Variant report

Variant	rs73667464
Chromosome Location	chr8:19794756-19794757
allele	G/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	MAX	chr8:19794387-19794782	Hela-S3	cervix:	n/a	n/a
2	SIN3A	chr8:19794385-19794767	H1-hESC	embryonic stem cell:	n/a	chr8:19794694-19794707
3	MAX	chr8:19794298-19794842	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr8:19794553-19794764	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr8:19794234-19794878	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr8:19794392-19794768	K562	blood:	n/a	chr8:19794730-19794744 chr8:19794684-19794700
7	BHLHE40	chr8:19794421-19794792	K562	blood:	n/a	n/a
8	MAX	chr8:19794338-19794900	HCT-116	colon:	n/a	n/a
9	USF1	chr8:19794364-19794889	HCT-116	colon:	n/a	n/a
10	USF1	chr8:19794304-19794871	H1-hESC	embryonic stem cell:	n/a	n/a
11	NFIC	chr8:19794525-19794899	ECC-1	luminal epithelium:	n/a	n/a
12	NFYB	chr8:19794502-19794809	Hela-S3	cervix:	n/a	chr8:19794650-19794664 chr8:19794650-19794665 chr8:19794652-19794662 chr8:19794647-19794662 chr8:19794650-19794665 chr8:19794650-19794663
13	STAT3	chr8:19794578-19794777	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr8:19794315-19794786	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr8:19794371-19794809	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr8:19794672-19794847	K562	blood:	n/a	n/a
17	RCOR1	chr8:19794446-19794878	K562	blood:	n/a	n/a
18	MAX	chr8:19794383-19794808	K562	blood:	n/a	n/a
19	FOS	chr8:19794477-19794821	MCF10A-Er-Src	breast:	n/a	chr8:19794654-19794663
20	MAX	chr8:19794455-19794882	MCF-7	breast:	n/a	n/a
21	MYC	chr8:19794528-19794791	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF384	chr8:19794473-19794913	K562	blood:	n/a	chr8:19794509-19794517
23	CHD2	chr8:19794483-19794780	Hela-S3	cervix:	n/a	n/a
24	SETDB1	chr8:19794353-19794794	U2OS	brain:	n/a	n/a
25	POLR2A	chr8:19794079-19795260	K562	blood:	n/a	n/a
26	MYC	chr8:19794471-19794812	K562	blood:	n/a	n/a
27	FOS	chr8:19794542-19794762	MCF10A-Er-Src	breast:	n/a	chr8:19794654-19794663
28	NFYB	chr8:19794492-19794840	K562	blood:	n/a	chr8:19794650-19794664 chr8:19794650-19794665 chr8:19794652-19794662 chr8:19794647-19794662 chr8:19794650-19794665 chr8:19794650-19794663
29	E2F4	chr8:19794435-19794805	MCF10A-Er-Src	breast:	n/a	chr8:19794652-19794661
30	E2F6	chr8:19794152-19794962	H1-hESC	embryonic stem cell:	n/a	chr8:19794652-19794661
31	MAX	chr8:19794389-19794801	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr8:19794348-19794821	K562	blood:	n/a	n/a
33	MYC	chr8:19794417-19794773	K562	blood:	n/a	n/a
34	USF2	chr8:19794412-19794804	H1-hESC	embryonic stem cell:	n/a	chr8:19794602-19794613
35	CHD2	chr8:19794434-19794791	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr8:19794247-19794866	H1-hESC	embryonic stem cell:	n/a	chr8:19794652-19794661
37	USF1	chr8:19794372-19794778	ECC-1	luminal epithelium:	n/a	n/a
38	USF1	chr8:19794379-19794775	K562	blood:	n/a	n/a
39	USF1	chr8:19794471-19794774	K562	blood:	n/a	n/a
40	USF2	chr8:19794432-19794788	Hela-S3	cervix:	n/a	chr8:19794602-19794613

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19793876..19796137-chr8:19796466..19799568,3	K562	blood:

Variant related genes	Relation type
LPL	TF binding region
ENSG00000175445	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10100420	1.00[AMR][1000 genomes]
rs10109854	1.00[AMR][1000 genomes]
rs12015247	1.00[AMR][1000 genomes]
rs259	1.00[AMR][1000 genomes]
rs28529022	1.00[AMR][1000 genomes]
rs55830938	1.00[AMR][1000 genomes]
rs56193920	1.00[AMR][1000 genomes]
rs57345602	1.00[AMR][1000 genomes]
rs58065180	1.00[AMR][1000 genomes]
rs59184895	1.00[AMR][1000 genomes]
rs61171174	1.00[AMR][1000 genomes]
rs7005541	1.00[AMR][1000 genomes]
rs73667439	1.00[AMR][1000 genomes]
rs73667442	1.00[AMR][1000 genomes]
rs73667448	1.00[AMR][1000 genomes]
rs73667450	1.00[AMR][1000 genomes]
rs73667452	1.00[AMR][1000 genomes]
rs73667453	0.83[AFR][1000 genomes]
rs73667456	1.00[AMR][1000 genomes]
rs73667457	1.00[AMR][1000 genomes]
rs73667458	1.00[AMR][1000 genomes]
rs73667460	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667466	1.00[AMR][1000 genomes]
rs73667467	1.00[AMR][1000 genomes]
rs73667471	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19794000-19796000	Enhancers	Fetal Heart	heart
2	chr8:19794200-19794800	Enhancers	Fetal Brain Male	brain
3	chr8:19794200-19795000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr8:19794200-19795000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr8:19794200-19795600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19794200-19795600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:19794200-19795800	Enhancers	Fetal Lung	lung
8	chr8:19794200-19796200	Enhancers	Adipose Nuclei	Adipose
9	chr8:19794400-19794800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:19794400-19794800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr8:19794400-19794800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:19794400-19794800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:19794400-19794800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:19794600-19794800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:19794600-19794800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:19794600-19794800	Bivalent Enhancer	Esophagus	oesophagus
17	chr8:19794600-19794800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:19794600-19794800	Active TSS	Fetal Brain Female	brain
19	chr8:19794600-19794800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr8:19794600-19794800	Enhancers	Placenta	Placenta
21	chr8:19794600-19794800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:19794600-19794800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr8:19794600-19794800	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:19794600-19795200	Enhancers	Aorta	Aorta
25	chr8:19794600-19796200	Weak transcription	K562	blood
26	chr8:19794600-19796400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:19794600-19796400	Weak transcription	Pancreas	Pancrea

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