Variant report

Variant	rs11832165
Chromosome Location	chr12:104613380-104613381
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104612995..104613559-chr12:104680521..104681023,2	Hela-S3	cervix:
2	chr12:104612288..104614036-chr12:104992703..104994366,2	K562	blood:
3	chr12:104611588..104614072-chr12:104619313..104622128,3	K562	blood:
4	chr12:104611665..104617222-chr12:104678192..104683063,15	MCF-7	breast:
5	chr12:104611975..104613835-chr12:104679727..104682653,3	K562	blood:
6	chr12:104605545..104609502-chr12:104611890..104614832,4	MCF-7	breast:
7	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
8	chr12:104612436..104616572-chr12:104617042..104624166,8	MCF-7	breast:
9	chr12:104603545..104605144-chr12:104611962..104614004,2	K562	blood:
10	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
11	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10861174	0.94[ASN][1000 genomes]
rs11111948	0.88[ASN][1000 genomes]
rs11111949	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11832923	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833441	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838096	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11838099	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12299988	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12312443	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17035284	1.00[ASN][1000 genomes]
rs17806577	0.94[ASN][1000 genomes]
rs28651552	0.82[ASN][1000 genomes]
rs35009941	1.00[EUR][1000 genomes]
rs35456434	1.00[EUR][1000 genomes]
rs35531900	1.00[EUR][1000 genomes]
rs41453549	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56406045	0.82[ASN][1000 genomes]
rs57036458	1.00[ASN][1000 genomes]
rs57066809	0.95[AFR][1000 genomes]
rs58420147	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59097029	0.94[ASN][1000 genomes]
rs59259947	0.88[ASN][1000 genomes]
rs60333117	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61109788	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61116111	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61234792	0.94[ASN][1000 genomes]
rs61485460	1.00[ASN][1000 genomes]
rs61497238	1.00[ASN][1000 genomes]
rs61665972	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7313573	0.94[ASN][1000 genomes]
rs7979713	0.87[ASN][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	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:104610200-104613600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:104610200-104613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:104610200-104614800	Weak transcription	Gastric	stomach
5	chr12:104610400-104613400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:104610400-104613400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:104610400-104613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:104610400-104613600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:104610400-104613600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:104610400-104613600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:104610400-104613600	Enhancers	HUVEC	blood vessel
12	chr12:104610400-104613800	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:104610600-104613400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:104610800-104613800	Weak transcription	Right Atrium	heart
15	chr12:104610800-104614800	Weak transcription	Ovary	ovary
16	chr12:104611800-104613600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:104612000-104613600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:104612000-104613800	Enhancers	NHLF	lung
19	chr12:104612000-104614000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:104612000-104615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:104612200-104613600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:104612200-104613600	Enhancers	HSMMtube	muscle
23	chr12:104612200-104613600	Enhancers	NHDF-Ad	bronchial
24	chr12:104612200-104614200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:104612200-104615000	Enhancers	HMEC	breast
26	chr12:104612200-104617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:104612400-104613600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:104612400-104614200	Enhancers	HSMM	muscle
29	chr12:104612400-104616400	Enhancers	Placenta	Placenta
30	chr12:104612600-104613400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:104612600-104615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:104612800-104613400	Enhancers	Osteobl	bone
33	chr12:104612800-104613600	Weak transcription	Right Ventricle	heart
34	chr12:104612800-104614000	Enhancers	Brain Substantia Nigra	brain
35	chr12:104612800-104614000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:104612800-104614000	Enhancers	Pancreas	Pancrea
37	chr12:104612800-104614200	Enhancers	Colon Smooth Muscle	Colon
38	chr12:104612800-104614200	Flanking Active TSS	Hela-S3	cervix
39	chr12:104612800-104614200	Enhancers	K562	blood
40	chr12:104612800-104614200	Flanking Active TSS	NH-A	brain
41	chr12:104612800-104614400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:104612800-104614400	Enhancers	Fetal Intestine Large	intestine
43	chr12:104612800-104614800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:104612800-104615000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:104612800-104615000	Enhancers	Fetal Stomach	stomach
46	chr12:104613000-104613400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:104613000-104613400	Weak transcription	Small Intestine	intestine
48	chr12:104613000-104613400	Enhancers	NHEK	skin
49	chr12:104613000-104613800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:104613000-104613800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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