Variant report

Variant	rs73406940
Chromosome Location	chr12:123354269-123354270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123353433..123355596-chr12:123434511..123436337,2	MCF-7	breast:
2	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:
3	chr12:123353502..123357222-chr12:123371821..123375830,5	MCF-7	breast:
4	chr12:123351397..123354786-chr12:123371825..123377880,6	MCF-7	breast:
5	chr12:123352649..123355480-chr12:123433197..123435303,2	K562	blood:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000150967	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs56718360	0.91[AFR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406959	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73406977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
3	chr12:123337400-123356200	Weak transcription	Fetal Kidney	kidney
4	chr12:123339600-123355000	Strong transcription	Fetal Brain Female	brain
5	chr12:123344400-123355000	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr12:123344800-123355200	Weak transcription	Hela-S3	cervix
7	chr12:123345200-123355400	Weak transcription	Fetal Brain Male	brain
8	chr12:123345400-123354400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:123345600-123355400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:123347200-123354800	Strong transcription	Fetal Stomach	stomach
11	chr12:123347400-123355000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:123347600-123355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:123347800-123355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:123348200-123355000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:123348200-123355600	Strong transcription	NHLF	lung
16	chr12:123348400-123354800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:123348800-123354800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr12:123348800-123355400	Strong transcription	NH-A	brain
19	chr12:123348800-123355600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:123348800-123355800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:123349000-123354400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:123349000-123355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:123349000-123355200	Genic enhancers	Right Ventricle	heart
24	chr12:123349200-123355200	Genic enhancers	Pancreas	Pancrea
25	chr12:123349200-123355800	Strong transcription	Dnd41	blood
26	chr12:123349600-123355400	Genic enhancers	Adipose Nuclei	Adipose
27	chr12:123350200-123355600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:123350400-123355200	Genic enhancers	Spleen	Spleen
29	chr12:123350600-123354800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:123350600-123355200	Strong transcription	Primary T cells from cord blood	blood
31	chr12:123350800-123354600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:123350800-123354600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:123350800-123354800	Strong transcription	Fetal Intestine Small	intestine
34	chr12:123350800-123355000	Strong transcription	Fetal Thymus	thymus
35	chr12:123350800-123355200	Strong transcription	Aorta	Aorta
36	chr12:123351000-123354800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:123351000-123354800	Strong transcription	Fetal Lung	lung
38	chr12:123351000-123355000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:123351000-123355000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:123351000-123355000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr12:123351000-123355400	Genic enhancers	Left Ventricle	heart
42	chr12:123351200-123355400	Genic enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:123351200-123355600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:123351400-123355600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:123351600-123355000	Strong transcription	Fetal Intestine Large	intestine
46	chr12:123352000-123354800	Weak transcription	Small Intestine	intestine
47	chr12:123352000-123355000	Genic enhancers	Stomach Mucosa	stomach
48	chr12:123352000-123355400	Genic enhancers	Rectal Mucosa Donor 29	rectum
49	chr12:123352200-123355200	Genic enhancers	Brain Hippocampus Middle	brain
50	chr12:123352200-123355200	Genic enhancers	Brain Substantia Nigra	brain

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