Variant report

Variant	rs73551692
Chromosome Location	chr19:40653144-40653145
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	chr19:40650738..40653619-chr19:40655657..40658931,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs450095	1.00[EUR][1000 genomes]
rs55724336	0.87[EUR][1000 genomes]
rs59307138	0.87[EUR][1000 genomes]
rs60037732	0.87[EUR][1000 genomes]
rs61655884	1.00[EUR][1000 genomes]
rs7245925	1.00[EUR][1000 genomes]
rs7249514	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7250763	0.87[EUR][1000 genomes]
rs7255186	0.87[EUR][1000 genomes]
rs73543966	0.87[EUR][1000 genomes]
rs73545987	0.87[EUR][1000 genomes]
rs73545999	0.87[EUR][1000 genomes]
rs73547626	0.87[EUR][1000 genomes]
rs73547631	0.87[EUR][1000 genomes]
rs73547672	0.87[EUR][1000 genomes]
rs73549807	0.87[EUR][1000 genomes]
rs73549809	0.87[EUR][1000 genomes]
rs73549848	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73551667	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106043	1.00[EUR][1000 genomes]
rs8106753	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv3336591	chr19:40647161-40670363	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40647400-40654400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:40647800-40654000	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:40648000-40654200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr19:40648200-40654600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr19:40648600-40653200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:40648600-40653200	Weak transcription	Hela-S3	cervix
7	chr19:40648800-40655000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:40649600-40653200	Weak transcription	Colonic Mucosa	Colon
9	chr19:40649800-40653200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:40649800-40654400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:40650200-40653800	Enhancers	Primary B cells from cord blood	blood
12	chr19:40650400-40653200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:40650400-40653200	Enhancers	GM12878-XiMat	blood
14	chr19:40650400-40653200	Weak transcription	HSMMtube	muscle
15	chr19:40650600-40653200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:40650600-40653400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:40650600-40654000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr19:40650600-40654400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr19:40650800-40653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:40651200-40653200	Weak transcription	Fetal Thymus	thymus
21	chr19:40651800-40653200	Weak transcription	Spleen	Spleen
22	chr19:40652000-40653400	Weak transcription	Primary T cells from cord blood	blood
23	chr19:40652000-40653400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:40652200-40653400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:40652400-40653200	Weak transcription	Placenta	Placenta
26	chr19:40652600-40653600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:40652800-40653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:40652800-40654200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:40653000-40653200	Enhancers	Adipose Nuclei	Adipose
30	chr19:40653000-40653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:40653000-40653400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:40653000-40654000	Enhancers	HUVEC	blood vessel
33	chr19:40653000-40654200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:40653000-40654600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr19:40653000-40654800	Enhancers	Primary hematopoietic stem cells	blood

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