Variant report

Variant	rs11057905
Chromosome Location	chr12:122609131-122609132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122502045..122504371-chr12:122608979..122610694,2	K562	blood:
2	chr12:122607579..122610037-chr12:122611336..122613459,2	MCF-7	breast:
3	chr12:122515031..122519836-chr12:122606166..122610448,7	MCF-7	breast:
4	chr12:122601261..122606063-chr12:122607168..122609213,4	K562	blood:
5	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
6	chr12:122499812..122502771-chr12:122608974..122611870,4	MCF-7	breast:
7	chr12:122584007..122585799-chr12:122606891..122609136,2	K562	blood:
8	chr12:122492379..122495152-chr12:122604029..122610434,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256546	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000255856	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1047796	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1047813	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10744177	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10744335	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10773037	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846525	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11057184	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057654	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11059094	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11060477	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11061156	0.88[EUR][1000 genomes]
rs11061602	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11608788	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11608792	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11609875	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12366611	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28385906	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28401575	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28410367	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28414202	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28421373	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28430881	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28450064	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28453771	0.88[EUR][1000 genomes]
rs28461580	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28464252	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28478366	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28478717	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28498002	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28498376	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28503672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28506952	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28517281	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28529535	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28530689	0.84[EUR][1000 genomes]
rs28545660	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28548845	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28569273	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28580546	0.87[EUR][1000 genomes]
rs28585613	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28591322	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28605425	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28607028	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28613772	0.89[EUR][1000 genomes]
rs28626850	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28631172	0.89[EUR][1000 genomes]
rs28639626	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28642975	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28649184	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28652632	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28683032	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28699616	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28737311	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28739522	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34047484	0.87[EUR][1000 genomes]
rs34123446	0.88[EUR][1000 genomes]
rs34439774	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34532891	0.86[EUR][1000 genomes]
rs34741056	0.85[EUR][1000 genomes]
rs34974633	0.86[EUR][1000 genomes]
rs35249105	0.87[EUR][1000 genomes]
rs35676267	0.88[EUR][1000 genomes]
rs35764187	0.86[EUR][1000 genomes]
rs36079122	0.82[EUR][1000 genomes]
rs3809117	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892367	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758653	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758654	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758685	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758686	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758687	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758688	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758690	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758691	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61952902	0.85[EUR][1000 genomes]
rs61952904	0.86[EUR][1000 genomes]
rs61952920	0.83[EUR][1000 genomes]
rs61952922	0.88[EUR][1000 genomes]
rs61952923	0.87[EUR][1000 genomes]
rs6489238	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489242	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489244	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312210	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73217796	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7484733	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485054	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7485380	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485447	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486198	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487292	0.93[ASN][1000 genomes]
rs7487608	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488268	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7488393	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488857	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953704	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7955571	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955575	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7962500	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964148	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7967127	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975001	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
5	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
7	chr12:122603200-122610000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:122604400-122611200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:122606400-122611200	Enhancers	Fetal Muscle Leg	muscle
10	chr12:122607200-122610800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:122607400-122611600	Enhancers	Liver	Liver
12	chr12:122607600-122609200	Enhancers	Placenta	Placenta
13	chr12:122607600-122609200	Enhancers	Gastric	stomach
14	chr12:122607600-122609200	Enhancers	Lung	lung
15	chr12:122607800-122611800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:122608000-122611000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:122608000-122612800	Weak transcription	Fetal Brain Male	brain
18	chr12:122608200-122609200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr12:122608200-122609200	Enhancers	Spleen	Spleen
20	chr12:122608200-122610000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:122608200-122610800	Weak transcription	Thymus	Thymus
22	chr12:122608200-122611600	Weak transcription	Fetal Heart	heart
23	chr12:122608200-122611800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:122608200-122612000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:122608200-122612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:122608200-122612000	Enhancers	A549	lung
27	chr12:122608200-122612200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:122608200-122612200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:122608200-122612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:122608200-122613200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:122608200-122618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:122608200-122618800	Weak transcription	GM12878-XiMat	blood
33	chr12:122608400-122609800	Weak transcription	HepG2	liver
34	chr12:122608400-122610000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:122608400-122610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:122608400-122610000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:122608400-122610000	Weak transcription	Fetal Lung	lung
38	chr12:122608400-122610000	Weak transcription	Fetal Thymus	thymus
39	chr12:122608400-122610000	Weak transcription	Psoas Muscle	Psoas
40	chr12:122608400-122610000	Weak transcription	Osteobl	bone
41	chr12:122608400-122610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:122608400-122610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:122608400-122610800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:122608400-122610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:122608400-122610800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:122608400-122610800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:122608400-122611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:122608400-122611200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:122608400-122611200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:122608400-122611400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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