Variant report

Variant	rs11065417
Chromosome Location	chr12:121497862-121497863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121442839..121443768-chr12:121497604..121498594,3	MCF-7	breast:
2	chr12:121462116..121464172-chr12:121497468..121500006,2	MCF-7	breast:
3	chr12:121463705..121464632-chr12:121497652..121498532,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11065413	1.00[EUR][1000 genomes]
rs11065414	1.00[ASN][1000 genomes]
rs11065415	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065416	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065426	1.00[EUR][1000 genomes]
rs12309186	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311339	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12321293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56740627	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58037687	1.00[EUR][1000 genomes]
rs60572958	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121495600-121498000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:121495600-121498000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:121497000-121498200	Weak transcription	Pancreas	Pancrea
4	chr12:121497200-121498000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:121497200-121498000	Enhancers	Fetal Muscle Leg	muscle
6	chr12:121497400-121498000	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:121497400-121498000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:121497400-121498000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:121497400-121498000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:121497400-121498000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:121497400-121498000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:121497400-121498000	Enhancers	Placenta	Placenta
13	chr12:121497400-121498000	Enhancers	Fetal Thymus	thymus
14	chr12:121497400-121498400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:121497400-121498400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:121497400-121498600	Active TSS	Rectal Smooth Muscle	rectum
17	chr12:121497600-121498000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:121497600-121498000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:121497600-121498000	Enhancers	Stomach Mucosa	stomach
20	chr12:121497600-121498000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr12:121497800-121498000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:121497800-121498000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:121497800-121498000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:121497800-121498000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:121497800-121498000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:121497800-121498000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:121497800-121498000	Enhancers	Primary B cells from cord blood	blood
28	chr12:121497800-121498000	Active TSS	Primary hematopoietic stem cells	blood
29	chr12:121497800-121498000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:121497800-121498000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:121497800-121498000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:121497800-121498000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:121497800-121498000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:121497800-121498000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:121497800-121498000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:121497800-121498000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:121497800-121498000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:121497800-121498000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:121497800-121498000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:121497800-121498000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr12:121497800-121498000	Active TSS	Thymus	Thymus
42	chr12:121497800-121498200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:121497800-121498200	Active TSS	Ovary	ovary
44	chr12:121497800-121498200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr12:121497800-121498200	Flanking Active TSS	HepG2	liver
46	chr12:121497800-121498200	Active TSS	Osteobl	bone
47	chr12:121497800-121498400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:121497800-121498400	Active TSS	Brain Hippocampus Middle	brain
49	chr12:121497800-121498400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:121497800-121498600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links