Variant report

Variant	rs73291624
Chromosome Location	chr12:12662494-12662495
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:12661255-12667747	SK-N-SH	brain:	n/a	chr12:12661260-12661274 chr12:12662415-12662429 chr12:12667385-12667399 chr12:12661255-12661269 chr12:12661301-12661311

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12658416..12661022-chr12:12661661..12664149,3	K562	blood:

Variant related genes	Relation type
DUSP16	TF binding region
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58199331	1.00[AFR][1000 genomes]
rs7303633	1.00[AFR][1000 genomes]
rs73289691	1.00[AFR][1000 genomes]
rs73289695	1.00[AFR][1000 genomes]
rs73289701	1.00[AFR][1000 genomes]
rs73291606	1.00[AFR][1000 genomes]
rs73291612	1.00[AFR][1000 genomes]
rs73291699	1.00[AFR][1000 genomes]
rs73291700	0.90[AFR][1000 genomes]
rs73293605	1.00[AFR][1000 genomes]
rs73293611	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12663600	Weak transcription	Lung	lung
5	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:12652800-12665000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:12654400-12667200	Weak transcription	Primary T cells from cord blood	blood
9	chr12:12656000-12666400	Weak transcription	Spleen	Spleen
10	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:12658200-12662800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:12658400-12662600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:12658400-12662800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:12658800-12662600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:12659000-12662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:12659000-12667000	Weak transcription	Fetal Thymus	thymus
17	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:12659400-12663800	Enhancers	Brain Angular Gyrus	brain
19	chr12:12659400-12665200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:12659600-12662800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:12659600-12663200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:12659600-12663800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:12659600-12664000	Enhancers	NHLF	lung
24	chr12:12659600-12664600	Enhancers	Osteobl	bone
25	chr12:12659600-12665800	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:12659800-12662800	Weak transcription	A549	lung
27	chr12:12659800-12663000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:12659800-12664600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:12659800-12664600	Weak transcription	Thymus	Thymus
30	chr12:12659800-12665200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:12659800-12665600	Weak transcription	Fetal Intestine Small	intestine
32	chr12:12659800-12667800	Enhancers	Brain Hippocampus Middle	brain
33	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:12660000-12664400	Enhancers	NHDF-Ad	bronchial
39	chr12:12660000-12664600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:12660000-12665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:12660000-12665200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:12660000-12668600	Enhancers	Brain Substantia Nigra	brain
43	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
45	chr12:12660200-12670000	Weak transcription	Fetal Lung	lung
46	chr12:12660400-12662600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:12660400-12662800	Weak transcription	NH-A	brain
48	chr12:12660400-12663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:12660400-12663000	Weak transcription	Fetal Intestine Large	intestine
50	chr12:12660400-12663000	Weak transcription	HSMMtube	muscle

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