Variant report

Variant	rs420242
Chromosome Location	chr19:44419030-44419031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44417389..44419476-chr19:44455184..44456716,2	K562	blood:
2	chr19:44417227..44419879-chr19:44421260..44423489,3	K562	blood:
3	chr19:44399167..44400668-chr19:44417596..44419983,2	K562	blood:

Variant related genes	Relation type
ENSG00000159905	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs239941	0.91[AFR][1000 genomes]
rs239945	0.91[AFR][1000 genomes]
rs396063	0.91[AFR][1000 genomes]
rs400319	0.91[AFR][1000 genomes]
rs408926	1.00[AFR][1000 genomes]
rs431247	1.00[AFR][1000 genomes]
rs432559	0.91[AFR][1000 genomes]
rs443524	1.00[AFR][1000 genomes]
rs444350	0.91[AFR][1000 genomes]
rs7254658	0.91[AFR][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	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44404000-44434800	ZNF genes & repeats	Liver	Liver
2	chr19:44406800-44427400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44407400-44427600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44412400-44426000	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:44414200-44420000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr19:44414200-44431400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:44415200-44420600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:44415200-44425000	ZNF genes & repeats	Fetal Lung	lung
10	chr19:44415600-44420200	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr19:44415600-44421000	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr19:44415600-44424200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44415600-44426800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:44415800-44419800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:44415800-44421000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
16	chr19:44415800-44421000	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr19:44415800-44425200	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr19:44416000-44421400	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr19:44416000-44423200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:44416000-44426200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:44416200-44420200	ZNF genes & repeats	NH-A	brain
22	chr19:44416200-44420800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:44416200-44421000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:44416200-44421000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:44416200-44421200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr19:44416200-44422600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:44416200-44424000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr19:44416200-44426000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:44416200-44427400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:44416600-44420200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr19:44416600-44421200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr19:44416600-44421400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:44416600-44429400	ZNF genes & repeats	A549	lung
34	chr19:44416800-44420200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr19:44416800-44420400	ZNF genes & repeats	Fetal Brain Male	brain
36	chr19:44416800-44420600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:44416800-44420800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:44416800-44420800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr19:44416800-44421000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr19:44416800-44421000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr19:44416800-44421000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr19:44416800-44421200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr19:44416800-44421400	ZNF genes & repeats	Colonic Mucosa	Colon
44	chr19:44416800-44423800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:44416800-44425000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
46	chr19:44416800-44427400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr19:44417000-44419400	ZNF genes & repeats	Fetal Heart	heart
48	chr19:44417000-44420000	ZNF genes & repeats	HSMM	muscle
49	chr19:44417000-44421000	ZNF genes & repeats	Osteobl	bone
50	chr19:44417000-44423800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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