Variant report

Variant	rs2447422
Chromosome Location	chr19:53053091-53053092
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53039880..53042500-chr19:53052327..53054340,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10411461	1.00[EUR][1000 genomes]
rs11882836	1.00[EUR][1000 genomes]
rs12979584	0.86[ASN][1000 genomes]
rs2029316	0.86[ASN][1000 genomes]
rs2061652	1.00[ASN][1000 genomes]
rs2162932	1.00[EUR][1000 genomes]
rs2931759	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34066730	0.86[ASN][1000 genomes]
rs34603606	0.86[ASN][1000 genomes]
rs34866464	0.86[ASN][1000 genomes]
rs35068231	0.86[ASN][1000 genomes]
rs35990292	0.86[ASN][1000 genomes]
rs35993483	0.86[ASN][1000 genomes]
rs4401146	0.86[ASN][1000 genomes]
rs55753173	1.00[EUR][1000 genomes]
rs55930753	1.00[ASN][1000 genomes]
rs57548816	1.00[EUR][1000 genomes]
rs58325433	1.00[EUR][1000 genomes]
rs59230195	1.00[EUR][1000 genomes]
rs60194947	1.00[EUR][1000 genomes]
rs60238878	1.00[EUR][1000 genomes]
rs60404252	1.00[EUR][1000 genomes]
rs60617297	1.00[ASN][1000 genomes]
rs60856351	1.00[EUR][1000 genomes]
rs61746334	0.86[ASN][1000 genomes]
rs73576268	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576294	1.00[EUR][1000 genomes]
rs73578242	1.00[EUR][1000 genomes]
rs73578286	1.00[ASN][1000 genomes]
rs73578289	1.00[ASN][1000 genomes]
rs73584860	1.00[EUR][1000 genomes]
rs73584871	1.00[EUR][1000 genomes]
rs73584874	1.00[EUR][1000 genomes]
rs73586713	1.00[EUR][1000 genomes]
rs73934550	1.00[EUR][1000 genomes]
rs73934555	1.00[EUR][1000 genomes]
rs8109739	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110537	1.00[EUR][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	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53032200-53057000	Weak transcription	Hela-S3	cervix
2	chr19:53039200-53056000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
3	chr19:53040000-53054400	Weak transcription	Fetal Heart	heart
4	chr19:53040200-53057400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:53040400-53057600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:53042000-53070400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:53042200-53068200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:53042600-53061200	ZNF genes & repeats	Liver	Liver
9	chr19:53044000-53056000	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr19:53044400-53059000	ZNF genes & repeats	GM12878-XiMat	blood
11	chr19:53044600-53053200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:53044600-53056000	ZNF genes & repeats	Lung	lung
13	chr19:53044600-53056400	Strong transcription	Dnd41	blood
14	chr19:53044800-53061200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:53045000-53053800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:53045000-53055800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:53046200-53055400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr19:53046200-53056800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:53046200-53059800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:53046400-53059200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:53046400-53069200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:53046600-53058400	ZNF genes & repeats	Spleen	Spleen
23	chr19:53046800-53055200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:53046800-53057200	Strong transcription	Right Ventricle	heart
25	chr19:53047000-53053200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:53047000-53053400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:53047000-53054200	Strong transcription	Left Ventricle	heart
28	chr19:53047000-53055400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:53047000-53056400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:53047400-53068200	ZNF genes & repeats	Thymus	Thymus
31	chr19:53047600-53058600	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr19:53047800-53068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:53048000-53054000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:53048000-53066400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr19:53048600-53061200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:53049200-53057000	Weak transcription	Brain Germinal Matrix	brain
37	chr19:53049400-53063800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:53049600-53056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:53049600-53060400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr19:53050000-53053400	Strong transcription	Colon Smooth Muscle	Colon
41	chr19:53050000-53054600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:53050200-53057800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr19:53050400-53065400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr19:53050400-53069200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:53050600-53054000	Strong transcription	Fetal Lung	lung
46	chr19:53050600-53061200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:53050800-53053600	Strong transcription	Aorta	Aorta
48	chr19:53050800-53061200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:53051000-53054600	ZNF genes & repeats	Pancreas	Pancrea
50	chr19:53051000-53061400	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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