Variant report

Variant	rs28544228
Chromosome Location	chr19:44238138-44238139
allele	A/C
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	chr19:44238012-44238751	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44235387..44237541-chr19:44237688..44239357,2	MCF-7	breast:

Variant related genes	Relation type
SMG9	TF binding region
ENSG00000105771	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10404922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416580	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4803656	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61676505	0.94[AFR][1000 genomes];1.00[AMR][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr19:44220400-44240400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44229400-44258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:44230000-44240000	Weak transcription	K562	blood
4	chr19:44231400-44256200	Strong transcription	Thymus	Thymus
5	chr19:44231400-44256400	Strong transcription	Fetal Stomach	stomach
6	chr19:44231600-44242800	Strong transcription	Fetal Intestine Small	intestine
7	chr19:44231600-44256200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr19:44231800-44240000	Weak transcription	Psoas Muscle	Psoas
9	chr19:44231800-44245400	Weak transcription	Right Atrium	heart
10	chr19:44232000-44243200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr19:44232000-44256200	Strong transcription	Fetal Brain Female	brain
12	chr19:44232000-44256600	Strong transcription	Brain Cingulate Gyrus	brain
13	chr19:44232200-44238400	Strong transcription	Brain Germinal Matrix	brain
14	chr19:44232200-44238800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:44232200-44238800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr19:44232200-44238800	Strong transcription	Left Ventricle	heart
17	chr19:44232200-44239000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr19:44232200-44239400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:44232200-44239400	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr19:44232200-44241600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:44232200-44241800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:44232200-44243000	Strong transcription	Fetal Intestine Large	intestine
23	chr19:44232200-44243200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:44232200-44243200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:44232200-44243200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:44232200-44248800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr19:44232200-44248800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:44232200-44253800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:44232200-44255600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:44232200-44256200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:44232200-44256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:44232200-44256600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:44232200-44256600	Strong transcription	Fetal Lung	lung
34	chr19:44232200-44257200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:44232400-44238800	Strong transcription	Pancreas	Pancrea
36	chr19:44232400-44246600	Strong transcription	Brain Substantia Nigra	brain
37	chr19:44232400-44251600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:44232400-44254600	Strong transcription	Fetal Thymus	thymus
39	chr19:44232400-44255600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr19:44232400-44256200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:44232400-44257000	Strong transcription	Primary T cells from cord blood	blood
42	chr19:44232600-44238600	Strong transcription	Ovary	ovary
43	chr19:44232600-44239000	Strong transcription	Brain Anterior Caudate	brain
44	chr19:44232600-44239600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:44232600-44240400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:44232600-44240400	Strong transcription	NHLF	lung
47	chr19:44232600-44242000	Strong transcription	A549	lung
48	chr19:44232600-44242800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr19:44232600-44243400	Strong transcription	HMEC	breast
50	chr19:44232600-44249200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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