Variant report

Variant	rs2884598
Chromosome Location	chr12:62944802-62944803
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	chr12:62940703..62942604-chr12:62944482..62947077,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10784309	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784310	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10784311	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10877884	0.83[ASN][1000 genomes]
rs7301113	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311194	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311623	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960329	0.85[ASN][1000 genomes]
rs7966917	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7975337	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
2	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
3	chr12:62903600-62949800	Weak transcription	NHEK	skin
4	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
7	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:62920000-62950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:62924400-62945600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:62924400-62949800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:62925400-62949800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:62926000-62945000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:62926000-62951400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:62926200-62949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:62926200-62951400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:62926200-62951600	Strong transcription	Fetal Thymus	thymus
20	chr12:62926200-62951800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:62926200-62955800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:62928000-62950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:62928200-62950000	Weak transcription	Fetal Brain Male	brain
26	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:62931800-62951400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:62932000-62947600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:62932000-62957200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:62932400-62946800	Weak transcription	K562	blood
31	chr12:62932400-62949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:62932400-62949800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:62933800-62948200	Weak transcription	Lung	lung
34	chr12:62934800-62955400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:62935000-62955200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:62935200-62945200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:62935400-62956400	Strong transcription	Placenta	Placenta
38	chr12:62935600-62955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:62936000-62955200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:62936200-62945600	Strong transcription	Fetal Lung	lung
41	chr12:62936200-62951200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:62936200-62951400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:62936400-62946600	Strong transcription	Liver	Liver
44	chr12:62936600-62956000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:62936800-62954600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:62937000-62945600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:62937000-62951200	Strong transcription	Dnd41	blood
48	chr12:62937200-62945200	Strong transcription	Fetal Intestine Large	intestine
49	chr12:62937800-62946600	Weak transcription	Pancreas	Pancrea
50	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach

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