Variant report

Variant	rs73411039
Chromosome Location	chr12:123492674-123492675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123491404..123492960-chr12:123494344..123496254,2	K562	blood:
2	chr12:123491668..123493633-chr12:123498579..123500391,2	K562	blood:
3	chr12:123490178..123492960-chr12:123494344..123496225,2	K562	blood:
4	chr12:123488771..123490816-chr12:123491937..123493627,3	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000265526	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs57143069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60442043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817665	0.85[AFR][1000 genomes]
rs61685353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417352	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
3	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
4	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
5	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
9	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
10	chr12:123472600-123492800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:123472800-123494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:123473400-123501000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:123473800-123500800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123483200-123496800	Weak transcription	Psoas Muscle	Psoas
16	chr12:123484400-123492800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:123485200-123496200	Strong transcription	Fetal Thymus	thymus
18	chr12:123485600-123495600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:123485800-123493200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:123487400-123497600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:123487600-123498800	Strong transcription	Fetal Stomach	stomach
22	chr12:123488000-123497400	Strong transcription	Ovary	ovary
23	chr12:123488000-123498400	Strong transcription	Right Ventricle	heart
24	chr12:123488000-123498800	Strong transcription	Fetal Intestine Small	intestine
25	chr12:123488200-123494200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123488400-123498600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:123488600-123498600	Strong transcription	Liver	Liver
28	chr12:123488800-123498400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:123489200-123512400	Weak transcription	Aorta	Aorta
30	chr12:123489800-123492800	Weak transcription	Brain Germinal Matrix	brain
31	chr12:123490000-123493400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:123490000-123494000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:123490000-123495600	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:123490000-123515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:123490200-123492800	Weak transcription	Spleen	Spleen
36	chr12:123490200-123493800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:123490200-123494000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:123490200-123494000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:123490200-123498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:123490200-123503600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:123490200-123511000	Weak transcription	Pancreas	Pancrea
42	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:123490400-123493200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:123490400-123493600	Weak transcription	Fetal Intestine Large	intestine
45	chr12:123490400-123503200	Weak transcription	NHEK	skin
46	chr12:123490400-123503800	Weak transcription	A549	lung
47	chr12:123491200-123494400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:123491200-123498400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:123491200-123498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:123491200-123503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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