Variant report

Variant	rs10418472
Chromosome Location	chr19:36723598-36723599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36713025..36717797-chr19:36719610..36723880,4	K562	blood:
2	chr19:36705688..36707627-chr19:36722412..36724988,2	K562	blood:
3	chr19:36721445..36724084-chr19:36726404..36728465,2	K562	blood:

Variant related genes	Relation type
ENSG00000167635	Chromatin interaction
ENSG00000196357	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10405434	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414444	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414754	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415692	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419962	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425424	1.00[AMR][1000 genomes]
rs11878240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882807	1.00[AMR][1000 genomes]
rs12104412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13345802	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56214452	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57994318	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61326559	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612167	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36707000-36726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36709000-36723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:36709000-36724000	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr19:36709400-36723800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr19:36710000-36725000	ZNF genes & repeats	GM12878-XiMat	blood
9	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
10	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:36711000-36724000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
13	chr19:36711800-36725000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:36711800-36726600	Strong transcription	Fetal Muscle Leg	muscle
15	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr19:36713400-36726600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:36714000-36731000	Strong transcription	Dnd41	blood
18	chr19:36714400-36731400	ZNF genes & repeats	Liver	Liver
19	chr19:36715200-36723600	Strong transcription	Placenta	Placenta
20	chr19:36715200-36731200	Strong transcription	Fetal Brain Female	brain
21	chr19:36715200-36731600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr19:36715400-36724200	Strong transcription	Hela-S3	cervix
23	chr19:36715800-36726800	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:36716000-36724400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:36716200-36723600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:36716200-36728600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr19:36716400-36723600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:36716400-36726600	Weak transcription	Fetal Heart	heart
29	chr19:36716400-36730000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:36716400-36730200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:36716600-36724600	Strong transcription	Fetal Lung	lung
32	chr19:36716600-36725600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr19:36716600-36727200	Strong transcription	Adipose Nuclei	Adipose
34	chr19:36716600-36728200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:36716600-36728200	ZNF genes & repeats	Lung	lung
36	chr19:36716600-36731400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:36716800-36725400	Strong transcription	Pancreas	Pancrea
38	chr19:36716800-36728000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr19:36716800-36730000	Strong transcription	Brain Germinal Matrix	brain
40	chr19:36716800-36730000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr19:36717000-36723800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:36717000-36725400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:36717000-36726400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:36717000-36726600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:36717000-36728600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:36717000-36728800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:36717000-36730200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:36717200-36724400	Strong transcription	NHDF-Ad	bronchial
49	chr19:36717200-36724600	Strong transcription	NH-A	brain
50	chr19:36717200-36725200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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