Variant report

Variant	rs11225223
Chromosome Location	chr11:102230180-102230181
allele	A/C
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	SETDB1	chr11:102230097-102230682	U2OS	brain:	n/a	n/a
2	CBX3	chr11:102230102-102230449	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
2	chr11:102217363..102223592-chr11:102226307..102231269,9	K562	blood:

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10082693	1.00[AMR][1000 genomes]
rs10219215	0.87[AFR][1000 genomes]
rs10466639	1.00[AMR][1000 genomes]
rs11225219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225228	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225245	1.00[AMR][1000 genomes]
rs11225246	1.00[AMR][1000 genomes]
rs11604189	0.91[AFR][1000 genomes]
rs11607214	0.91[AFR][1000 genomes]
rs12270723	1.00[AMR][1000 genomes]
rs12270893	1.00[AMR][1000 genomes]
rs12271569	1.00[AMR][1000 genomes]
rs12273819	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275349	0.91[AFR][1000 genomes]
rs12278619	1.00[AMR][1000 genomes]
rs12279712	1.00[AMR][1000 genomes]
rs12279854	1.00[AMR][1000 genomes]
rs12281328	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283520	1.00[AMR][1000 genomes]
rs12283923	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288938	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290870	1.00[AMR][1000 genomes]
rs12291210	0.80[AFR][1000 genomes]
rs12291456	1.00[AMR][1000 genomes]
rs12293263	1.00[AMR][1000 genomes]
rs12294170	1.00[AMR][1000 genomes]
rs12295864	1.00[AMR][1000 genomes]
rs12296030	1.00[AMR][1000 genomes]
rs12792649	0.91[AFR][1000 genomes]
rs13377309	1.00[AMR][1000 genomes]
rs13377312	1.00[AMR][1000 genomes]
rs34104132	0.91[AFR][1000 genomes]
rs36039928	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971623	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102218800-102231600	Weak transcription	Spleen	Spleen
2	chr11:102219000-102231600	Weak transcription	Gastric	stomach
3	chr11:102219000-102231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:102219200-102230200	Weak transcription	Right Ventricle	heart
5	chr11:102219200-102231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:102219200-102231600	Weak transcription	Esophagus	oesophagus
7	chr11:102219200-102231800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:102219200-102231800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:102219200-102234400	Weak transcription	Psoas Muscle	Psoas
10	chr11:102219200-102234600	Weak transcription	Ovary	ovary
11	chr11:102219200-102238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:102219200-102239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:102219400-102231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:102219600-102230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:102219600-102231600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
17	chr11:102220800-102231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:102220800-102240000	Strong transcription	Liver	Liver
19	chr11:102221000-102230200	Weak transcription	Small Intestine	intestine
20	chr11:102221000-102231600	Weak transcription	Aorta	Aorta
21	chr11:102221200-102230200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:102221200-102231000	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:102221200-102231400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:102221200-102239800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:102221400-102230400	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:102221400-102233200	Weak transcription	HSMMtube	muscle
27	chr11:102221600-102230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:102221800-102230400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:102221800-102231600	Weak transcription	NHLF	lung
30	chr11:102222200-102230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:102222200-102230400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:102222200-102234600	Weak transcription	K562	blood
33	chr11:102222400-102231400	Weak transcription	Pancreas	Pancrea
34	chr11:102223400-102231600	Weak transcription	Colonic Mucosa	Colon
35	chr11:102223800-102239800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:102224000-102231600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:102224400-102230800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:102224800-102230200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:102224800-102231600	Weak transcription	Left Ventricle	heart
40	chr11:102225000-102231600	Weak transcription	Lung	lung
41	chr11:102225200-102230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:102225200-102230800	Weak transcription	NHEK	skin
43	chr11:102225200-102231000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:102225200-102231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:102225400-102230400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:102225400-102231600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:102225400-102231800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
49	chr11:102225800-102230800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr11:102226000-102230200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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