Variant report

Variant	rs73358069
Chromosome Location	chr12:75903967-75903968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75895269..75897744-chr12:75903455..75905180,2	MCF-7	breast:
2	chr12:75897120..75901453-chr12:75903276..75905265,4	MCF-7	breast:
3	chr12:75722764..75725346-chr12:75903212..75905334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180881	Chromatin interaction
ENSG00000111615	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57085872	0.95[AFR][1000 genomes]
rs61545347	0.95[AFR][1000 genomes]
rs73356174	0.84[AFR][1000 genomes]
rs73356189	0.95[AFR][1000 genomes]
rs73358066	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75883800-75904800	Weak transcription	Esophagus	oesophagus
2	chr12:75888800-75904200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:75892800-75904400	Weak transcription	Gastric	stomach
4	chr12:75895400-75904000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:75895400-75904200	Weak transcription	Right Ventricle	heart
6	chr12:75895400-75904400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:75895400-75904600	Weak transcription	Lung	lung
8	chr12:75895600-75904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:75895800-75904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:75896200-75904000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:75896400-75904000	Weak transcription	Fetal Heart	heart
12	chr12:75897000-75904000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:75897000-75904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:75897400-75904000	Weak transcription	Aorta	Aorta
15	chr12:75897600-75904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:75897600-75904800	Weak transcription	Spleen	Spleen
17	chr12:75897800-75904000	Weak transcription	Colonic Mucosa	Colon
18	chr12:75897800-75904600	Weak transcription	Left Ventricle	heart
19	chr12:75897800-75904800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:75900000-75904400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:75900400-75904600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:75900800-75904400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:75900800-75904400	Weak transcription	Placenta	Placenta
24	chr12:75901800-75904200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:75902200-75904000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:75902400-75904000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:75902600-75904400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:75903000-75904000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:75903000-75904000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:75903000-75904200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:75903000-75904200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:75903000-75904600	Enhancers	Small Intestine	intestine
33	chr12:75903200-75904000	Enhancers	Primary T cells from cord blood	blood
34	chr12:75903200-75904000	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:75903200-75904000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:75903200-75904200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:75903200-75904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:75903200-75904600	Flanking Active TSS	Dnd41	blood
39	chr12:75903200-75905000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:75903200-75906000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:75903400-75904000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:75903400-75904000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:75903400-75904000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:75903400-75904000	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:75903400-75904000	Enhancers	Fetal Brain Female	brain
46	chr12:75903400-75904000	Enhancers	Fetal Intestine Large	intestine
47	chr12:75903400-75904000	Enhancers	Psoas Muscle	Psoas
48	chr12:75903400-75904000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:75903400-75904000	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:75903400-75904200	Enhancers	Primary B cells from cord blood	blood

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