr2:152104400-152105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:152104400-152106800	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr2:152104400-152107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
32	chr2:152104600-152105200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:152104600-152105200	Weak transcription	Right Ventricle	heart
34	chr2:152104600-152105600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:152104600-152105800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr2:152104600-152105800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr2:152104600-152106600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr2:152104600-152107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
40	chr2:152104800-152105800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr2:152104800-152106600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr2:152104800-152106600	Strong transcription	Brain Hippocampus Middle	brain
43	chr2:152104800-152106600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr2:152105000-152105200	Strong transcription	Liver	Liver
45	chr2:152105000-152105400	Weak transcription	Fetal Thymus	thymus
46	chr2:152105000-152105800	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr2:152105000-152105800	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr2:152105000-152106400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr2:152105000-152106400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr2:152105000-152106400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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