Variant report

Variant	rs12288417
Chromosome Location	chr11:62585481-62585482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr11:62585412-62585569	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62585243..62587847-chr11:62621870..62623802,2	K562	blood:

Variant related genes	Relation type
RNU6-118P	TF binding region
RN7SL119P	TF binding region
ENSG00000168003	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	1.00[AMR][1000 genomes]
rs58792209	1.00[AMR][1000 genomes]
rs59143369	1.00[AMR][1000 genomes]
rs61088491	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes]
rs73483978	1.00[AMR][1000 genomes]
rs73485621	1.00[AMR][1000 genomes]
rs73485634	1.00[AMR][1000 genomes]
rs73485689	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' 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	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62573400-62587000	Weak transcription	Gastric	stomach
2	chr11:62573400-62587200	Weak transcription	Ovary	ovary
3	chr11:62573400-62591400	Weak transcription	Stomach Mucosa	stomach
4	chr11:62573600-62587200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:62573800-62587000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:62573800-62588600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:62573800-62589000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:62573800-62589800	Weak transcription	A549	lung
9	chr11:62574000-62586800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:62574000-62586800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:62574000-62587000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:62574000-62587000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:62574000-62588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:62574000-62589200	Weak transcription	Aorta	Aorta
15	chr11:62574000-62590000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:62574000-62590400	Weak transcription	Fetal Kidney	kidney
17	chr11:62574000-62591000	Weak transcription	Fetal Brain Male	brain
18	chr11:62574000-62591400	Weak transcription	Small Intestine	intestine
19	chr11:62574200-62586000	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:62574200-62586800	Weak transcription	Brain Substantia Nigra	brain
21	chr11:62574200-62587200	Weak transcription	Right Ventricle	heart
22	chr11:62574200-62587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:62574200-62588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:62574200-62588800	Weak transcription	Colonic Mucosa	Colon
25	chr11:62574200-62590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:62574400-62587400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:62574400-62588600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:62574600-62585600	Weak transcription	Left Ventricle	heart
29	chr11:62574600-62587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:62574600-62589000	Weak transcription	Esophagus	oesophagus
31	chr11:62574600-62589600	Weak transcription	GM12878-XiMat	blood
32	chr11:62574800-62589000	Weak transcription	Psoas Muscle	Psoas
33	chr11:62574800-62594600	Weak transcription	Fetal Heart	heart
34	chr11:62575000-62589800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:62575000-62589800	Weak transcription	NHDF-Ad	bronchial
36	chr11:62575000-62590000	Weak transcription	NHEK	skin
37	chr11:62575200-62589800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:62575200-62589800	Weak transcription	Fetal Lung	lung
39	chr11:62579400-62589800	Weak transcription	K562	blood
40	chr11:62579600-62587200	Weak transcription	HepG2	liver
41	chr11:62580200-62596400	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:62580600-62594600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:62580600-62596400	Strong transcription	Placenta	Placenta
44	chr11:62580600-62597000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:62580600-62597000	Strong transcription	Fetal Intestine Small	intestine
46	chr11:62580600-62597600	Strong transcription	Osteobl	bone
47	chr11:62580600-62598000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:62580800-62595600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:62580800-62596000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:62580800-62596600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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