Variant report

Variant	rs140496
Chromosome Location	chr22:21926456-21926457
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	chr22:21910242..21911830-chr22:21925513..21928236,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1034329	0.95[ASN][1000 genomes]
rs11089629	0.92[ASN][1000 genomes]
rs11089637	0.90[ASN][1000 genomes]
rs12158299	0.90[ASN][1000 genomes]
rs131656	0.93[ASN][1000 genomes]
rs131658	0.93[ASN][1000 genomes]
rs131660	0.83[ASN][1000 genomes]
rs131664	0.95[ASN][1000 genomes]
rs131665	0.95[ASN][1000 genomes]
rs140489	0.95[ASN][1000 genomes]
rs140490	0.95[ASN][1000 genomes]
rs140491	0.95[ASN][1000 genomes]
rs140492	0.95[ASN][1000 genomes]
rs140498	0.95[ASN][1000 genomes]
rs140499	0.95[ASN][1000 genomes]
rs1811069	0.85[ASN][1000 genomes]
rs181359	0.95[ASN][1000 genomes]
rs181360	0.95[ASN][1000 genomes]
rs181361	0.80[ASN][1000 genomes]
rs181363	0.95[ASN][1000 genomes]
rs181366	0.95[ASN][1000 genomes]
rs2070512	0.95[ASN][1000 genomes]
rs2266964	0.92[ASN][1000 genomes]
rs2283789	0.95[ASN][1000 genomes]
rs2283790	0.90[ASN][1000 genomes]
rs2298429	0.87[ASN][1000 genomes]
rs2876971	0.87[ASN][1000 genomes]
rs374387	0.81[ASN][1000 genomes]
rs3747093	0.87[ASN][1000 genomes]
rs4821108	0.92[ASN][1000 genomes]
rs4821112	0.90[ASN][1000 genomes]
rs4821130	0.89[ASN][1000 genomes]
rs5749485	0.95[ASN][1000 genomes]
rs5749493	0.95[ASN][1000 genomes]
rs5754217	0.95[ASN][1000 genomes]
rs5754238	0.90[ASN][1000 genomes]
rs5754295	0.93[ASN][1000 genomes]
rs5754323	0.91[ASN][1000 genomes]
rs5754352	0.90[ASN][1000 genomes]
rs5754422	0.89[ASN][1000 genomes]
rs5754426	0.89[ASN][1000 genomes]
rs5754467	0.87[ASN][1000 genomes]
rs5994638	0.93[ASN][1000 genomes]
rs5998576	0.95[ASN][1000 genomes]
rs5998599	0.94[ASN][1000 genomes]
rs5998619	0.92[ASN][1000 genomes]
rs5998644	0.93[ASN][1000 genomes]
rs5998672	0.89[ASN][1000 genomes]
rs66534072	0.95[ASN][1000 genomes]
rs710177	0.87[ASN][1000 genomes]
rs73166622	0.92[ASN][1000 genomes]
rs73166632	0.95[ASN][1000 genomes]
rs738127	0.90[ASN][1000 genomes]
rs7444	0.90[ASN][1000 genomes]
rs7445	0.87[ASN][1000 genomes]
rs8139079	0.90[ASN][1000 genomes]
rs861857	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs878825	0.88[ASN][1000 genomes]
rs9619386	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797853	chr22:21445008-21927194	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1065383	chr22:21462233-21929649	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv1815888	chr22:21486890-21947822	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1065490	chr22:21567219-21949226	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1056096	chr22:21567219-21951562	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv1825387	chr22:21609069-21932052	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1829198	chr22:21618311-21928852	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	esv1830853	chr22:21657204-21932252	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1797475	chr22:21683210-21950089	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1816994	chr22:21683210-21950089	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv1824349	chr22:21683210-21950089	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
12	esv1826188	chr22:21683210-21950089	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	esv1851345	chr22:21683210-21950089	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv428386	chr22:21683210-21950089	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	esv1844701	chr22:21699366-21928852	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	esv1807804	chr22:21726851-21928852	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
18	nsv834145	chr22:21775069-21950089	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
20	nsv1064360	chr22:21809185-21951562	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv1067125	chr22:21815854-21927890	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1060781	chr22:21815854-21929649	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs140496	UBE2L3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21923200-21929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr22:21923200-21929000	Enhancers	Fetal Heart	heart
3	chr22:21923200-21929800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:21923400-21926600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr22:21923400-21926800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr22:21923400-21927200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:21923400-21928800	Enhancers	Brain Substantia Nigra	brain
8	chr22:21923400-21929000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr22:21923400-21930600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:21924000-21928000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:21924000-21929000	Enhancers	Liver	Liver
12	chr22:21924000-21934000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:21924200-21926800	Weak transcription	Fetal Kidney	kidney
14	chr22:21924200-21929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr22:21924200-21929000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr22:21924200-21929200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:21924400-21926800	Enhancers	HepG2	liver
18	chr22:21924400-21927000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:21924400-21927000	Weak transcription	Lung	lung
20	chr22:21924400-21927200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:21924400-21927200	Weak transcription	Aorta	Aorta
22	chr22:21924400-21928600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:21924400-21941800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:21924400-21947400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:21924600-21927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:21924600-21927000	Weak transcription	Right Ventricle	heart
27	chr22:21924600-21927200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:21924600-21927200	Weak transcription	Colonic Mucosa	Colon
29	chr22:21924600-21927200	Weak transcription	Ovary	ovary
30	chr22:21924600-21927600	Weak transcription	HSMM	muscle
31	chr22:21924600-21928000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:21924600-21928400	Enhancers	Placenta	Placenta
33	chr22:21924600-21929200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr22:21924600-21929200	Enhancers	Fetal Intestine Large	intestine
35	chr22:21924800-21927200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr22:21924800-21928800	Genic enhancers	Primary T cells from cord blood	blood
37	chr22:21924800-21942000	Weak transcription	Fetal Brain Male	brain
38	chr22:21925000-21927000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:21925000-21927000	Weak transcription	Fetal Stomach	stomach
40	chr22:21925000-21927000	Weak transcription	Pancreas	Pancrea
41	chr22:21925000-21927000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr22:21925000-21927200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr22:21925000-21927200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:21925000-21927200	Weak transcription	Esophagus	oesophagus
45	chr22:21925000-21928400	Genic enhancers	Dnd41	blood
46	chr22:21925000-21941800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:21925200-21927000	Weak transcription	Fetal Brain Female	brain
48	chr22:21925200-21927400	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:21925200-21928000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:21925400-21928400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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