Variant report

Variant	rs59474620
Chromosome Location	chr19:38189163-38189164
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	POLR2A	chr19:38189122-38189224	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38134173..38137861-chr19:38186479..38189500,3	K562	blood:

Variant related genes	Relation type
ENSG00000267319	TF binding region

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55638315	1.00[AFR][1000 genomes]
rs56019862	1.00[AFR][1000 genomes]
rs56030148	1.00[AFR][1000 genomes]
rs56265217	1.00[AFR][1000 genomes]
rs56266666	1.00[AFR][1000 genomes]
rs57542337	1.00[AFR][1000 genomes]
rs59096662	1.00[AFR][1000 genomes]
rs60588112	1.00[AFR][1000 genomes]
rs60756457	1.00[AFR][1000 genomes]
rs73930304	1.00[AFR][1000 genomes]
rs73930312	1.00[AFR][1000 genomes]
rs73930318	1.00[AFR][1000 genomes]
rs73932941	1.00[AFR][1000 genomes]
rs73932942	1.00[AFR][1000 genomes]
rs73932945	1.00[AFR][1000 genomes]
rs73932952	1.00[AFR][1000 genomes]
rs73932953	1.00[AFR][1000 genomes]
rs73932962	1.00[AFR][1000 genomes]
rs73932971	1.00[AFR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38183400-38190000	Weak transcription	Stomach Mucosa	stomach
3	chr19:38183600-38189400	Weak transcription	Psoas Muscle	Psoas
4	chr19:38183600-38190000	Weak transcription	Small Intestine	intestine
5	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
6	chr19:38184400-38208800	Weak transcription	HepG2	liver
7	chr19:38186400-38191200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:38186800-38189200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:38186800-38189800	Strong transcription	Fetal Stomach	stomach
10	chr19:38186800-38191200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:38187200-38190800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:38187200-38191600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:38187400-38189200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
16	chr19:38187400-38189800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:38187400-38190400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:38187400-38190600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:38187400-38190600	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr19:38187400-38190600	Strong transcription	Fetal Brain Female	brain
21	chr19:38187400-38190800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr19:38187400-38190800	Strong transcription	Brain Angular Gyrus	brain
23	chr19:38187400-38190800	Strong transcription	Brain Germinal Matrix	brain
24	chr19:38187400-38190800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:38187400-38190800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:38187400-38190800	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr19:38187400-38190800	ZNF genes & repeats	HSMM	muscle
28	chr19:38187400-38190800	ZNF genes & repeats	NHLF	lung
29	chr19:38187400-38191000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr19:38187400-38191000	Strong transcription	Brain Anterior Caudate	brain
31	chr19:38187400-38191000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:38187400-38191200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:38187400-38191400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:38187400-38191400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr19:38187400-38191400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
36	chr19:38187400-38191400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr19:38187400-38191600	ZNF genes & repeats	Liver	Liver
38	chr19:38187400-38191600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:38187400-38191800	Strong transcription	Fetal Lung	lung
40	chr19:38187400-38192600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr19:38187400-38192600	Strong transcription	Left Ventricle	heart
42	chr19:38187400-38192800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:38187400-38192800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:38187400-38199000	ZNF genes & repeats	A549	lung
45	chr19:38187400-38205800	Strong transcription	Dnd41	blood
46	chr19:38187400-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:38187600-38191200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:38187600-38191200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr19:38187600-38191600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr19:38187600-38191800	ZNF genes & repeats	Primary T cells from cord blood	blood

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