Variant report

Variant	rs4730061
Chromosome Location	chr7:104579776-104579777
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	GATA2	chr7:104579125-104579804	SH-SY5Y	brain:	n/a	n/a
2	CTCF	chr7:104579680-104579830	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr7:104579680-104579830	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr7:104579680-104579830	GM12872	blood:	n/a	n/a
5	EP300	chr7:104578690-104580324	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr7:104579660-104579810	HRE	kidney:	n/a	n/a
7	CTCF	chr7:104579760-104579910	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000237513	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10215748	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10487146	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972126	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12333819	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55818299	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57657113	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 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	chr7:104569800-104580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
3	chr7:104572200-104580000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104572200-104580800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:104573400-104580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:104573600-104580200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:104573800-104583200	Weak transcription	Fetal Heart	heart
8	chr7:104574000-104579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:104574000-104580800	Weak transcription	Colonic Mucosa	Colon
10	chr7:104574400-104582000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:104575200-104581600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:104575200-104581800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:104575400-104582000	Weak transcription	Stomach Mucosa	stomach
14	chr7:104577000-104579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:104577600-104579800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:104577600-104580600	Weak transcription	Spleen	Spleen
17	chr7:104577600-104580800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:104577800-104581200	Weak transcription	Primary B cells from cord blood	blood
19	chr7:104579200-104580400	Enhancers	GM12878-XiMat	blood
20	chr7:104579200-104580600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:104579400-104580000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:104579400-104580000	Enhancers	Fetal Kidney	kidney
23	chr7:104579400-104580400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:104579400-104580400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:104579400-104580400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:104579400-104580400	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:104579400-104580400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:104579400-104580600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:104579600-104579800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:104579600-104580400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:104579600-104580800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:104579600-104581000	Enhancers	Pancreas	Pancrea

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