Variant report

Variant	rs73331052
Chromosome Location	chr12:66759456-66759457
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66755875..66758507-chr12:66758802..66761903,3	K562	blood:
2	chr12:66751054..66753870-chr12:66758172..66760159,2	K562	blood:
3	chr12:66748593..66750341-chr12:66758365..66760104,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17102438	0.85[ASN][1000 genomes]
rs4344534	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
2	chr12:66735800-66759800	Weak transcription	Thymus	Thymus
3	chr12:66736000-66766400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:66736600-66759600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:66738000-66792800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:66738200-66770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:66738800-66770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:66739400-66765800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:66739400-66766200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:66743000-66787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:66743200-66763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:66743200-66763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:66743400-66761600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:66743600-66764000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:66744600-66767400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:66745800-66759600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:66746800-66772200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:66747000-66763800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:66747400-66762000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:66747400-66772000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:66748200-66761400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:66748200-66766600	Weak transcription	Fetal Brain Male	brain
23	chr12:66749000-66763400	Weak transcription	Fetal Brain Female	brain
24	chr12:66757600-66759800	Enhancers	Placenta	Placenta
25	chr12:66759000-66761200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:66759200-66759600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:66759200-66759800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:66759400-66760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:66759400-66760000	Strong transcription	Primary T cells from cord blood	blood
30	chr12:66759400-66760000	Enhancers	NHDF-Ad	bronchial
31	chr12:66759400-66760200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:66759400-66760200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:66759400-66760400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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