Variant report

Variant	rs12481580
Chromosome Location	chr20:52325706-52325707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52323357..52326317-chr20:55802474..55805033,2	MCF-7	breast:
2	chr17:57915029..57917708-chr20:52325627..52328228,2	MCF-7	breast:
3	chr20:52322599..52324679-chr20:52324906..52327941,3	K562	blood:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6022676	0.84[CEU][hapmap];0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
5	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
8	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52316200-52330400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52319600-52328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:52321400-52326600	Enhancers	Fetal Thymus	thymus
4	chr20:52322400-52326400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:52322400-52326600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr20:52322400-52327000	Enhancers	Primary B cells from peripheral blood	blood
7	chr20:52322600-52325800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:52322600-52325800	Enhancers	HepG2	liver
9	chr20:52323000-52326200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr20:52323200-52326400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr20:52323400-52326200	Enhancers	Primary hematopoietic stem cells	blood
12	chr20:52323600-52326400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr20:52323600-52328800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52324000-52326000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:52324200-52326800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr20:52324200-52329200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr20:52324400-52328400	Weak transcription	Fetal Heart	heart
18	chr20:52324600-52328000	Weak transcription	Pancreas	Pancrea
19	chr20:52324600-52328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:52324800-52328000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:52324800-52328200	Weak transcription	Fetal Lung	lung
22	chr20:52325000-52325800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr20:52325000-52326200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr20:52325000-52326400	Enhancers	Thymus	Thymus
25	chr20:52325000-52326600	Enhancers	Primary B cells from cord blood	blood
26	chr20:52325000-52326800	Enhancers	Primary T cells from cord blood	blood
27	chr20:52325000-52327800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:52325000-52327800	Weak transcription	Liver	Liver
29	chr20:52325000-52327800	Weak transcription	Placenta	Placenta
30	chr20:52325000-52327800	Weak transcription	A549	lung
31	chr20:52325000-52328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr20:52325000-52328200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr20:52325000-52328200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr20:52325000-52328400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:52325000-52328800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr20:52325000-52330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:52325200-52326200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr20:52325200-52326200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr20:52325200-52326600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr20:52325200-52326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr20:52325200-52326800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr20:52325200-52327400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr20:52325200-52328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr20:52325200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr20:52325200-52328200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:52325200-52328200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr20:52325200-52328200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr20:52325200-52328200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr20:52325200-52328200	Weak transcription	Spleen	Spleen
50	chr20:52325200-52328400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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