Variant report

Variant	rs2270789
Chromosome Location	chr12:123519014-123519015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123494454..123496444-chr12:123516463..123519162,2	K562	blood:

Variant related genes	Relation type
ENSG00000265526	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11539605	1.00[AFR][1000 genomes]
rs12820906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1463877	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1617156	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1727294	0.91[ASN][1000 genomes]
rs1790120	0.86[ASN][1000 genomes]
rs2292133	1.00[EUR][1000 genomes]
rs2510885	0.91[ASN][1000 genomes]
rs4148856	0.83[ASN][1000 genomes]
rs520088	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs585522	0.94[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs641760	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs655293	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs71444568	0.91[ASN][1000 genomes]
rs7299943	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7975763	0.83[ASN][1000 genomes]
rs883263	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs883563	0.81[ASN][1000 genomes]
rs937564	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs940904	0.83[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][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:101 , 50 per page) page: 1 2 3

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	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:123497400-123528600	Weak transcription	Ovary	ovary
6	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:123502200-123519200	Weak transcription	HSMMtube	muscle
8	chr12:123504200-123528000	Weak transcription	HMEC	breast
9	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
10	chr12:123507400-123526000	Genic enhancers	Fetal Thymus	thymus
11	chr12:123509800-123519200	Weak transcription	HSMM	muscle
12	chr12:123509800-123519200	Weak transcription	Osteobl	bone
13	chr12:123509800-123525600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:123509800-123530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:123510200-123519600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:123510800-123519200	Strong transcription	Liver	Liver
17	chr12:123511000-123519400	Strong transcription	Fetal Stomach	stomach
18	chr12:123511400-123528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:123514200-123519400	Strong transcription	Fetal Brain Female	brain
20	chr12:123515400-123519200	Strong transcription	Fetal Intestine Small	intestine
21	chr12:123515600-123519200	Strong transcription	NHLF	lung
22	chr12:123515600-123521600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:123516000-123519400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr12:123516400-123519200	Strong transcription	Right Ventricle	heart
25	chr12:123516400-123527400	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:123516600-123519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:123516600-123527800	Weak transcription	Stomach Mucosa	stomach
28	chr12:123516800-123519400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:123517200-123521800	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:123517400-123519200	Genic enhancers	Lung	lung
31	chr12:123517400-123520600	Enhancers	K562	blood
32	chr12:123517600-123519200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:123517600-123519200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:123517600-123519800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:123517800-123519400	Strong transcription	Brain Angular Gyrus	brain
36	chr12:123517800-123519800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:123517800-123526800	Weak transcription	Fetal Heart	heart
38	chr12:123517800-123527200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:123518000-123519200	Enhancers	Dnd41	blood
40	chr12:123518000-123519400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr12:123518000-123519600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:123518000-123519800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:123518000-123526400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:123518200-123519200	Enhancers	Primary B cells from cord blood	blood
45	chr12:123518200-123519200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:123518200-123519800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:123518200-123527600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:123518200-123528000	Weak transcription	Brain Anterior Caudate	brain
49	chr12:123518200-123535600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:123518400-123519200	Flanking Active TSS	Primary T cells from cord blood	blood

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