Variant report

Variant	rs28548845
Chromosome Location	chr12:122594249-122594250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122592661..122594495-chr12:122598753..122600472,2	K562	blood:
2	chr12:122514781..122518776-chr12:122593485..122598871,7	MCF-7	breast:
3	chr12:122584343..122586500-chr12:122592912..122594836,2	K562	blood:
4	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
5	chr12:122584343..122586345-chr12:122592314..122594836,2	K562	blood:
6	chr12:122515231..122521385-chr12:122592674..122599384,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1047796	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1047813	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10744177	0.87[EUR][1000 genomes]
rs10744335	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770189	0.81[EUR][1000 genomes]
rs10773037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10846525	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11057184	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057654	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11057905	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11059094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11060477	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11061156	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061602	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11608788	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11608792	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11609875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11835818	0.84[EUR][1000 genomes]
rs12366611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12812519	0.81[EUR][1000 genomes]
rs1976859	0.83[EUR][1000 genomes]
rs2280573	0.83[EUR][1000 genomes]
rs2280574	0.83[EUR][1000 genomes]
rs28385906	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28401575	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28410367	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28414202	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28421373	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28430881	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28450064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28453771	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28461580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28464252	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28478366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28478717	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28498002	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28498376	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28503672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28506952	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28517281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28529535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28530689	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28545660	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28569273	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28580546	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28585613	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28591322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28605425	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28607028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613772	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28626850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28629903	0.86[EUR][1000 genomes]
rs28631172	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28639626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28642975	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28649184	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28652632	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28683032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28691281	0.83[EUR][1000 genomes]
rs28699616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28737311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28739522	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28759327	0.83[EUR][1000 genomes]
rs34047484	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34123446	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34439774	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34532891	0.93[EUR][1000 genomes]
rs34739240	0.81[EUR][1000 genomes]
rs34741056	0.92[EUR][1000 genomes]
rs34974633	0.93[EUR][1000 genomes]
rs35159488	0.81[EUR][1000 genomes]
rs35249105	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35676267	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35764187	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36079122	0.89[EUR][1000 genomes]
rs3809117	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3892367	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758653	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758654	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758685	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758686	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4758687	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758688	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758690	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758691	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56072019	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61952902	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61952904	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61952920	0.90[EUR][1000 genomes]
rs61952922	0.96[EUR][1000 genomes]
rs61952923	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489238	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6489242	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6489244	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7137049	0.83[EUR][1000 genomes]
rs7312210	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73217796	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7484733	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485054	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7485380	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485447	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486198	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7487292	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7487608	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7488268	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7488393	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7488857	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953704	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955571	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7955575	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7962500	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7964148	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7967127	0.85[EUR][1000 genomes]
rs7975001	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[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:102 , 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	chr12:122584800-122601200	Weak transcription	Dnd41	blood
5	chr12:122585000-122595800	Weak transcription	Fetal Kidney	kidney
6	chr12:122585400-122601400	Weak transcription	Brain Germinal Matrix	brain
7	chr12:122587400-122598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122588400-122594800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:122588400-122594800	Genic enhancers	K562	blood
10	chr12:122588400-122595400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:122588400-122596800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:122588800-122594800	Genic enhancers	Fetal Intestine Small	intestine
13	chr12:122588800-122595400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122589200-122594600	Enhancers	Left Ventricle	heart
15	chr12:122589200-122594800	Enhancers	Colonic Mucosa	Colon
16	chr12:122589800-122594600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:122590200-122594800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:122590400-122594400	Enhancers	Small Intestine	intestine
19	chr12:122590400-122594400	Enhancers	A549	lung
20	chr12:122590400-122594600	Enhancers	Psoas Muscle	Psoas
21	chr12:122590600-122594400	Enhancers	Primary T cells from cord blood	blood
22	chr12:122590800-122594400	Enhancers	HMEC	breast
23	chr12:122591000-122594400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:122591000-122601800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:122591200-122594600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:122591200-122600600	Weak transcription	Thymus	Thymus
28	chr12:122591200-122601400	Weak transcription	Primary B cells from cord blood	blood
29	chr12:122591200-122601400	Weak transcription	Esophagus	oesophagus
30	chr12:122591200-122602800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:122591400-122598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:122591800-122594600	Enhancers	Spleen	Spleen
33	chr12:122592000-122594400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:122592000-122595200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:122592000-122597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:122592000-122601200	Weak transcription	Fetal Lung	lung
37	chr12:122592200-122594400	Weak transcription	Brain Anterior Caudate	brain
38	chr12:122592200-122595800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:122592200-122596000	Weak transcription	Liver	Liver
40	chr12:122592200-122598200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:122592200-122601000	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:122592400-122595800	Enhancers	Hela-S3	cervix
44	chr12:122592400-122599000	Weak transcription	Right Atrium	heart
45	chr12:122592400-122600600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:122592400-122600600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:122592400-122601000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:122592400-122601000	Weak transcription	Brain Angular Gyrus	brain
49	chr12:122592400-122601000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:122592400-122601200	Weak transcription	Fetal Muscle Trunk	muscle

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