Variant report

Variant	rs12368874
Chromosome Location	chr12:117482301-117482302
allele	A/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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10850753	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11068245	1.00[CEU][hapmap]
rs11068247	1.00[CEU][hapmap]
rs11068258	1.00[CEU][hapmap]
rs11068259	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap]
rs11068272	1.00[YRI][hapmap]
rs11068280	1.00[CEU][hapmap]
rs11068282	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs11068286	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs11068302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11068303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11068310	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17583145	1.00[CEU][hapmap]
rs17616662	1.00[CEU][hapmap]
rs2270792	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2270793	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2291912	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3782189	1.00[CEU][hapmap];0.97[ASN][1000 genomes]
rs3782190	1.00[CEU][hapmap];0.98[ASN][1000 genomes]
rs4347476	1.00[CEU][hapmap]
rs59578958	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7136629	1.00[CEU][hapmap]
rs7297446	0.80[AFR][1000 genomes];0.93[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:117470800-117483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117471200-117482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:117471600-117482600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:117472000-117482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:117472600-117483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:117476400-117484600	Weak transcription	Dnd41	blood
8	chr12:117477400-117482800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:117477400-117482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:117477400-117483000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:117477400-117484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:117477600-117482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:117477800-117482800	Weak transcription	Fetal Brain Female	brain
14	chr12:117478000-117482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:117478200-117482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:117478200-117482800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:117478200-117482800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:117478400-117482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:117478800-117482400	Weak transcription	Fetal Thymus	thymus
20	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
21	chr12:117480200-117482800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:117480400-117482400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:117480400-117482800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:117480400-117483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:117480400-117485800	Weak transcription	Right Atrium	heart
26	chr12:117480600-117482600	Enhancers	HepG2	liver
27	chr12:117480600-117483000	Weak transcription	Spleen	Spleen
28	chr12:117480600-117484000	Weak transcription	Pancreas	Pancrea
29	chr12:117480600-117485800	Weak transcription	Ovary	ovary
30	chr12:117480600-117486200	Weak transcription	Esophagus	oesophagus
31	chr12:117480800-117482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:117480800-117483200	Weak transcription	HSMMtube	muscle
33	chr12:117480800-117484200	Weak transcription	Gastric	stomach
34	chr12:117481000-117482600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:117481000-117483000	Weak transcription	Right Ventricle	heart
36	chr12:117481200-117482800	Weak transcription	Fetal Intestine Small	intestine
37	chr12:117481200-117482800	Enhancers	K562	blood
38	chr12:117481200-117485600	Weak transcription	A549	lung
39	chr12:117481200-117485600	Weak transcription	Hela-S3	cervix
40	chr12:117481400-117482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:117481400-117486000	Weak transcription	Stomach Mucosa	stomach
42	chr12:117481600-117483400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:117481800-117482800	Weak transcription	Fetal Intestine Large	intestine
44	chr12:117482000-117483000	Bivalent Enhancer	Placenta	Placenta
45	chr12:117482000-117484600	Enhancers	Left Ventricle	heart
46	chr12:117482200-117483400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:117482200-117484400	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:117482200-117485000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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