Variant report

Variant	rs11061439
Chromosome Location	chr12:123517283-123517284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123507054..123512479-chr12:123514635..123518784,6	K562	blood:
2	chr12:123516372..123518127-chr12:123521257..123523072,2	K562	blood:
3	chr12:123516372..123518949-chr12:123560194..123562309,2	MCF-7	breast:
4	chr12:123494454..123496444-chr12:123516463..123519162,2	K562	blood:
5	chr12:123466130..123468338-chr12:123514919..123517859,3	K562	blood:
6	chr12:123516172..123518127-chr12:123521257..123523281,3	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000265526	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12371814	1.00[LWK][hapmap]
rs12423255	1.00[CHD][hapmap]
rs12580585	1.00[CHD][hapmap]
rs1260318	1.00[CHD][hapmap]
rs2049506	1.00[JPT][hapmap]
rs35456417	1.00[MEX][hapmap]
rs5021544	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS 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	55 gene(s)	inside rSNPs	diseases
4	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
2	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:123492000-123518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:123493600-123517600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:123494400-123517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:123494400-123518000	Weak transcription	Brain Substantia Nigra	brain
8	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:123496600-123517600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:123497200-123517600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:123497400-123528600	Weak transcription	Ovary	ovary
12	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:123502200-123519200	Weak transcription	HSMMtube	muscle
14	chr12:123504200-123519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:123504200-123528000	Weak transcription	HMEC	breast
16	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
17	chr12:123507400-123526000	Genic enhancers	Fetal Thymus	thymus
18	chr12:123507800-123517400	Weak transcription	K562	blood
19	chr12:123508200-123517400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:123509600-123517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:123509800-123518000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:123509800-123518000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:123509800-123518600	Weak transcription	NHDF-Ad	bronchial
24	chr12:123509800-123519000	Weak transcription	A549	lung
25	chr12:123509800-123519200	Weak transcription	HSMM	muscle
26	chr12:123509800-123519200	Weak transcription	Osteobl	bone
27	chr12:123509800-123525600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:123509800-123530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:123510000-123517800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:123510000-123518000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:123510000-123518200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:123510000-123518600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:123510200-123519600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:123510400-123517600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:123510800-123517400	Strong transcription	Lung	lung
36	chr12:123510800-123519200	Strong transcription	Liver	Liver
37	chr12:123511000-123519400	Strong transcription	Fetal Stomach	stomach
38	chr12:123511400-123517600	Weak transcription	Pancreas	Pancrea
39	chr12:123511400-123528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:123512000-123517600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:123512000-123517600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:123512800-123517800	Weak transcription	Gastric	stomach
43	chr12:123512800-123518800	Strong transcription	Brain Germinal Matrix	brain
44	chr12:123513000-123517600	Weak transcription	Spleen	Spleen
45	chr12:123513600-123517600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:123513600-123517800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:123513600-123518200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:123514200-123517800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:123514200-123519400	Strong transcription	Fetal Brain Female	brain
50	chr12:123514600-123517800	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links