Variant report

Variant	rs73531819
Chromosome Location	chr19:21231690-21231691
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	chr19:21230722..21233642-chr19:21264436..21267129,2	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2098682	0.94[AFR][1000 genomes]
rs57505697	0.94[AFR][1000 genomes]
rs57601660	0.96[AFR][1000 genomes]
rs57981503	0.83[AFR][1000 genomes]
rs59609198	0.94[AFR][1000 genomes]
rs60170851	0.94[AFR][1000 genomes]
rs7246695	0.87[AFR][1000 genomes]
rs7247066	0.87[AFR][1000 genomes]
rs7247670	0.87[AFR][1000 genomes]
rs73531882	1.00[AFR][1000 genomes]
rs73531886	1.00[AFR][1000 genomes]
rs73531897	0.96[AFR][1000 genomes]
rs73531902	0.96[AFR][1000 genomes]
rs73533607	0.94[AFR][1000 genomes]
rs73533690	0.92[AFR][1000 genomes]
rs73542640	0.83[AFR][1000 genomes]
rs73542656	0.83[AFR][1000 genomes]
rs73544576	0.83[AFR][1000 genomes]
rs73546306	0.94[AFR][1000 genomes]
rs8104371	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
5	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:21210200-21232200	Weak transcription	K562	blood
7	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
9	chr19:21220400-21235200	Weak transcription	NHDF-Ad	bronchial
10	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21223400-21235600	Weak transcription	NH-A	brain
14	chr19:21224400-21232800	ZNF genes & repeats	Dnd41	blood
15	chr19:21225200-21234200	Weak transcription	A549	lung
16	chr19:21225600-21237200	Weak transcription	HUVEC	blood vessel
17	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
18	chr19:21227800-21247200	Weak transcription	HepG2	liver
19	chr19:21228000-21233600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:21228800-21235400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:21229600-21235600	Weak transcription	Brain Substantia Nigra	brain
22	chr19:21229800-21235400	Weak transcription	Brain Anterior Caudate	brain
23	chr19:21230200-21232600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:21230600-21232400	Weak transcription	Fetal Brain Male	brain
25	chr19:21230600-21235600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:21230800-21231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:21230800-21231800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:21230800-21231800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:21230800-21232000	Weak transcription	Gastric	stomach
31	chr19:21230800-21232200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:21230800-21232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:21230800-21232200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:21230800-21232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:21230800-21232200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:21230800-21232200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:21230800-21232200	Weak transcription	Primary B cells from cord blood	blood
38	chr19:21230800-21232200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:21230800-21232200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:21230800-21232200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:21230800-21232200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:21230800-21232200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:21230800-21232200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:21230800-21232200	Weak transcription	Adipose Nuclei	Adipose
45	chr19:21230800-21232200	Weak transcription	Aorta	Aorta
46	chr19:21230800-21232200	Weak transcription	Liver	Liver
47	chr19:21230800-21232200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:21230800-21232200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:21230800-21232200	Weak transcription	Osteobl	bone
50	chr19:21230800-21232400	Weak transcription	Primary T cells from cord blood	blood

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