Variant report

Variant	rs12301340
Chromosome Location	chr12:117480694-117480695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117477087..117480724-chr12:117486826..117489814,3	MCF-7	breast:
2	chr12:117478356..117481644-chr12:117536617..117538572,3	K562	blood:
3	chr12:117474107..117476260-chr12:117479053..117480965,2	K562	blood:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11068304	1.00[AMR][1000 genomes]
rs11068305	1.00[AMR][1000 genomes]
rs12297748	1.00[AMR][1000 genomes]
rs12305518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313968	1.00[AMR][1000 genomes]
rs28454853	1.00[AMR][1000 genomes]
rs60601556	1.00[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:47 , 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	chr12:117477400-117481200	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:117477400-117481400	Enhancers	Stomach Mucosa	stomach
10	chr12:117477400-117482800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:117477400-117482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:117477400-117483000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:117477400-117484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:117477600-117482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:117477800-117482800	Weak transcription	Fetal Brain Female	brain
16	chr12:117478000-117482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:117478200-117482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:117478200-117482800	Weak transcription	Brain Anterior Caudate	brain
19	chr12:117478200-117482800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:117478400-117481600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:117478400-117482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:117478800-117482400	Weak transcription	Fetal Thymus	thymus
23	chr12:117479600-117480800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:117479600-117481200	Enhancers	Fetal Intestine Large	intestine
25	chr12:117479600-117481200	Enhancers	Fetal Intestine Small	intestine
26	chr12:117479600-117481600	Enhancers	Left Ventricle	heart
27	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
28	chr12:117479800-117480800	Enhancers	Gastric	stomach
29	chr12:117479800-117481200	Enhancers	Hela-S3	cervix
30	chr12:117479800-117481200	Flanking Active TSS	K562	blood
31	chr12:117479800-117481400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:117480000-117481200	Enhancers	A549	lung
33	chr12:117480200-117480800	Enhancers	HSMMtube	muscle
34	chr12:117480200-117482800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:117480400-117480800	Weak transcription	Right Ventricle	heart
36	chr12:117480400-117481000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:117480400-117482200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:117480400-117482400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:117480400-117482800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:117480400-117483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:117480400-117485800	Weak transcription	Right Atrium	heart
42	chr12:117480600-117481800	Weak transcription	Placenta	Placenta
43	chr12:117480600-117482600	Enhancers	HepG2	liver
44	chr12:117480600-117483000	Weak transcription	Spleen	Spleen
45	chr12:117480600-117484000	Weak transcription	Pancreas	Pancrea
46	chr12:117480600-117485800	Weak transcription	Ovary	ovary
47	chr12:117480600-117486200	Weak transcription	Esophagus	oesophagus

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