Variant report

Variant	rs28642975
Chromosome Location	chr12:122602305-122602306
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
2	chr12:122582916..122584991-chr12:122600194..122603011,2	MCF-7	breast:
3	chr12:122527628..122529704-chr12:122601189..122603707,2	MCF-7	breast:
4	chr12:122601261..122606063-chr12:122607168..122609213,4	K562	blood:
5	chr12:122601548..122603416-chr12:122604759..122607600,2	K562	blood:
6	chr12:122594427..122596064-chr12:122601352..122602950,2	K562	blood:
7	chr12:122597480..122599140-chr12:122601411..122603902,2	K562	blood:
8	chr12:122496130..122500092-chr12:122599945..122602978,3	K562	blood:
9	chr12:122492460..122495753-chr12:122599733..122603330,4	MCF-7	breast:

No data

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1047796	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1047813	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10744177	0.85[EUR][1000 genomes]
rs10744335	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10773037	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846525	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057184	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057654	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057905	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11059094	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11060477	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061156	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061602	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11608788	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11608792	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11609875	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11835818	0.81[EUR][1000 genomes]
rs12366611	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28385906	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28401575	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410367	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28414202	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28421373	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28430881	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450064	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28453771	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28461580	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28464252	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478366	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28478717	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498002	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498376	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503672	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28506952	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28517281	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28529535	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530689	0.89[EUR][1000 genomes]
rs28545660	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28548845	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28569273	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28580546	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28585613	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591322	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605425	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28607028	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28613772	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28626850	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28629903	0.83[EUR][1000 genomes]
rs28631172	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28639626	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28649184	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28652632	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28683032	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28691281	0.80[EUR][1000 genomes]
rs28699616	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28737311	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28739522	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28759327	0.81[EUR][1000 genomes]
rs34047484	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34123446	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34439774	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34532891	0.90[EUR][1000 genomes]
rs34741056	0.96[EUR][1000 genomes]
rs34974633	0.90[EUR][1000 genomes]
rs35249105	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35676267	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35764187	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36079122	0.88[EUR][1000 genomes]
rs3809117	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3892367	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758653	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758654	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758685	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758686	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758687	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758688	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4758690	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758691	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56072019	0.80[ASN][1000 genomes]
rs61952902	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61952904	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61952920	0.88[EUR][1000 genomes]
rs61952922	0.92[EUR][1000 genomes]
rs61952923	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489238	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6489242	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489244	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7312210	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73217796	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7484733	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7485054	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7485380	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7485447	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7486198	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7487292	0.80[ASN][1000 genomes]
rs7487608	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7488268	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7488393	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7488857	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953704	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955571	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7955575	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7962500	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7964148	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7967127	0.82[EUR][1000 genomes]
rs7975001	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[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:106 , 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	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
3	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:122591200-122602800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:122593400-122607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:122593600-122606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:122593600-122606200	Weak transcription	HUVEC	blood vessel
10	chr12:122593600-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:122593600-122607600	Weak transcription	NHLF	lung
12	chr12:122594600-122607600	Weak transcription	Left Ventricle	heart
13	chr12:122596200-122605400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:122596200-122606600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:122596200-122607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:122596800-122604400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:122596800-122606200	Weak transcription	Osteobl	bone
18	chr12:122596800-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:122596800-122607600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:122597600-122607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:122597800-122603000	Strong transcription	Fetal Stomach	stomach
22	chr12:122598200-122607600	Weak transcription	Placenta	Placenta
23	chr12:122598800-122603000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:122598800-122603000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:122598800-122603200	Strong transcription	Primary T cells from cord blood	blood
26	chr12:122599000-122603000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:122599000-122607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
29	chr12:122599200-122602400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:122599200-122604200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:122599200-122606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:122599200-122606400	Weak transcription	Right Atrium	heart
33	chr12:122599200-122607600	Weak transcription	HepG2	liver
34	chr12:122599200-122607600	Weak transcription	NHEK	skin
35	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:122599400-122602600	Weak transcription	Hela-S3	cervix
37	chr12:122599400-122606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122600000-122603000	Enhancers	Stomach Mucosa	stomach
39	chr12:122600200-122602800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:122600200-122603000	Enhancers	Liver	Liver
41	chr12:122600200-122603200	Enhancers	Pancreas	Pancrea
42	chr12:122600400-122603000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:122600400-122603000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:122600600-122602800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:122600600-122603200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:122600600-122603200	Enhancers	Gastric	stomach
47	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
48	chr12:122600800-122603200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:122600800-122603200	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:122601000-122602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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