Variant report

Variant	rs11068302
Chromosome Location	chr12:117483425-117483426
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	chr12:117397026..117399218-chr12:117481554..117483572,2	MCF-7	breast:
2	chr12:117478574..117480262-chr12:117481796..117483489,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10850753	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068280	0.81[ASN][1000 genomes]
rs11068282	0.82[ASN][1000 genomes]
rs11068286	0.82[ASN][1000 genomes]
rs11068303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068310	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12368874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2270792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2270793	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291912	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782189	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782190	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59578958	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7297446	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7978721	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:117476400-117484600	Weak transcription	Dnd41	blood
3	chr12:117477400-117484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
5	chr12:117480400-117485800	Weak transcription	Right Atrium	heart
6	chr12:117480600-117484000	Weak transcription	Pancreas	Pancrea
7	chr12:117480600-117485800	Weak transcription	Ovary	ovary
8	chr12:117480600-117486200	Weak transcription	Esophagus	oesophagus
9	chr12:117480800-117484200	Weak transcription	Gastric	stomach
10	chr12:117481200-117485600	Weak transcription	A549	lung
11	chr12:117481200-117485600	Weak transcription	Hela-S3	cervix
12	chr12:117481400-117486000	Weak transcription	Stomach Mucosa	stomach
13	chr12:117482000-117484600	Enhancers	Left Ventricle	heart
14	chr12:117482200-117484400	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:117482200-117485000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr12:117482400-117484000	Enhancers	Fetal Muscle Leg	muscle
17	chr12:117482400-117484400	Enhancers	Fetal Thymus	thymus
18	chr12:117482600-117483600	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:117482600-117483600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr12:117482600-117484000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:117482600-117484000	Flanking Active TSS	HepG2	liver
22	chr12:117482600-117484400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:117482600-117484600	Enhancers	Fetal Brain Male	brain
24	chr12:117482800-117483600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr12:117482800-117483600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:117482800-117483600	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr12:117482800-117483600	Flanking Active TSS	K562	blood
28	chr12:117482800-117483600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:117482800-117483800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:117482800-117483800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:117482800-117483800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:117482800-117483800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:117482800-117483800	Enhancers	Fetal Lung	lung
34	chr12:117482800-117483800	Bivalent Enhancer	Fetal Stomach	stomach
35	chr12:117482800-117483800	Enhancers	Thymus	Thymus
36	chr12:117482800-117484000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:117482800-117484000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:117482800-117484000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:117482800-117484000	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr12:117482800-117484000	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:117482800-117484200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:117482800-117484200	Enhancers	Fetal Intestine Large	intestine
43	chr12:117482800-117484400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:117482800-117484400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:117482800-117484400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:117482800-117484400	Enhancers	Fetal Intestine Small	intestine
47	chr12:117482800-117484600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:117483000-117483600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:117483000-117483600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:117483000-117483800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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