Variant report

Variant	rs7977117
Chromosome Location	chr12:117100213-117100214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117099623..117100620-chr2:42587817..42588707,2	NB4	blood:

Variant related genes	Relation type
ENSG00000115944	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1009981	0.97[ASN][1000 genomes]
rs10774881	0.80[EUR][1000 genomes]
rs10850696	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422345	0.97[ASN][1000 genomes]
rs12424640	0.91[ASN][1000 genomes]
rs2893687	0.97[ASN][1000 genomes]
rs4505161	1.00[ASN][1000 genomes]
rs7298460	0.84[EUR][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:75 , 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	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:117096800-117100400	Weak transcription	HSMM	muscle
7	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:117097000-117100400	Weak transcription	Esophagus	oesophagus
9	chr12:117097000-117100400	Enhancers	Pancreas	Pancrea
10	chr12:117098000-117100400	Weak transcription	Thymus	Thymus
11	chr12:117098000-117101200	Enhancers	Lung	lung
12	chr12:117098200-117100400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:117098400-117100400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:117098400-117100600	Weak transcription	A549	lung
15	chr12:117098400-117101400	Weak transcription	Hela-S3	cervix
16	chr12:117099200-117101000	Enhancers	Fetal Thymus	thymus
17	chr12:117099400-117100800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:117099400-117101000	Enhancers	Fetal Muscle Leg	muscle
19	chr12:117099400-117101200	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:117099400-117101800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:117099600-117100400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:117099600-117100800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:117099600-117101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:117099600-117102200	Enhancers	Liver	Liver
25	chr12:117099800-117100400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:117099800-117100600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:117099800-117100800	Enhancers	Colonic Mucosa	Colon
28	chr12:117099800-117100800	Enhancers	Ovary	ovary
29	chr12:117099800-117101000	Enhancers	Fetal Lung	lung
30	chr12:117099800-117101200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:117099800-117101200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:117099800-117101200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:117099800-117101800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:117100000-117100400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:117100000-117100400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr12:117100000-117100800	Enhancers	Brain Substantia Nigra	brain
37	chr12:117100000-117101000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:117100000-117101000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:117100000-117101000	Enhancers	Fetal Brain Male	brain
40	chr12:117100000-117101000	Enhancers	Fetal Brain Female	brain
41	chr12:117100000-117101000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr12:117100000-117101000	Enhancers	Fetal Stomach	stomach
43	chr12:117100000-117101200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:117100000-117101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:117100200-117100400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:117100200-117100400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:117100200-117100400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:117100200-117100400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:117100200-117100400	Enhancers	Brain Germinal Matrix	brain
50	chr12:117100200-117100400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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