Variant report

Variant	rs6799088
Chromosome Location	chr3:46620274-46620275
allele	A/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	EP300	chr3:46620267-46620855	HepG2	liver:	n/a	chr3:46620570-46620579 chr3:46620566-46620580
2	NFIC	chr3:46620261-46620890	HepG2	liver:	n/a	n/a
3	FOXA1	chr3:46620267-46620859	HepG2	liver:	n/a	n/a
4	NFIC	chr3:46620235-46620962	ECC-1	luminal epithelium:	n/a	n/a
5	CHD1	chr3:46617928-46621284	H1-hESC	embryonic stem cell:	n/a	chr3:46619179-46619189

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46615629..46619191-chr3:46619379..46621638,3	K562	blood:

Variant related genes	Relation type
TDGF1	TF binding region
ENSG00000241186	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1402150	1.00[EUR][1000 genomes]
rs1474195	1.00[EUR][1000 genomes]
rs4682818	1.00[EUR][1000 genomes]
rs6768139	1.00[AMR][1000 genomes];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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46608400-46625400	Weak transcription	Right Atrium	heart
2	chr3:46615200-46620400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:46616200-46620400	Weak transcription	Stomach Mucosa	stomach
4	chr3:46616600-46620600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:46616800-46620800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr3:46616800-46626600	Weak transcription	Pancreas	Pancrea
7	chr3:46617000-46620600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:46617200-46620600	Weak transcription	Liver	Liver
9	chr3:46617200-46621600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:46617400-46620400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:46617400-46620800	Weak transcription	Gastric	stomach
12	chr3:46617600-46620600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr3:46617600-46620800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr3:46618200-46620400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr3:46618200-46620600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:46618200-46620800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:46618200-46622200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:46618400-46620400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:46618400-46621000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr3:46618400-46621600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:46618600-46620600	Weak transcription	Left Ventricle	heart
22	chr3:46618600-46620800	Weak transcription	Lung	lung
23	chr3:46618600-46620800	Weak transcription	Spleen	Spleen
24	chr3:46618800-46620400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:46618800-46624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:46619400-46620600	Enhancers	HepG2	liver
27	chr3:46619800-46621000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:46619800-46621200	Enhancers	Dnd41	blood
29	chr3:46620000-46620400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr3:46620200-46621200	Enhancers	Primary T cells from cord blood	blood
31	chr3:46620200-46621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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