Variant report

Variant	rs10424744
Chromosome Location	chr19:51520924-51520925
allele	G/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	RAD21	chr19:51519855-51520949	HCT-116	colon:	n/a	chr19:51520193-51520212 chr19:51520195-51520207 chr19:51520197-51520207
2	BACH1	chr19:51520088-51521006	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr19:51519844-51521062	HCT-116	colon:	n/a	chr19:51520193-51520212 chr19:51520195-51520207 chr19:51520197-51520207
4	POLR2A	chr19:51519972-51521183	HCT-116	colon:	n/a	n/a
5	MAX	chr19:51519974-51520994	A549	lung:	n/a	n/a
6	POLR2A	chr19:51519964-51521125	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
KLK10	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10423037	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423292	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7259651	0.98[EUR][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	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51519800-51521400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:51519800-51522000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr19:51519800-51522400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr19:51520000-51521000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:51520000-51521000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:51520000-51521000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr19:51520000-51521000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr19:51520000-51521000	Bivalent Enhancer	Spleen	Spleen
9	chr19:51520000-51521200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr19:51520000-51521200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:51520000-51522000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:51520000-51522400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:51520000-51522400	Active TSS	NHEK	skin
14	chr19:51520000-51522800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr19:51520000-51523000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:51520000-51523000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:51520000-51523400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr19:51520200-51521000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:51520200-51521000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:51520200-51521000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:51520200-51521000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:51520200-51521000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:51520200-51521000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:51520200-51521000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr19:51520200-51521000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:51520200-51521000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
27	chr19:51520200-51521000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr19:51520200-51521000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr19:51520200-51521000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
30	chr19:51520200-51521000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:51520200-51521000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr19:51520200-51521200	Bivalent Enhancer	Fetal Brain Male	brain
33	chr19:51520200-51521600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr19:51520200-51522000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:51520200-51523000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:51520200-51523400	Active TSS	Ovary	ovary
37	chr19:51520400-51521000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:51520400-51521000	Bivalent Enhancer	Liver	Liver
39	chr19:51520400-51523600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:51520600-51521000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:51520600-51521000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:51520600-51521000	Flanking Bivalent TSS/Enh	A549	lung
43	chr19:51520800-51521000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:51520800-51521000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:51520800-51521000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr19:51520800-51521000	Bivalent/Poised TSS	Esophagus	oesophagus
47	chr19:51520800-51521000	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr19:51520800-51521200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:51520800-51521600	Active TSS	HMEC	breast
50	chr19:51520800-51522000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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