Variant report

Variant	rs73531817
Chromosome Location	chr19:21230879-21230880
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	chr19:21230722..21233642-chr19:21264436..21267129,2	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10402206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406067	1.00[AMR][1000 genomes]
rs10406963	1.00[AMR][1000 genomes]
rs10407709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10409986	1.00[AMR][1000 genomes]
rs10410875	1.00[AMR][1000 genomes]
rs10413647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414113	1.00[AMR][1000 genomes]
rs10414275	1.00[AMR][1000 genomes]
rs10414637	1.00[AMR][1000 genomes]
rs10416560	1.00[AMR][1000 genomes]
rs10424510	1.00[AMR][1000 genomes]
rs10425744	1.00[AMR][1000 genomes]
rs10426896	1.00[AMR][1000 genomes]
rs11880192	1.00[AMR][1000 genomes]
rs11880228	1.00[AMR][1000 genomes]
rs12104385	1.00[AMR][1000 genomes]
rs13345915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670574	1.00[AMR][1000 genomes]
rs28780501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28840098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28861172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61734283	1.00[AMR][1000 genomes]
rs62122571	1.00[AMR][1000 genomes]
rs73546311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548266	1.00[AFR][1000 genomes];1.00[AMR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
2	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
3	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
6	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:21210200-21232200	Weak transcription	K562	blood
8	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
10	chr19:21220400-21235200	Weak transcription	NHDF-Ad	bronchial
11	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21223400-21231400	Weak transcription	Placenta	Placenta
15	chr19:21223400-21235600	Weak transcription	NH-A	brain
16	chr19:21224400-21231000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:21224400-21232800	ZNF genes & repeats	Dnd41	blood
18	chr19:21225200-21234200	Weak transcription	A549	lung
19	chr19:21225600-21237200	Weak transcription	HUVEC	blood vessel
20	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
21	chr19:21227800-21247200	Weak transcription	HepG2	liver
22	chr19:21228000-21233600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:21228800-21235400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:21229200-21231000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:21229600-21235600	Weak transcription	Brain Substantia Nigra	brain
26	chr19:21229800-21235400	Weak transcription	Brain Anterior Caudate	brain
27	chr19:21230000-21231000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:21230000-21231000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:21230000-21231000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr19:21230200-21232600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:21230400-21231000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr19:21230400-21231000	ZNF genes & repeats	HMEC	breast
33	chr19:21230600-21232400	Weak transcription	Fetal Brain Male	brain
34	chr19:21230600-21235600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:21230800-21231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:21230800-21231600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr19:21230800-21231600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:21230800-21231600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:21230800-21231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:21230800-21231600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr19:21230800-21231600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:21230800-21231600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:21230800-21231600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:21230800-21231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:21230800-21231600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:21230800-21231600	Weak transcription	Fetal Intestine Large	intestine
48	chr19:21230800-21231600	Weak transcription	Fetal Intestine Small	intestine
49	chr19:21230800-21231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:21230800-21231800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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