Variant report

Variant	rs12227740
Chromosome Location	chr12:117502108-117502109
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	chr12:117501550..117503831-chr12:117535985..117538295,2	MCF-7	breast:
2	chr12:117501229..117502760-chr12:117508705..117510581,2	K562	blood:

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10850749	1.00[ASN][1000 genomes]
rs11068233	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11068265	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068267	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068268	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068275	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11068278	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068279	0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068285	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068288	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230860	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12297748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313807	1.00[ASN][1000 genomes]
rs12313968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318749	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17582998	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17583110	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28454853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57066310	1.00[ASN][1000 genomes]
rs57212223	1.00[ASN][1000 genomes]
rs58547422	1.00[ASN][1000 genomes]
rs59143111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60601556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72487544	1.00[EUR][1000 genomes];0.96[ASN][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	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:117495400-117502600	Weak transcription	A549	lung
3	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:117498800-117514600	Strong transcription	HepG2	liver
5	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:117499200-117502200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:117499200-117507600	Weak transcription	Right Atrium	heart
8	chr12:117499200-117507800	Weak transcription	Lung	lung
9	chr12:117499600-117506800	Weak transcription	K562	blood
10	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:117500400-117502200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:117500400-117502400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:117500400-117502400	Enhancers	Placenta	Placenta
14	chr12:117500400-117502800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:117500600-117502200	Enhancers	Adipose Nuclei	Adipose
16	chr12:117500600-117503800	Weak transcription	Left Ventricle	heart
17	chr12:117500800-117502400	Enhancers	Fetal Heart	heart
18	chr12:117501000-117505000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:117501000-117507400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:117501200-117502200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:117501200-117503400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:117501200-117510000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:117501400-117502200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:117501400-117502400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:117501400-117502600	Enhancers	Primary B cells from cord blood	blood
26	chr12:117501400-117503000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:117501400-117503000	Enhancers	GM12878-XiMat	blood
28	chr12:117501400-117503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:117501600-117502200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:117501600-117502400	Enhancers	Primary T cells from cord blood	blood
32	chr12:117501600-117502400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:117501600-117502400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:117501600-117502400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:117501600-117502600	Weak transcription	Pancreas	Pancrea
36	chr12:117501600-117502800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:117501600-117503400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:117501600-117504000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:117501600-117504800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:117501600-117505400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:117501600-117505400	Enhancers	Fetal Thymus	thymus
42	chr12:117501600-117505400	Weak transcription	Right Ventricle	heart
43	chr12:117501600-117505400	Enhancers	Dnd41	blood
44	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
45	chr12:117501800-117503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:117501800-117503000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:117501800-117503200	Enhancers	Stomach Mucosa	stomach
48	chr12:117502000-117502200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:117502000-117504800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:117502000-117510600	Weak transcription	Thymus	Thymus

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