Variant report

Variant	rs73302112
Chromosome Location	chr12:49276043-49276044
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49275956..49279461-chr12:49283300..49286531,4	MCF-7	breast:
2	chr12:49253798..49263932-chr12:49272568..49285670,39	MCF-7	breast:
3	chr12:49253541..49263542-chr12:49271204..49284916,35	MCF-7	breast:
4	chr12:49275330..49277454-chr12:49281174..49283027,2	MCF-7	breast:
5	chr12:49275988..49277601-chr12:49279454..49281035,2	MCF-7	breast:
6	chr12:49270319..49273192-chr12:49274654..49277123,3	MCF-7	breast:
7	chr12:49244448..49248825-chr12:49273797..49278851,6	MCF-7	breast:
8	chr12:49275988..49277581-chr12:49412229..49413782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181929	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000199394	Chromatin interaction
ENSG00000172602	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7959705	1.00[AMR][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	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49278200	Enhancers	Liver	Liver
2	chr12:49273800-49276800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:49274000-49278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:49275000-49278600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:49275200-49276200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr12:49275200-49278200	Enhancers	Fetal Intestine Large	intestine
7	chr12:49275200-49278200	Enhancers	Fetal Intestine Small	intestine
8	chr12:49275400-49277800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:49275400-49278200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:49275600-49276200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:49275600-49276200	Enhancers	Fetal Kidney	kidney
12	chr12:49275600-49276200	Enhancers	Stomach Mucosa	stomach
13	chr12:49275600-49276200	Bivalent Enhancer	HepG2	liver
14	chr12:49275600-49276400	Bivalent Enhancer	NH-A	brain
15	chr12:49275600-49276600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:49275600-49276600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:49275600-49276600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:49275600-49276600	Flanking Bivalent TSS/Enh	Osteobl	bone
19	chr12:49275600-49277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:49275600-49277200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:49275600-49277200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49275600-49277400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:49275600-49277600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr12:49275600-49277800	Enhancers	Placenta	Placenta
25	chr12:49275600-49278000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:49275600-49278000	Enhancers	Fetal Lung	lung
27	chr12:49275600-49278000	Enhancers	Lung	lung
28	chr12:49275600-49278000	Enhancers	Pancreas	Pancrea
29	chr12:49275600-49278200	Flanking Active TSS	A549	lung
30	chr12:49275800-49276200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:49275800-49276200	Active TSS	Brain Anterior Caudate	brain
32	chr12:49275800-49276200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:49275800-49276200	Active TSS	Right Atrium	heart
34	chr12:49275800-49276200	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr12:49275800-49276400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:49275800-49276400	Flanking Bivalent TSS/Enh	NHLF	lung
37	chr12:49275800-49276600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:49275800-49276600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:49275800-49276600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr12:49275800-49276600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:49275800-49276600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:49275800-49277000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:49275800-49277000	Flanking Active TSS	HUVEC	blood vessel
44	chr12:49275800-49277200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:49275800-49277200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:49275800-49278000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:49275800-49278000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:49275800-49278000	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:49275800-49278200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:49275800-49278200	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links