Variant report

Variant	rs12228058
Chromosome Location	chr12:117499942-117499943
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	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:

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]
rs12227740	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	0.92[YRI][hapmap];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];0.86[YRI][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
2	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
5	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:117495400-117502600	Weak transcription	A549	lung
8	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
10	chr12:117497200-117500400	Weak transcription	Gastric	stomach
11	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
12	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:117498000-117500600	Enhancers	Fetal Thymus	thymus
14	chr12:117498200-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:117498400-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:117498600-117500600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:117498600-117500800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:117498600-117502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:117498800-117500400	Enhancers	Primary T cells from cord blood	blood
20	chr12:117498800-117500600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:117498800-117500600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:117498800-117500800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:117498800-117500800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:117498800-117501000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:117498800-117501000	Enhancers	Brain Anterior Caudate	brain
26	chr12:117498800-117501400	Enhancers	Stomach Mucosa	stomach
27	chr12:117498800-117514600	Strong transcription	HepG2	liver
28	chr12:117499000-117500400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:117499000-117500400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:117499000-117500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:117499000-117500600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:117499000-117500800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:117499000-117500800	Weak transcription	Esophagus	oesophagus
34	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:117499200-117500400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:117499200-117500400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:117499200-117500400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:117499200-117500400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:117499200-117500600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:117499200-117500600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:117499200-117502200	Weak transcription	Brain Substantia Nigra	brain
42	chr12:117499200-117507600	Weak transcription	Right Atrium	heart
43	chr12:117499200-117507800	Weak transcription	Lung	lung
44	chr12:117499400-117500400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:117499400-117500400	Weak transcription	Placenta	Placenta
46	chr12:117499400-117500400	Weak transcription	Thymus	Thymus
47	chr12:117499400-117500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:117499400-117500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:117499600-117500400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:117499600-117500600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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