Variant report

Variant	rs28477684
Chromosome Location	chr12:122152224-122152225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
2	chr12:122151601..122153571-chr12:122191520..122194326,2	MCF-7	breast:
3	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
4	chr12:122151917..122156679-chr12:122158990..122161990,5	MCF-7	breast:
5	chr12:122125213..122127538-chr12:122150948..122152845,2	MCF-7	breast:
6	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
7	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60282131	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411707	1.00[AMR][1000 genomes]
rs73411715	1.00[AMR][1000 genomes]
rs73411716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411766	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:122150800-122152400	Flanking Active TSS	NH-A	brain
2	chr12:122151400-122152400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr12:122151400-122152400	Flanking Active TSS	Hela-S3	cervix
4	chr12:122151600-122152400	Enhancers	Fetal Brain Male	brain
5	chr12:122151600-122160800	Weak transcription	Aorta	Aorta
6	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:122151800-122152400	Enhancers	Placenta	Placenta
8	chr12:122151800-122152400	Enhancers	Lung	lung
9	chr12:122151800-122153000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:122151800-122153200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:122151800-122154800	Weak transcription	Fetal Kidney	kidney
12	chr12:122151800-122155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:122151800-122155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:122151800-122158000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122151800-122159200	Weak transcription	Esophagus	oesophagus
16	chr12:122151800-122160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:122152000-122152400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:122152000-122152400	Enhancers	Fetal Stomach	stomach
19	chr12:122152000-122152800	Enhancers	Fetal Brain Female	brain
20	chr12:122152000-122152800	Enhancers	Pancreas	Pancrea
21	chr12:122152000-122153000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:122152000-122153200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:122152000-122153400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:122152000-122153400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:122152000-122153400	Weak transcription	Thymus	Thymus
26	chr12:122152000-122153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:122152000-122154600	Weak transcription	HUVEC	blood vessel
28	chr12:122152000-122154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:122152000-122154800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:122152000-122156600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:122152000-122161200	Weak transcription	Gastric	stomach
32	chr12:122152000-122162600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:122152000-122164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:122152000-122164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:122152200-122152400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:122152200-122152400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:122152200-122152400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:122152200-122152400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:122152200-122152400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:122152200-122152400	Enhancers	Adipose Nuclei	Adipose
46	chr12:122152200-122152400	Enhancers	Stomach Smooth Muscle	stomach
47	chr12:122152200-122152600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:122152200-122152800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:122152200-122152800	Enhancers	Fetal Muscle Leg	muscle
50	chr12:122152200-122152800	Enhancers	Skeletal Muscle Female	skeletal muscle

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