Variant report

Variant	rs2154984
Chromosome Location	chr11:63915777-63915778
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63784829..63787587-chr11:63914162..63915972,2	K562	blood:
2	chr11:63751873..63754549-chr11:63914218..63916329,2	MCF-7	breast:
3	chr11:63763212..63764799-chr11:63914863..63917321,2	MCF-7	breast:
4	chr11:63914360..63917117-chr11:63971502..63975602,3	K562	blood:
5	chr11:63913975..63916375-chr11:63931973..63934844,2	MCF-7	breast:
6	chr11:63914043..63916614-chr11:63918167..63922101,5	MCF-7	breast:
7	chr11:63907528..63910274-chr11:63911901..63915955,5	K562	blood:
8	chr11:63533888..63537247-chr11:63914540..63918080,3	K562	blood:
9	chr11:63915599..63917353-chr11:63931228..63933635,2	K562	blood:

No data

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

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11549691	0.85[EUR][1000 genomes]
rs1544538	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17851033	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1938817	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070232	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2186571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622422	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701536	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701539	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4980504	1.00[YRI][hapmap]
rs4980506	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs583799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59250939	0.89[EUR][1000 genomes]
rs599549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs615924	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs616652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs688241	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2154984	PRDX5	Cis_1M	lymphoblastoid	RTeQTL
rs2154984	HSPC152	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:63897200-63918400	Weak transcription	Dnd41	blood
4	chr11:63898800-63916400	Weak transcription	Hela-S3	cervix
5	chr11:63900200-63931800	Weak transcription	Lung	lung
6	chr11:63900400-63916000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:63900800-63916200	Weak transcription	Liver	Liver
8	chr11:63902000-63916600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:63909600-63916000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:63911400-63920200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:63911600-63915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:63911600-63919800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:63911600-63920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
15	chr11:63911800-63916000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:63911800-63916000	Weak transcription	Fetal Thymus	thymus
17	chr11:63911800-63920200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:63912600-63915800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:63913800-63916000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:63914000-63915800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:63914000-63921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:63914200-63916000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:63914200-63916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:63914200-63917200	Weak transcription	Gastric	stomach
25	chr11:63914200-63918000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:63914200-63919000	Weak transcription	HepG2	liver
27	chr11:63914200-63920200	Weak transcription	K562	blood
28	chr11:63914400-63915800	Weak transcription	A549	lung
29	chr11:63914400-63916600	Weak transcription	Spleen	Spleen
30	chr11:63914400-63918400	Weak transcription	Esophagus	oesophagus
31	chr11:63914400-63920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:63915200-63915800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:63915200-63916000	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:63915200-63916800	Enhancers	Fetal Lung	lung
35	chr11:63915200-63918800	Enhancers	Fetal Brain Male	brain
36	chr11:63915400-63915800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:63915400-63915800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:63915400-63915800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr11:63915400-63915800	Enhancers	Brain Hippocampus Middle	brain
40	chr11:63915400-63915800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:63915400-63915800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr11:63915400-63915800	Enhancers	Fetal Stomach	stomach
43	chr11:63915400-63915800	Enhancers	Ovary	ovary
44	chr11:63915400-63915800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:63915400-63915800	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:63915400-63916000	Enhancers	Fetal Heart	heart
47	chr11:63915400-63916000	Enhancers	Fetal Muscle Leg	muscle
48	chr11:63915400-63916000	Enhancers	Rectal Smooth Muscle	rectum
49	chr11:63915400-63916200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:63915400-63916400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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