Variant report

Variant	rs73230051
Chromosome Location	chr12:123561638-123561639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123560295..123563017-chr12:123563846..123566062,3	K562	blood:
2	chr12:123561243..123563312-chr12:123633451..123635573,2	MCF-7	breast:
3	chr12:123559703..123562585-chr12:123566918..123569407,2	K562	blood:
4	chr12:123463143..123466030-chr12:123559790..123563075,3	MCF-7	breast:
5	chr12:123558968..123563276-chr12:123716606..123719909,6	MCF-7	breast:
6	chr12:123560295..123563384-chr12:123563700..123566062,4	K562	blood:

Variant related genes	Relation type
ENSG00000182196	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000251497	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12423255	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34580115	0.85[AMR][1000 genomes];0.85[EUR][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	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	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
3	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
4	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
5	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
6	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
7	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
8	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr12:123542800-123563800	Enhancers	Left Ventricle	heart
2	chr12:123546400-123562400	Enhancers	Liver	Liver
3	chr12:123550000-123562400	Enhancers	Fetal Heart	heart
4	chr12:123551200-123561800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:123553800-123563800	Enhancers	Right Ventricle	heart
6	chr12:123554000-123563000	Enhancers	Right Atrium	heart
7	chr12:123554000-123563800	Enhancers	Brain Hippocampus Middle	brain
8	chr12:123556400-123562600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:123557400-123565600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:123558400-123563800	Enhancers	Lung	lung
11	chr12:123558600-123562400	Enhancers	Adipose Nuclei	Adipose
12	chr12:123558600-123562800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:123558800-123563200	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:123559000-123561800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr12:123559000-123562000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:123559200-123561800	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:123559200-123562000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:123559200-123562200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:123559400-123561800	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:123559400-123562000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:123559400-123562200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:123559400-123562200	Enhancers	NHDF-Ad	bronchial
23	chr12:123559600-123561800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:123559600-123561800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:123559600-123562200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:123559600-123562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:123559600-123562400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:123559600-123563000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:123559600-123563200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:123559800-123562000	Enhancers	Fetal Brain Male	brain
31	chr12:123559800-123562200	Enhancers	Psoas Muscle	Psoas
32	chr12:123560000-123562200	Enhancers	K562	blood
33	chr12:123560200-123561800	Enhancers	GM12878-XiMat	blood
34	chr12:123560200-123562200	Enhancers	A549	lung
35	chr12:123560200-123563800	Enhancers	Spleen	Spleen
36	chr12:123560200-123570400	Weak transcription	Aorta	Aorta
37	chr12:123560400-123561800	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:123560400-123561800	Enhancers	Fetal Stomach	stomach
39	chr12:123560400-123562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:123560400-123562000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:123560600-123561800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:123560600-123561800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr12:123560600-123562200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:123560600-123562200	Weak transcription	Brain Germinal Matrix	brain
45	chr12:123560600-123562600	Enhancers	Placenta	Placenta
46	chr12:123560600-123574200	Weak transcription	Gastric	stomach
47	chr12:123560800-123561800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:123560800-123561800	Enhancers	Primary B cells from cord blood	blood
49	chr12:123560800-123561800	Enhancers	HUVEC	blood vessel
50	chr12:123560800-123562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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