Variant report

Variant	rs73285647
Chromosome Location	chr12:42722247-42722248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42629790..42631923-chr12:42721928..42723681,2	MCF-7	breast:
2	chr12:42719966..42722637-chr12:42723927..42727064,4	K562	blood:
3	chr12:42714130..42715723-chr12:42721786..42723535,2	K562	blood:
4	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
5	chr12:42718944..42722637-chr12:42724163..42726509,5	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000015153	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11385212	0.83[AMR][1000 genomes]
rs1234113	0.83[AMR][1000 genomes]
rs1683193	0.83[AMR][1000 genomes]
rs2639128	0.83[AMR][1000 genomes]
rs56669009	0.83[AMR][1000 genomes]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549495	0.83[AMR][1000 genomes]
rs57582332	0.83[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59321446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60327465	0.83[AMR][1000 genomes]
rs60341977	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712113	0.83[AMR][1000 genomes]
rs712117	0.83[AMR][1000 genomes]
rs712121	0.83[AMR][1000 genomes]
rs712128	0.83[AMR][1000 genomes]
rs7132315	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7298660	0.83[AMR][1000 genomes]
rs7303532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272039	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273948	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280079	0.83[AMR][1000 genomes]
rs73280085	0.83[AMR][1000 genomes]
rs73280087	0.83[AMR][1000 genomes]
rs73280101	0.83[AMR][1000 genomes]
rs73281848	0.83[AMR][1000 genomes]
rs73281857	0.83[AMR][1000 genomes]
rs73281868	0.83[AMR][1000 genomes]
rs73281890	0.83[AMR][1000 genomes]
rs73281897	0.83[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078990	1.00[AMR][1000 genomes]
rs7957401	0.83[AMR][1000 genomes]
rs7960285	0.83[AMR][1000 genomes]
rs7964994	0.83[AMR][1000 genomes]
rs850828	0.83[AMR][1000 genomes]
rs864291	0.83[AMR][1000 genomes]
rs864298	0.83[AMR][1000 genomes]
rs9669751	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 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	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721000-42723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:42721000-42730000	Weak transcription	Placenta	Placenta
4	chr12:42721000-42730800	Weak transcription	Lung	lung
5	chr12:42721000-42731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:42721000-42758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:42721200-42722400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:42721200-42724400	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:42721200-42730200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:42721200-42732800	Weak transcription	Colonic Mucosa	Colon
11	chr12:42721400-42723000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:42721400-42724200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:42721400-42726200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:42721400-42726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:42721600-42722600	Genic enhancers	Primary B cells from cord blood	blood
16	chr12:42721600-42722600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:42721600-42722800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:42721600-42723000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:42721600-42723600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:42721600-42724000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:42721600-42724000	Weak transcription	Pancreas	Pancrea
22	chr12:42721600-42724400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:42721600-42725000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:42721600-42725000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:42721600-42725200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:42721600-42725200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:42721600-42725400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:42721600-42725400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:42721600-42725800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:42721600-42726200	Enhancers	HepG2	liver
31	chr12:42721600-42727000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:42721600-42728600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:42721600-42729200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:42721600-42729600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:42721600-42730000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:42721600-42730200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:42721600-42730200	Weak transcription	Ovary	ovary
38	chr12:42721600-42730800	Weak transcription	Fetal Intestine Small	intestine
39	chr12:42721600-42736600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:42721600-42739200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:42721600-42743000	Weak transcription	Esophagus	oesophagus
42	chr12:42721600-42747600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:42721600-42748600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:42721600-42750000	Weak transcription	Aorta	Aorta
45	chr12:42721600-42750600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:42721600-42751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
49	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
50	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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