Variant report

Variant	rs73048606
Chromosome Location	chr19:44229297-44229298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44221897..44223971-chr19:44228023..44231254,3	MCF-7	breast:
2	chr19:44228240..44229809-chr19:44281869..44283736,2	K562	blood:
3	chr19:44220970..44223411-chr19:44227786..44231306,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11555891	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346048	0.91[ASN][1000 genomes]
rs55795943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73048604	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44218200-44232600	Weak transcription	A549	lung
2	chr19:44219600-44231600	Weak transcription	Fetal Intestine Small	intestine
3	chr19:44220400-44240400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44222800-44232800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:44223800-44232200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:44224000-44231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:44224000-44231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:44224000-44232800	Weak transcription	Esophagus	oesophagus
9	chr19:44224200-44232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:44224400-44232200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:44224400-44232200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:44224400-44235000	Weak transcription	Hela-S3	cervix
13	chr19:44225200-44229400	Weak transcription	Spleen	Spleen
14	chr19:44225200-44231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:44225200-44232600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:44225200-44232800	Weak transcription	NHDF-Ad	bronchial
17	chr19:44225400-44232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:44225600-44231000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:44225600-44232800	Weak transcription	NHEK	skin
20	chr19:44225800-44232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:44225800-44234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:44226600-44232800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:44227800-44231800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:44227800-44232000	Enhancers	Primary hematopoietic stem cells	blood
25	chr19:44227800-44232200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:44228000-44230200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr19:44228000-44231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:44228000-44232000	Enhancers	Primary B cells from peripheral blood	blood
29	chr19:44228000-44232200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:44228200-44231000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44228400-44230800	Enhancers	Primary B cells from cord blood	blood
32	chr19:44228800-44231800	Enhancers	GM12878-XiMat	blood
33	chr19:44229000-44232200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44229200-44229400	Enhancers	Fetal Muscle Trunk	muscle
35	chr19:44229200-44229400	Enhancers	Stomach Mucosa	stomach
36	chr19:44229200-44230000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr19:44229200-44230000	Enhancers	Fetal Muscle Leg	muscle
38	chr19:44229200-44230000	Enhancers	Right Atrium	heart
39	chr19:44229200-44230200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:44229200-44230200	Enhancers	HUVEC	blood vessel
41	chr19:44229200-44232000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr19:44229200-44234400	Weak transcription	Rectal Mucosa Donor 31	rectum

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