Variant report

Variant	rs74100723
Chromosome Location	chr12:65044073-65044074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65017089..65019712-chr12:65042869..65045588,2	MCF-7	breast:
2	chr12:65044073..65047049-chr12:65048455..65050562,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256314	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55655091	1.00[AFR][1000 genomes]
rs55837927	1.00[AFR][1000 genomes]
rs56210002	1.00[AFR][1000 genomes]
rs56361026	0.95[AFR][1000 genomes]
rs57591736	0.91[AFR][1000 genomes]
rs57892940	0.91[AFR][1000 genomes]
rs58815475	1.00[AFR][1000 genomes]
rs60504329	1.00[AFR][1000 genomes]
rs60961957	0.84[AFR][1000 genomes]
rs61043338	0.91[AFR][1000 genomes]
rs61583185	1.00[AFR][1000 genomes]
rs61603142	1.00[AFR][1000 genomes]
rs61611512	1.00[AFR][1000 genomes]
rs73319681	0.91[AFR][1000 genomes]
rs73319695	0.91[AFR][1000 genomes]
rs73319699	1.00[AFR][1000 genomes]
rs73321717	1.00[AFR][1000 genomes]
rs73321729	1.00[AFR][1000 genomes]
rs73321732	1.00[AFR][1000 genomes]
rs73321736	1.00[AFR][1000 genomes]
rs73321741	1.00[AFR][1000 genomes]
rs73321744	1.00[AFR][1000 genomes]
rs73321748	1.00[AFR][1000 genomes]
rs73321754	1.00[AFR][1000 genomes]
rs73321759	1.00[AFR][1000 genomes]
rs73321764	1.00[AFR][1000 genomes]
rs73321766	1.00[AFR][1000 genomes]
rs73321767	1.00[AFR][1000 genomes]
rs73321779	1.00[AFR][1000 genomes]
rs74100755	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
3	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
4	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
6	chr12:65028400-65047400	Weak transcription	NHLF	lung
7	chr12:65028600-65056400	Weak transcription	NHEK	skin
8	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:65037400-65045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:65038200-65051200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:65038800-65045600	Weak transcription	Ovary	ovary
14	chr12:65041400-65048200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:65041400-65050400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:65041600-65044400	Enhancers	Right Ventricle	heart
17	chr12:65041600-65045200	Genic enhancers	Primary T cells from cord blood	blood
18	chr12:65041600-65047400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:65041600-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:65041600-65052200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:65041800-65044200	Enhancers	Pancreas	Pancrea
22	chr12:65041800-65044600	Enhancers	Left Ventricle	heart
23	chr12:65041800-65045800	Enhancers	Spleen	Spleen
24	chr12:65041800-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:65042000-65044200	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr12:65042000-65044200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:65042000-65044200	Enhancers	Right Atrium	heart
28	chr12:65042000-65044600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:65042200-65044800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:65042200-65045400	Weak transcription	Gastric	stomach
31	chr12:65042200-65047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:65042400-65044600	Enhancers	Fetal Heart	heart
33	chr12:65042400-65045400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:65042600-65044400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:65042600-65044800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:65043200-65044800	Enhancers	Adipose Nuclei	Adipose
37	chr12:65043200-65045400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:65043200-65045400	Enhancers	Fetal Stomach	stomach
39	chr12:65043200-65046400	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr12:65043200-65046600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:65043200-65048000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:65043400-65044200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:65043400-65044200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:65043400-65044200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:65043400-65044400	Weak transcription	Osteobl	bone
46	chr12:65043400-65044800	Enhancers	Placenta	Placenta
47	chr12:65043400-65044800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:65043400-65045000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr12:65043400-65045000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:65043400-65045000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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