Variant report

Variant	rs11465939
Chromosome Location	chr12:66583735-66583736
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66575489..66578360-chr12:66583089..66585352,2	K562	blood:
2	chr12:66583600..66585977-chr12:66589320..66590902,2	MCF-7	breast:
3	chr12:66578489..66581069-chr12:66583580..66586870,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11176069	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176074	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176075	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168743	1.00[ASN][1000 genomes]
rs11832980	0.86[EUR][1000 genomes]
rs11836532	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297278	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311209	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312119	0.86[EUR][1000 genomes]
rs17102065	1.00[ASN][1000 genomes]
rs17102070	1.00[ASN][1000 genomes]
rs17102107	0.92[EUR][1000 genomes]
rs1797411	1.00[ASN][1000 genomes]
rs1921081	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967338	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34557475	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195926	0.86[EUR][1000 genomes]
rs58265032	0.86[EUR][1000 genomes]
rs61209657	0.86[EUR][1000 genomes]
rs61387333	0.92[EUR][1000 genomes]
rs61648127	0.86[EUR][1000 genomes]
rs726302	0.86[EUR][1000 genomes]
rs7307195	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73327332	0.86[EUR][1000 genomes]
rs73327334	0.86[EUR][1000 genomes]
rs7960539	1.00[ASN][1000 genomes]
rs7963270	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66582400-66584200	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:66582400-66584600	Active TSS	NHDF-Ad	bronchial
3	chr12:66582400-66585400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:66582400-66586000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:66582600-66583800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:66582600-66583800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:66582600-66583800	Active TSS	Aorta	Aorta
8	chr12:66582600-66583800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:66582600-66584400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:66582600-66584400	Active TSS	Fetal Lung	lung
11	chr12:66582600-66584400	Flanking Active TSS	HUVEC	blood vessel
12	chr12:66582600-66584400	Active TSS	NHLF	lung
13	chr12:66582800-66583800	Active TSS	Colon Smooth Muscle	Colon
14	chr12:66582800-66584000	Active TSS	Fetal Kidney	kidney
15	chr12:66582800-66584200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:66582800-66584200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:66582800-66584400	Active TSS	Primary T cells from cord blood	blood
18	chr12:66582800-66584800	Active TSS	Right Atrium	heart
19	chr12:66583000-66583800	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:66583000-66583800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr12:66583000-66583800	Active TSS	Placenta	Placenta
22	chr12:66583000-66583800	Active TSS	Left Ventricle	heart
23	chr12:66583000-66584000	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:66583000-66584000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:66583000-66584000	Active TSS	Liver	Liver
26	chr12:66583000-66584200	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:66583000-66584400	Active TSS	Fetal Muscle Leg	muscle
28	chr12:66583000-66584600	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:66583000-66584600	Active TSS	Brain Hippocampus Middle	brain
30	chr12:66583000-66584600	Active TSS	Stomach Smooth Muscle	stomach
31	chr12:66583000-66584600	Active TSS	GM12878-XiMat	blood
32	chr12:66583200-66583800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:66583200-66584200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:66583200-66584400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:66583200-66584600	Active TSS	Brain Anterior Caudate	brain
36	chr12:66583200-66584800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr12:66583200-66584800	Active TSS	Right Ventricle	heart
38	chr12:66583400-66583800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr12:66583400-66583800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
40	chr12:66583400-66583800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:66583400-66584600	Active TSS	Psoas Muscle	Psoas
42	chr12:66583400-66585000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:66583400-66585200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:66583400-66585600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:66583400-66586000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr12:66583600-66583800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr12:66583600-66583800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr12:66583600-66583800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:66583600-66583800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:66583600-66584000	Active TSS	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links