Variant report

Variant	rs379612
Chromosome Location	chr19:44506086-44506087
allele	A/G
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	ZNF263	chr19:44506057-44508044	HEK293-T-REx	kidney:	n/a	n/a
2	SREBP1	chr19:44505885-44508675	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44493777..44495330-chr19:44504111..44506690,2	K562	blood:
2	chr19:44486769..44491037-chr19:44505585..44508395,4	MCF-7	breast:
3	chr19:44506046..44508713-chr19:44597601..44599146,2	MCF-7	breast:
4	chr19:44505664..44508645-chr19:44527908..44530282,2	MCF-7	breast:
5	chr19:44487658..44489792-chr19:44505545..44508358,4	MCF-7	breast:

Variant related genes	Relation type
ZNF230	TF binding region
ENSG00000267022	Chromatin interaction
ENSG00000267144	Chromatin interaction
ENSG00000204920	Chromatin interaction
ENSG00000159885	Chromatin interaction
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs369083	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs379238	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388471	0.83[EUR][1000 genomes]
rs388812	1.00[EUR][1000 genomes]
rs448921	1.00[EUR][1000 genomes]
rs452554	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs453944	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
8	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
9	chr19:44499200-44506200	Weak transcription	NHLF	lung
10	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
13	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
19	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
20	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr19:44501200-44506400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:44501200-44506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:44501200-44506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:44501400-44506200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:44501400-44506200	Weak transcription	Primary B cells from cord blood	blood
26	chr19:44501400-44506200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:44501400-44506200	Weak transcription	Fetal Kidney	kidney
28	chr19:44501400-44506200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:44501400-44506200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:44501600-44506200	Weak transcription	Thymus	Thymus
31	chr19:44501600-44506200	Weak transcription	Osteobl	bone
32	chr19:44501600-44506400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:44501800-44506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:44501800-44506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44501800-44506200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:44501800-44506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:44501800-44506200	Weak transcription	Fetal Lung	lung
38	chr19:44501800-44506200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:44501800-44506400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:44501800-44506400	Weak transcription	Colonic Mucosa	Colon
41	chr19:44501800-44506400	Weak transcription	Placenta	Placenta
42	chr19:44502000-44506200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:44502000-44506200	Weak transcription	Brain Germinal Matrix	brain
44	chr19:44502000-44506200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:44502000-44506200	Weak transcription	Brain Substantia Nigra	brain
46	chr19:44502000-44506200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:44502000-44506200	Weak transcription	Right Ventricle	heart
48	chr19:44502000-44506200	Weak transcription	HSMMtube	muscle
49	chr19:44502000-44506400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:44502000-44506400	Weak transcription	Fetal Thymus	thymus

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