Variant report

Variant	rs7955979
Chromosome Location	chr12:117514906-117514907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117512300..117515026-chr12:117517081..117519367,2	MCF-7	breast:
2	chr12:117513474..117515801-chr12:117535045..117537762,2	K562	blood:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11068326	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12371881	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56095597	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7134364	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7316090	1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960239	1.00[JPT][hapmap]

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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
5	chr12:117508000-117515000	Weak transcription	K562	blood
6	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:117508600-117520200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:117509800-117521000	Weak transcription	A549	lung
9	chr12:117510800-117518600	Weak transcription	Thymus	Thymus
10	chr12:117511600-117515000	Weak transcription	Gastric	stomach
11	chr12:117513200-117515200	Enhancers	Left Ventricle	heart
12	chr12:117514000-117515200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:117514000-117515400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:117514000-117515400	Enhancers	Fetal Heart	heart
15	chr12:117514000-117515400	Genic enhancers	Pancreas	Pancrea
16	chr12:117514200-117515000	Enhancers	Lung	lung
17	chr12:117514200-117515200	Enhancers	Right Atrium	heart
18	chr12:117514200-117515400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:117514200-117515400	Enhancers	Placenta	Placenta
20	chr12:117514200-117515600	Enhancers	Right Ventricle	heart
21	chr12:117514400-117515200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:117514400-117515200	Enhancers	Fetal Lung	lung
23	chr12:117514400-117515200	Enhancers	Fetal Thymus	thymus
24	chr12:117514400-117515400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:117514400-117515400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:117514400-117515600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:117514600-117515000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:117514600-117515000	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:117514600-117515000	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:117514600-117515000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr12:117514600-117515000	Enhancers	Hela-S3	cervix
32	chr12:117514600-117515200	Enhancers	Primary T cells from cord blood	blood
33	chr12:117514600-117515200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:117514600-117515200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:117514600-117515200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:117514600-117515200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:117514600-117515200	Enhancers	Small Intestine	intestine
38	chr12:117514600-117515400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:117514600-117515400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr12:117514600-117515400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:117514600-117515400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:117514600-117515600	Genic enhancers	HepG2	liver
43	chr12:117514600-117515800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:117514800-117515000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:117514800-117515000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:117514800-117515000	Enhancers	Ovary	ovary
47	chr12:117514800-117515000	Flanking Active TSS	Dnd41	blood
48	chr12:117514800-117515200	Enhancers	Brain Anterior Caudate	brain
49	chr12:117514800-117515200	Enhancers	Fetal Kidney	kidney
50	chr12:117514800-117515200	Weak transcription	Fetal Stomach	stomach

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