Variant report

Variant	rs4759254
Chromosome Location	chr12:57096674-57096675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57094927..57096881-chr12:57105605..57107947,2	MCF-7	breast:
2	chr12:57077883..57080577-chr12:57094681..57096906,2	K562	blood:
3	chr12:57089245..57091057-chr12:57096522..57098278,2	K562	blood:

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1026565	0.82[CEU][hapmap]
rs10450	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs10783794	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs10876916	0.88[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1107479	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs11171914	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs11171951	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs12229457	0.81[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs1466382	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs1563896	0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1563897	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1979325	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs2035081	0.82[CEU][hapmap]
rs2255074	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs2290893	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2290894	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs2926741	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs2926743	0.81[CHB][hapmap]
rs2950387	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs2950389	0.83[JPT][hapmap]
rs2950390	0.80[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs2958123	0.88[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs2958127	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2958130	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2958148	0.80[CEU][hapmap]
rs2958153	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2958154	0.80[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs2958155	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs3214051	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs7295862	0.84[CEU][hapmap]
rs7313074	0.81[CHB][hapmap]
rs7967600	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs7978685	0.81[CHB][hapmap]
rs7980317	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs898609	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs898611	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs9368	0.81[CHB][hapmap]
rs941207	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs9634246	0.91[CHB][hapmap];0.94[JPT][hapmap]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559016	chr12:57095815-57112637	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57083800-57105200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:57089000-57109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57090400-57104600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:57090400-57104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:57093400-57104800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57094800-57100200	Weak transcription	K562	blood
7	chr12:57094800-57104800	Weak transcription	NH-A	brain
8	chr12:57094800-57105000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:57095000-57104600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:57095000-57104800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:57095000-57104800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:57095000-57104800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:57095000-57104800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:57095000-57104800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:57095000-57104800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:57095000-57104800	Weak transcription	Osteobl	bone
17	chr12:57095000-57105000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:57095000-57105000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:57095000-57105000	Weak transcription	Primary B cells from cord blood	blood
20	chr12:57095000-57105200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:57095200-57105000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:57095400-57100200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:57095400-57104800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:57095400-57104800	Weak transcription	Placenta	Placenta
25	chr12:57095600-57097400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:57096600-57098200	Enhancers	Primary monocytes fromperipheralblood	blood

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