Variant report

Variant	rs7962186
Chromosome Location	chr12:117097070-117097071
allele	A/G
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	POLR2A	chr12:117096364-117097116	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:117088937..117090937-chr12:117094983..117097116,2	K562	blood:
2	chr12:117095945..117098090-chr12:117099384..117101804,2	K562	blood:
3	chr12:117094883..117097893-chr12:117100651..117103499,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257883	TF binding region
ENSG00000257883	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58382373	0.82[AMR][1000 genomes]
rs60656302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299368	1.00[AMR][1000 genomes]
rs73399267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399270	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962169	0.84[AMR][1000 genomes]
rs7980530	0.84[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	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117094200-117098000	Weak transcription	Lung	lung
3	chr12:117095600-117098600	Enhancers	Fetal Thymus	thymus
4	chr12:117095800-117098200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:117095800-117098200	Enhancers	Placenta	Placenta
6	chr12:117095800-117098400	Enhancers	Fetal Brain Male	brain
7	chr12:117096200-117097800	Enhancers	Aorta	Aorta
8	chr12:117096200-117098200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:117096400-117100200	Weak transcription	Left Ventricle	heart
10	chr12:117096400-117100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:117096600-117097200	Enhancers	Fetal Muscle Trunk	muscle
12	chr12:117096600-117097400	Weak transcription	Gastric	stomach
13	chr12:117096600-117098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:117096600-117098000	Enhancers	Fetal Muscle Leg	muscle
15	chr12:117096600-117099800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:117096600-117100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:117096600-117100200	Weak transcription	Brain Germinal Matrix	brain
18	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:117096800-117097200	Weak transcription	Right Atrium	heart
20	chr12:117096800-117097200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:117096800-117097200	Enhancers	NH-A	brain
22	chr12:117096800-117097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:117096800-117097800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:117096800-117097800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:117096800-117098000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:117096800-117098000	Enhancers	Stomach Mucosa	stomach
27	chr12:117096800-117098000	Enhancers	Thymus	Thymus
28	chr12:117096800-117098200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:117096800-117098200	Enhancers	Ovary	ovary
30	chr12:117096800-117098200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:117096800-117098400	Enhancers	A549	lung
32	chr12:117096800-117098400	Enhancers	HepG2	liver
33	chr12:117096800-117099200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:117096800-117099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:117096800-117099800	Weak transcription	Fetal Intestine Large	intestine
36	chr12:117096800-117099800	Weak transcription	Fetal Intestine Small	intestine
37	chr12:117096800-117100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:117096800-117100000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:117096800-117100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:117096800-117100200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:117096800-117100200	Weak transcription	Right Ventricle	heart
42	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
45	chr12:117096800-117100400	Weak transcription	HSMM	muscle
46	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:117097000-117097400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:117097000-117097400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:117097000-117097400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:117097000-117097400	Weak transcription	Duodenum Mucosa	Duodenum

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