Variant report

Variant	rs12611267
Chromosome Location	chr19:44994736-44994737
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	chr19:44993270..44996512-chr19:44998152..45001010,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11881628	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020083	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293164	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2571108	0.97[ASN][1000 genomes]
rs2571109	0.97[ASN][1000 genomes]
rs2686759	0.86[ASN][1000 genomes]
rs3745146	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745147	0.91[ASN][1000 genomes]
rs4141695	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57946353	0.85[AMR][1000 genomes]
rs60625660	0.85[AMR][1000 genomes]
rs8104374	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs954313	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912115	chr19:44957508-44995990	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44978800-45003400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr19:44989000-44997000	Weak transcription	Hela-S3	cervix
3	chr19:44989200-44996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44990400-44995000	Weak transcription	Osteobl	bone
5	chr19:44991800-44994800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44991800-44994800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:44991800-44995000	Weak transcription	HSMM	muscle
8	chr19:44991800-44995200	Weak transcription	HSMMtube	muscle
9	chr19:44991800-44996000	Weak transcription	Fetal Heart	heart
10	chr19:44992000-44994800	Weak transcription	NHEK	skin
11	chr19:44992000-44995000	Weak transcription	Brain Angular Gyrus	brain
12	chr19:44992000-44995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:44992000-44995200	Weak transcription	HUVEC	blood vessel
14	chr19:44992200-44994800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:44992200-44994800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:44992200-44994800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr19:44992200-44994800	Weak transcription	Fetal Thymus	thymus
18	chr19:44992200-44995000	Weak transcription	Thymus	Thymus
19	chr19:44992200-44996400	Weak transcription	NH-A	brain
20	chr19:44992400-44995000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:44992800-44995000	Weak transcription	Aorta	Aorta
22	chr19:44992800-44995000	Weak transcription	Pancreas	Pancrea
23	chr19:44993600-45002000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:44993600-45002000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:44993600-45003600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:44993600-45003600	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr19:44993600-45003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:44993600-45003600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:44994000-44995000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:44994000-44995600	ZNF genes & repeats	A549	lung
31	chr19:44994000-44998200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:44994000-45000000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:44994000-45000000	ZNF genes & repeats	Fetal Kidney	kidney
34	chr19:44994000-45001800	ZNF genes & repeats	Dnd41	blood
35	chr19:44994000-45002200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr19:44994000-45002200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr19:44994000-45002600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr19:44994000-45002600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr19:44994000-45002800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr19:44994000-45002800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr19:44994000-45002800	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr19:44994000-45002800	ZNF genes & repeats	HepG2	liver
43	chr19:44994000-45003000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr19:44994000-45003000	ZNF genes & repeats	Fetal Brain Female	brain
45	chr19:44994000-45003000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr19:44994000-45003200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr19:44994000-45003200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
48	chr19:44994000-45003200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:44994000-45003200	ZNF genes & repeats	Liver	Liver
50	chr19:44994000-45003400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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