Variant report

Variant	rs444350
Chromosome Location	chr19:44429469-44429470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44428720..44431095-chr19:44436535..44438847,3	K562	blood:

Variant related genes	Relation type
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs239941	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs239945	1.00[AFR][1000 genomes]
rs386662	0.83[AFR][1000 genomes]
rs396063	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs400319	1.00[AFR][1000 genomes]
rs408926	0.91[AFR][1000 genomes]
rs420242	0.91[AFR][1000 genomes]
rs431247	0.91[AFR][1000 genomes]
rs432559	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs443524	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7254658	1.00[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:126 , 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	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44414200-44431400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:44417000-44429600	ZNF genes & repeats	GM12878-XiMat	blood
5	chr19:44417000-44437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:44418400-44432600	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr19:44418600-44431600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:44418600-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44418800-44431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:44419400-44431600	Strong transcription	Right Ventricle	heart
11	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:44420000-44435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:44420000-44437200	Strong transcription	Placenta	Placenta
14	chr19:44420000-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:44420000-44437800	Strong transcription	HSMM	muscle
16	chr19:44420200-44437200	Strong transcription	HSMMtube	muscle
17	chr19:44420200-44437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:44420400-44437400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:44420600-44437000	Strong transcription	Dnd41	blood
21	chr19:44420600-44437200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:44420600-44437200	Strong transcription	Fetal Thymus	thymus
23	chr19:44420600-44437400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:44420600-44437600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:44420800-44436200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:44420800-44437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:44421000-44429800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr19:44421000-44431600	Strong transcription	Osteobl	bone
29	chr19:44421000-44431800	Strong transcription	Brain Cingulate Gyrus	brain
30	chr19:44421000-44437000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:44421000-44437000	Strong transcription	Brain Anterior Caudate	brain
32	chr19:44421000-44437200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:44421000-44437400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:44421000-44438200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:44421000-44438200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:44421200-44437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:44421400-44437200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:44421400-44437600	Strong transcription	Brain Substantia Nigra	brain
39	chr19:44421600-44433400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:44422000-44437000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr19:44422400-44437200	Strong transcription	Brain Angular Gyrus	brain
42	chr19:44422600-44437400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:44422800-44437400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:44423200-44437000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:44423400-44433200	Weak transcription	Stomach Mucosa	stomach
46	chr19:44423600-44437000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:44423800-44437200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:44423800-44437400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:44424000-44431000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:44424000-44431600	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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