Variant report

Variant	rs797272
Chromosome Location	chr19:44302276-44302277
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:44302146-44302528	K562	blood:	n/a	n/a
2	SIX5	chr19:44302199-44302524	K562	blood:	n/a	n/a
3	MAZ	chr19:44302241-44302377	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:44302142-44302368	MCF-7	breast:	n/a	n/a
5	ZNF263	chr19:44301624-44303510	HEK293-T-REx	kidney:	n/a	chr19:44303227-44303248
6	POLR2A	chr19:44302062-44302745	MCF-7	breast:	n/a	n/a
7	NR2F2	chr19:44302129-44302570	K562	blood:	n/a	n/a
8	NR2F2	chr19:44302233-44302515	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44301885..44304341-chr19:44304382..44306763,2	K562	blood:

Variant related genes	Relation type
ENSG00000268601	TF binding region
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10426849	0.83[ASN][1000 genomes]
rs11666781	0.91[ASN][1000 genomes]
rs11673595	0.91[ASN][1000 genomes]
rs11673603	0.85[ASN][1000 genomes]
rs34257765	0.91[ASN][1000 genomes]
rs34424221	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs349031	0.82[AMR][1000 genomes]
rs349054	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs349056	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs379758	0.91[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	esv3410496	chr19:44302164-44302435	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44290000-44302400	Weak transcription	NHEK	skin
3	chr19:44299600-44302400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:44301400-44302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:44301400-44302400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:44301800-44302400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:44301800-44302600	Enhancers	Esophagus	oesophagus
8	chr19:44302000-44302400	Enhancers	Spleen	Spleen
9	chr19:44302000-44302600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr19:44302200-44302400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr19:44302200-44302400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr19:44302200-44302400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr19:44302200-44302400	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:44302200-44302400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:44302200-44302400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:44302200-44302400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr19:44302200-44302400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:44302200-44302400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:44302200-44302400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:44302200-44302400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:44302200-44302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:44302200-44302400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:44302200-44302400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:44302200-44302400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr19:44302200-44302400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr19:44302200-44302400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr19:44302200-44302400	Enhancers	HMEC	breast
28	chr19:44302200-44302400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr19:44302200-44302600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:44302200-44302600	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr19:44302200-44302600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr19:44302200-44302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:44302200-44302600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr19:44302200-44302600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:44302200-44302600	Enhancers	Placenta	Placenta
36	chr19:44302200-44302600	Enhancers	Lung	lung
37	chr19:44302200-44302600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
38	chr19:44302200-44302800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr19:44302200-44303200	Flanking Active TSS	GM12878-XiMat	blood
40	chr19:44302200-44303400	Active TSS	Brain Angular Gyrus	brain
41	chr19:44302200-44303400	Active TSS	Brain Anterior Caudate	brain

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