Variant report

Variant	rs1269549
Chromosome Location	chr12:65098077-65098078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65096987..65099171-chr12:65100432..65102416,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1271334	0.81[EUR][1000 genomes]
rs15958	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1690263	0.87[ASN][1000 genomes]
rs1690264	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65075000-65108400	Weak transcription	NH-A	brain
2	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
5	chr12:65081800-65100400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:65085600-65106200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:65086000-65100000	Weak transcription	Psoas Muscle	Psoas
8	chr12:65086000-65100200	Weak transcription	Right Atrium	heart
9	chr12:65086400-65107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:65087200-65108200	Weak transcription	Osteobl	bone
11	chr12:65088200-65100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:65088200-65109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:65088800-65100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:65089000-65108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:65089000-65109400	Weak transcription	Ovary	ovary
16	chr12:65089400-65100600	Weak transcription	NHEK	skin
17	chr12:65089400-65100800	Weak transcription	HMEC	breast
18	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
19	chr12:65089600-65100000	Weak transcription	HSMMtube	muscle
20	chr12:65089600-65100200	Weak transcription	Left Ventricle	heart
21	chr12:65089600-65100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:65089600-65103000	Weak transcription	Lung	lung
23	chr12:65089600-65107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:65089600-65108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:65089600-65109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:65089600-65109600	Weak transcription	Gastric	stomach
27	chr12:65089600-65109600	Weak transcription	NHLF	lung
28	chr12:65089600-65109800	Weak transcription	Thymus	Thymus
29	chr12:65089600-65113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:65089800-65100200	Weak transcription	Placenta	Placenta
31	chr12:65089800-65100200	Weak transcription	Spleen	Spleen
32	chr12:65089800-65101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:65089800-65113200	Weak transcription	Right Ventricle	heart
34	chr12:65090200-65100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:65090200-65100600	Weak transcription	HepG2	liver
36	chr12:65090200-65107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:65090200-65108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:65090200-65108600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:65090200-65109400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:65090200-65109800	Weak transcription	K562	blood
41	chr12:65090200-65114600	Weak transcription	Aorta	Aorta
42	chr12:65090400-65100000	Weak transcription	HSMM	muscle
43	chr12:65090400-65107600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:65090400-65108000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:65090400-65108400	Weak transcription	Fetal Lung	lung
46	chr12:65090400-65115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:65090600-65100200	Weak transcription	Adipose Nuclei	Adipose
48	chr12:65090600-65106200	Weak transcription	Fetal Intestine Large	intestine
49	chr12:65090600-65106800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:65090800-65098600	Weak transcription	Fetal Heart	heart

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