Variant report

Variant	rs73730418
Chromosome Location	chr7:138348135-138348136
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	GATA2	chr7:138347008-138348135	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr7:138345131-138348889	SK-N-SH	brain:	n/a	chr7:138346991-138347005 chr7:138347217-138347224 chr7:138348643-138348657

Variant related genes	Relation type
SVOPL	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1901247	1.00[EUR][1000 genomes]
rs28503872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58440371	1.00[EUR][1000 genomes]
rs58568101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60569142	1.00[EUR][1000 genomes]
rs6948560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956401	1.00[AMR][1000 genomes]
rs6956608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459207	1.00[EUR][1000 genomes]
rs73729604	1.00[AMR][1000 genomes]
rs73730411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780581	1.00[AMR][1000 genomes]
rs7790139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9692528	1.00[EUR][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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138345600-138348200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:138345800-138348200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:138345800-138348600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
5	chr7:138346000-138348400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:138346000-138348400	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:138346000-138348400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:138346000-138348600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:138346200-138348400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:138346200-138348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:138346400-138348600	Enhancers	Placenta	Placenta
12	chr7:138346400-138348600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:138346600-138348400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:138346600-138348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:138346800-138348400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:138347200-138348200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:138347200-138348200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:138347400-138348400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:138347600-138348400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:138347600-138348400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:138347600-138348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:138347800-138348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:138347800-138348400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:138347800-138348400	Enhancers	Fetal Kidney	kidney
25	chr7:138347800-138348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:138347800-138348600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:138347800-138348600	Enhancers	Fetal Thymus	thymus
28	chr7:138348000-138348200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr7:138348000-138348400	Enhancers	Fetal Intestine Small	intestine
30	chr7:138348000-138348600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr7:138348000-138348600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:138348000-138348800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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