Variant report

Variant	rs2622431
Chromosome Location	chr11:63894054-63894055
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	chr11:63891937..63894081-chr11:63896157..63898107,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2246552	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2254599	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254709	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2325785	0.85[AMR][1000 genomes]
rs2429457	0.86[YRI][hapmap]
rs2515239	0.85[AMR][1000 genomes]
rs2515240	0.89[ASW][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs2622413	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs2622414	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2622415	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2622416	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2622421	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2622423	0.85[AMR][1000 genomes]
rs2701525	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2701526	0.85[AMR][1000 genomes]
rs2701528	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2701529	0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2701532	0.85[AMR][1000 genomes]
rs2701535	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2701538	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2845587	0.85[AMR][1000 genomes]
rs2845589	0.89[ASW][hapmap];0.88[LWK][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2845591	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs2845595	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2845598	0.85[AMR][1000 genomes]
rs2845881	0.85[YRI][hapmap]
rs2845888	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4379854	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4980526	0.85[AMR][1000 genomes]
rs60647009	0.85[AMR][1000 genomes]
rs611637	0.83[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv897658	chr11:63810944-63897759	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
11	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
12	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
13	nsv356	chr11:63868847-63913129	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
15	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2622431	NUDT22	cis	multi-tissue	Pritchard
rs2622431	NUDT22	cis	lymphoblastoid	seeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63875400-63896200	Weak transcription	Spleen	Spleen
2	chr11:63885000-63896600	Weak transcription	Hela-S3	cervix
3	chr11:63885400-63898600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:63885600-63911200	Weak transcription	Gastric	stomach
5	chr11:63886800-63908600	Weak transcription	Ovary	ovary
6	chr11:63890000-63899000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:63890200-63898000	Weak transcription	Lung	lung
8	chr11:63890200-63899200	Weak transcription	Fetal Lung	lung
9	chr11:63890400-63894200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:63890400-63894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:63890600-63899200	Weak transcription	Left Ventricle	heart
12	chr11:63890600-63899400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
14	chr11:63890800-63894200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:63890800-63894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:63890800-63894600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:63890800-63895200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:63890800-63899200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:63890800-63899200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:63890800-63899400	Weak transcription	Right Atrium	heart
21	chr11:63891000-63898400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:63891000-63899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:63891200-63897400	Weak transcription	Fetal Brain Male	brain
24	chr11:63891200-63897400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:63891200-63898800	Weak transcription	Fetal Brain Female	brain
26	chr11:63891400-63896800	Weak transcription	Liver	Liver
27	chr11:63891600-63896600	Weak transcription	Brain Anterior Caudate	brain
28	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:63892200-63900400	Enhancers	Pancreas	Pancrea
30	chr11:63892400-63894200	Strong transcription	Fetal Intestine Small	intestine
31	chr11:63892400-63904400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:63893000-63899400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:63893200-63896000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:63893200-63896000	Enhancers	Brain Germinal Matrix	brain
35	chr11:63893200-63900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:63893400-63896000	Enhancers	Fetal Muscle Leg	muscle
37	chr11:63893400-63896200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:63893600-63894800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:63893600-63894800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:63893600-63895600	Weak transcription	Right Ventricle	heart
41	chr11:63893600-63896600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:63893600-63897400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:63893800-63894400	Bivalent Enhancer	Fetal Stomach	stomach
44	chr11:63893800-63895600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:63893800-63898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:63894000-63894400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:63894000-63894600	Enhancers	Brain Hippocampus Middle	brain
48	chr11:63894000-63898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:63894000-63898400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:63894000-63898400	Weak transcription	Fetal Thymus	thymus

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