Variant report

Variant	rs7122408
Chromosome Location	chr11:63898826-63898827
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63897701..63899645-chr11:63901287..63903042,2	K562	blood:
2	chr11:63788062..63790678-chr11:63896459..63899438,2	K562	blood:
3	chr11:63894649..63896789-chr11:63898167..63901854,5	MCF-7	breast:
4	chr11:63896044..63898939-chr11:63908774..63911161,2	MCF-7	breast:
5	chr11:63894757..63897753-chr11:63898307..63901137,2	K562	blood:
6	chr11:63898040..63900955-chr11:63917513..63921535,3	K562	blood:
7	chr11:63882915..63884582-chr11:63898261..63900223,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1011219	0.81[EUR][1000 genomes]
rs11231710	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231713	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231726	0.81[EUR][1000 genomes]
rs11600628	0.81[EUR][1000 genomes]
rs11600667	0.84[EUR][1000 genomes]
rs11604083	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11605193	0.84[EUR][1000 genomes]
rs11605856	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11607903	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12417635	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17773078	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2005272	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2096706	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2186572	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3862371	0.84[EUR][1000 genomes]
rs55942618	0.88[EUR][1000 genomes]
rs55970968	0.81[EUR][1000 genomes]
rs56207008	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56311067	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57021319	0.81[EUR][1000 genomes]
rs60394481	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7103915	0.80[EUR][1000 genomes]
rs7109921	0.81[EUR][1000 genomes]
rs7123026	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs734762	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7941773	0.80[EUR][1000 genomes]
rs947939	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
rs7122408	NUDT22	Cis_1M	lymphoblastoid	RTeQTL
rs7122408	FLRT1	cis	brain	BrainEAC

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63885600-63911200	Weak transcription	Gastric	stomach
2	chr11:63886800-63908600	Weak transcription	Ovary	ovary
3	chr11:63890000-63899000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:63890200-63899200	Weak transcription	Fetal Lung	lung
5	chr11:63890600-63899200	Weak transcription	Left Ventricle	heart
6	chr11:63890600-63899400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
8	chr11:63890800-63899200	Weak transcription	Brain Angular Gyrus	brain
9	chr11:63890800-63899200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:63890800-63899400	Weak transcription	Right Atrium	heart
11	chr11:63891000-63899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:63892200-63900400	Enhancers	Pancreas	Pancrea
14	chr11:63892400-63904400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:63893000-63899400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:63893200-63900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:63894000-63899000	Weak transcription	Primary T cells from cord blood	blood
18	chr11:63894400-63900400	Enhancers	Fetal Intestine Large	intestine
19	chr11:63894600-63899200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:63894800-63899200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:63895600-63899600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:63895800-63899200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:63896000-63899000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:63896000-63899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:63896000-63899400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:63896600-63901200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:63896600-63906600	Weak transcription	Spleen	Spleen
29	chr11:63896600-63909000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:63897000-63899200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:63897000-63900400	Enhancers	Fetal Intestine Small	intestine
32	chr11:63897200-63901600	Enhancers	HepG2	liver
33	chr11:63897200-63918400	Weak transcription	Dnd41	blood
34	chr11:63897400-63899200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:63897400-63899800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:63897400-63901400	Enhancers	Fetal Brain Male	brain
37	chr11:63897800-63899400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr11:63897800-63900600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:63897800-63900800	Enhancers	Fetal Muscle Leg	muscle
40	chr11:63898000-63899000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:63898000-63899200	Enhancers	Brain Germinal Matrix	brain
42	chr11:63898000-63899600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:63898000-63900200	Enhancers	Lung	lung
44	chr11:63898000-63901800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:63898200-63899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:63898200-63899000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:63898200-63899600	Weak transcription	Liver	Liver
48	chr11:63898200-63901000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr11:63898200-63901200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:63898200-63902200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links