Variant report

Variant	rs921288
Chromosome Location	chr12:122245344-122245345
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122244343..122246026-chr12:122447313..122449275,2	K562	blood:
2	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
3	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
4	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000256950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1795965	0.81[EUR][1000 genomes]
rs2019561	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs895952	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs895953	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs895957	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs921287	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122235200-122245400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122241600-122248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:122242800-122245800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:122243200-122245800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:122243800-122245400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr12:122243800-122245400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr12:122243800-122245400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:122243800-122245400	Transcr. at gene 5' and 3'	Right Ventricle	heart
9	chr12:122243800-122245400	Transcr. at gene 5' and 3'	HSMM	muscle
10	chr12:122243800-122245400	Transcr. at gene 5' and 3'	NHLF	lung
11	chr12:122243800-122245800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
12	chr12:122243800-122245800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr12:122243800-122245800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
14	chr12:122243800-122245800	Flanking Active TSS	GM12878-XiMat	blood
15	chr12:122243800-122246800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:122243800-122251600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:122244000-122246200	Genic enhancers	Spleen	Spleen
18	chr12:122244200-122245400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:122244400-122245400	Flanking Active TSS	Fetal Brain Female	brain
20	chr12:122244400-122249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122244600-122245800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:122244600-122245800	Transcr. at gene 5' and 3'	Thymus	Thymus
23	chr12:122244600-122246000	Genic enhancers	Lung	lung
24	chr12:122244600-122246400	Genic enhancers	Placenta	Placenta
25	chr12:122244600-122246600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:122244600-122246600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122244800-122245400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:122244800-122245400	Genic enhancers	Fetal Lung	lung
29	chr12:122244800-122245400	Genic enhancers	Left Ventricle	heart
30	chr12:122244800-122245600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:122244800-122245800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:122244800-122245800	Genic enhancers	Fetal Stomach	stomach
33	chr12:122244800-122246000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
34	chr12:122244800-122246400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:122244800-122249200	Weak transcription	Psoas Muscle	Psoas
36	chr12:122245000-122245400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:122245000-122245400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:122245000-122245400	Enhancers	Adipose Nuclei	Adipose
39	chr12:122245000-122245400	Enhancers	Fetal Brain Male	brain
40	chr12:122245000-122245600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:122245000-122245600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:122245000-122245600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:122245000-122245600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:122245000-122245600	Enhancers	Brain Anterior Caudate	brain
45	chr12:122245000-122245600	Enhancers	Fetal Heart	heart
46	chr12:122245000-122245600	Weak transcription	Gastric	stomach
47	chr12:122245000-122245600	Enhancers	HepG2	liver
48	chr12:122245000-122245600	Weak transcription	HSMMtube	muscle
49	chr12:122245000-122245600	Genic enhancers	NHEK	skin
50	chr12:122245000-122245800	Weak transcription	Brain Substantia Nigra	brain

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