Variant report

Variant	rs10426756
Chromosome Location	chr19:44253678-44253679
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	MAFK	chr19:44253373-44253684	Hela-S3	cervix:	n/a	chr19:44253492-44253509
2	MAFK	chr19:44253312-44253681	HepG2	liver:	n/a	chr19:44253492-44253509
3	MAFK	chr19:44253332-44253678	HepG2	liver:	n/a	chr19:44253492-44253509

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44252620..44255396-chr19:44285758..44288205,2	MCF-7	breast:

Variant related genes	Relation type
SMG9	TF binding region

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

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

rs_ID	r²[population]
rs10404922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416580	0.88[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]
rs28483837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4803656	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44229400-44258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:44231400-44256200	Strong transcription	Thymus	Thymus
3	chr19:44231400-44256400	Strong transcription	Fetal Stomach	stomach
4	chr19:44231600-44256200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:44232000-44256200	Strong transcription	Fetal Brain Female	brain
6	chr19:44232000-44256600	Strong transcription	Brain Cingulate Gyrus	brain
7	chr19:44232200-44253800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:44232200-44255600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:44232200-44256200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:44232200-44256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:44232200-44256600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:44232200-44256600	Strong transcription	Fetal Lung	lung
13	chr19:44232200-44257200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44232400-44254600	Strong transcription	Fetal Thymus	thymus
15	chr19:44232400-44255600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr19:44232400-44256200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:44232400-44257000	Strong transcription	Primary T cells from cord blood	blood
18	chr19:44232800-44255800	Strong transcription	Dnd41	blood
19	chr19:44232800-44256000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:44232800-44256400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:44232800-44256400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:44233200-44256000	Strong transcription	Lung	lung
23	chr19:44234200-44255000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:44235200-44255000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:44236200-44256000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:44236400-44255800	Strong transcription	Fetal Muscle Leg	muscle
27	chr19:44236400-44256200	Strong transcription	HepG2	liver
28	chr19:44237000-44256400	Strong transcription	Brain Hippocampus Middle	brain
29	chr19:44237200-44256600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:44237800-44257200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr19:44239800-44256200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr19:44240000-44255600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44240200-44256400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:44240200-44256400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr19:44240200-44256600	Strong transcription	Brain Germinal Matrix	brain
36	chr19:44240200-44256600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:44240600-44255200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:44242400-44255800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:44243600-44255000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:44243800-44256200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:44243800-44257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:44244000-44255000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:44244000-44255600	Strong transcription	HSMM	muscle
44	chr19:44244200-44256000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:44244200-44256400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:44244600-44256000	Strong transcription	Spleen	Spleen
47	chr19:44244800-44253800	Strong transcription	HMEC	breast
48	chr19:44244800-44254800	Strong transcription	HSMMtube	muscle
49	chr19:44244800-44255800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:44244800-44256000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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