Variant report

Variant	rs349054
Chromosome Location	chr19:44303427-44303428
allele	C/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	MAX	chr19:44302284-44303531	HCT-116	colon:	n/a	n/a
2	ZNF263	chr19:44301624-44303510	HEK293-T-REx	kidney:	n/a	chr19:44303227-44303248
3	E2F6	chr19:44302558-44303431	H1-hESC	embryonic stem cell:	n/a	chr19:44302863-44302874 chr19:44302864-44302875 chr19:44302951-44302963 chr19:44302865-44302875

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
LYPD5	TF binding region
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10401526	0.83[AMR][1000 genomes]
rs10402032	0.83[AMR][1000 genomes]
rs10407794	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10426849	0.81[ASN][1000 genomes]
rs11666781	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11673595	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11673603	0.83[ASN][1000 genomes]
rs189445	0.82[AMR][1000 genomes]
rs2033492	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34257765	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34424221	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs349026	0.81[ASN][1000 genomes]
rs349027	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs349031	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs349036	0.82[AMR][1000 genomes]
rs349056	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs379758	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs492099	0.82[AMR][1000 genomes]
rs531471	0.82[AMR][1000 genomes]
rs797272	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44302400-44303600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:44302400-44303600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:44302400-44303600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:44302400-44303600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:44302400-44303800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:44302400-44303800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:44302400-44304000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:44302400-44304400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:44302600-44303600	Flanking Active TSS	Lung	lung
10	chr19:44302600-44303800	Flanking Active TSS	Placenta	Placenta
11	chr19:44302800-44303600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr19:44302800-44303600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr19:44302800-44303600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:44302800-44303600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr19:44302800-44304000	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr19:44303000-44303600	Active TSS	Placenta Amnion	Placenta Amnion
17	chr19:44303000-44303600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:44303000-44303800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:44303000-44303800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:44303000-44304200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:44303200-44303800	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:44303200-44303800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:44303200-44304000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr19:44303200-44304200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:44303200-44304200	Enhancers	Left Ventricle	heart
26	chr19:44303200-44304400	Enhancers	HUVEC	blood vessel
27	chr19:44303400-44303600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:44303400-44303600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:44303400-44303600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:44303400-44303600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr19:44303400-44303600	Enhancers	K562	blood
32	chr19:44303400-44303600	Active TSS	NHEK	skin
33	chr19:44303400-44303800	Active TSS	Colonic Mucosa	Colon
34	chr19:44303400-44303800	Active TSS	Esophagus	oesophagus
35	chr19:44303400-44304000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:44303400-44304000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:44303400-44304000	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:44303400-44304000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr19:44303400-44304000	Flanking Active TSS	HMEC	breast
40	chr19:44303400-44304200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:44303400-44304200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:44303400-44304200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr19:44303400-44304200	Enhancers	Gastric	stomach
44	chr19:44303400-44304200	Enhancers	Stomach Mucosa	stomach
45	chr19:44303400-44304400	Enhancers	Hela-S3	cervix
46	chr19:44303400-44304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:44303400-44304600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:44303400-44304600	Enhancers	Spleen	Spleen
49	chr19:44303400-44305000	Weak transcription	Right Atrium	heart

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