Variant report

Variant	rs1822742
Chromosome Location	chr12:46574298-46574299
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46573925..46576838-chr12:46660528..46662808,2	MCF-7	breast:
2	chr12:46568468..46574649-chr12:46659146..46664574,11	MCF-7	breast:
3	chr12:46573740..46577204-chr12:46578047..46580277,3	K562	blood:
4	chr12:46573561..46575432-chr12:46607086..46609035,3	MCF-7	breast:
5	chr12:46525722..46528173-chr12:46573094..46575120,2	MCF-7	breast:
6	chr12:46571164..46575821-chr12:46593446..46599247,7	MCF-7	breast:
7	chr12:46573708..46576866-chr12:46605688..46609208,4	MCF-7	breast:
8	chr12:46551690..46553717-chr12:46572033..46574511,2	MCF-7	breast:
9	chr12:46545870..46549422-chr12:46571809..46575827,4	MCF-7	breast:
10	chr12:46568020..46570065-chr12:46574289..46576151,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11183385	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs12581511	0.94[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742055	0.89[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742057	0.88[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826360	chr12:46515374-46598243	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46562000-46578000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46565000-46581000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:46567600-46575200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:46569000-46578600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46569000-46580600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:46569000-46589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:46570800-46574400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:46570800-46574600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:46570800-46575000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:46570800-46575200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:46571000-46574600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:46571800-46574600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:46572000-46574400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:46572000-46578800	Enhancers	Fetal Intestine Small	intestine
15	chr12:46572200-46577600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:46572200-46578000	Enhancers	Fetal Intestine Large	intestine
17	chr12:46572200-46578400	Weak transcription	Thymus	Thymus
18	chr12:46572200-46580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:46572200-46588200	Weak transcription	HUVEC	blood vessel
20	chr12:46572400-46574600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:46572400-46575000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:46572400-46578600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:46572400-46578800	Weak transcription	Fetal Thymus	thymus
24	chr12:46572400-46580600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:46572400-46588200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:46572600-46575800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:46572600-46575800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:46572600-46579600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:46572600-46581000	Weak transcription	Small Intestine	intestine
30	chr12:46572600-46589000	Weak transcription	Colonic Mucosa	Colon
31	chr12:46572600-46589000	Weak transcription	Dnd41	blood
32	chr12:46572800-46574400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:46572800-46588800	Weak transcription	Aorta	Aorta
34	chr12:46573000-46575000	Flanking Active TSS	GM12878-XiMat	blood
35	chr12:46573200-46574800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:46573600-46574600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr12:46573800-46579000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:46574000-46581200	Weak transcription	Left Ventricle	heart
39	chr12:46574000-46589000	Weak transcription	Lung	lung
40	chr12:46574200-46574400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:46574200-46574600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:46574200-46575000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:46574200-46575200	Weak transcription	Primary T cells from cord blood	blood
44	chr12:46574200-46578800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:46574200-46581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:46574200-46582400	Weak transcription	Brain Germinal Matrix	brain
47	chr12:46574200-46586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:46574200-46588400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:46574200-46588400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:46574200-46588800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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