Variant report

Variant	rs2622414
Chromosome Location	chr11:63916968-63916969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63916625..63918518-chr11:63924458..63926183,2	MCF-7	breast:
2	chr11:63916568..63919170-chr11:63931841..63933919,2	MCF-7	breast:
3	chr11:63916483..63918216-chr11:63918316..63920658,3	K562	blood:
4	chr11:63763212..63764799-chr11:63914863..63917321,2	MCF-7	breast:
5	chr11:63914360..63917117-chr11:63971502..63975602,3	K562	blood:
6	chr11:63766541..63768759-chr11:63916221..63917981,2	MCF-7	breast:
7	chr11:63533888..63537247-chr11:63914540..63918080,3	K562	blood:
8	chr11:63915599..63917353-chr11:63931228..63933635,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000167770	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2246552	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254599	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2254709	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2325785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2515239	1.00[AMR][1000 genomes]
rs2515240	0.80[YRI][hapmap]
rs2622413	0.80[YRI][hapmap];0.87[AMR][1000 genomes]
rs2622415	0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2622416	0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2622421	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2622423	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2622431	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2701525	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2701526	1.00[AMR][1000 genomes]
rs2701528	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2701529	0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2701532	1.00[AMR][1000 genomes]
rs2701535	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2701538	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2845587	1.00[AMR][1000 genomes]
rs2845589	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2845591	0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2845595	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2845598	1.00[AMR][1000 genomes]
rs2845881	0.90[YRI][hapmap]
rs4379854	1.00[YRI][hapmap]
rs4980526	1.00[AMR][1000 genomes]
rs60647009	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
8	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
9	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
10	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
11	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
12	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
13	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2622414	NUDT22	cis	multi-tissue	Pritchard

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:63897200-63918400	Weak transcription	Dnd41	blood
3	chr11:63900200-63931800	Weak transcription	Lung	lung
4	chr11:63911400-63920200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:63911600-63919800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:63911600-63920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
8	chr11:63911800-63920200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:63914000-63921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:63914200-63917200	Weak transcription	Gastric	stomach
11	chr11:63914200-63918000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:63914200-63919000	Weak transcription	HepG2	liver
13	chr11:63914200-63920200	Weak transcription	K562	blood
14	chr11:63914400-63918400	Weak transcription	Esophagus	oesophagus
15	chr11:63914400-63920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:63915200-63918800	Enhancers	Fetal Brain Male	brain
17	chr11:63915400-63917000	Enhancers	Pancreas	Pancrea
18	chr11:63915400-63917200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:63915400-63917400	Enhancers	Brain Substantia Nigra	brain
20	chr11:63915400-63917400	Enhancers	Colon Smooth Muscle	Colon
21	chr11:63915400-63917600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:63915400-63919000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:63915400-63919000	Enhancers	Right Ventricle	heart
24	chr11:63915600-63919000	Enhancers	Left Ventricle	heart
25	chr11:63915600-63919000	Enhancers	Psoas Muscle	Psoas
26	chr11:63916000-63917400	Enhancers	Brain Angular Gyrus	brain
27	chr11:63916000-63918200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:63916000-63918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:63916000-63920200	Weak transcription	Colonic Mucosa	Colon
30	chr11:63916200-63917000	Enhancers	Brain Anterior Caudate	brain
31	chr11:63916200-63917200	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:63916200-63917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:63916200-63917400	Enhancers	Brain Hippocampus Middle	brain
34	chr11:63916200-63917400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:63916200-63917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:63916200-63918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63916200-63918600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:63916200-63920000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:63916200-63920200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:63916200-63920200	Weak transcription	NH-A	brain
41	chr11:63916200-63920400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:63916200-63920400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:63916200-63920400	Weak transcription	A549	lung
44	chr11:63916200-63920800	Enhancers	Liver	Liver
45	chr11:63916200-63921000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:63916200-63924200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:63916400-63917200	Enhancers	Rectal Smooth Muscle	rectum
49	chr11:63916400-63917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:63916400-63917800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links