Variant report

Variant	rs7302680
Chromosome Location	chr12:39539695-39539696
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs2218759	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899010	chr12:39512724-39594506	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv899011	chr12:39517706-39594506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv899012	chr12:39531466-39594506	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39538400-39539800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:39538400-39539800	Active TSS	Brain Hippocampus Middle	brain
3	chr12:39538400-39539800	Active TSS	Brain Substantia Nigra	brain
4	chr12:39538400-39539800	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:39538600-39539800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:39538600-39539800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
7	chr12:39538800-39539800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:39538800-39539800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
9	chr12:39538800-39539800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:39538800-39539800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr12:39538800-39539800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr12:39538800-39539800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:39538800-39540000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:39539000-39539800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:39539000-39539800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:39539000-39539800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr12:39539000-39539800	Bivalent/Poised TSS	Osteobl	bone
18	chr12:39539200-39539800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:39539200-39539800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:39539200-39539800	Bivalent Enhancer	Fetal Brain Male	brain
21	chr12:39539200-39539800	Active TSS	Right Ventricle	heart
22	chr12:39539400-39539800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
23	chr12:39539400-39539800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr12:39539400-39539800	Active TSS	Colonic Mucosa	Colon
25	chr12:39539400-39539800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
26	chr12:39539400-39539800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
27	chr12:39539400-39540000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr12:39539600-39539800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
29	chr12:39539600-39539800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:39539600-39539800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:39539600-39539800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr12:39539600-39539800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:39539600-39539800	Enhancers	Liver	Liver
34	chr12:39539600-39539800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr12:39539600-39539800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
36	chr12:39539600-39539800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:39539600-39539800	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr12:39539600-39539800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
39	chr12:39539600-39539800	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr12:39539600-39539800	Active TSS	Stomach Mucosa	stomach
41	chr12:39539600-39539800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr12:39539600-39539800	Flanking Active TSS	A549	lung

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