Variant report

Variant	rs73680346
Chromosome Location	chr8:54789836-54789837
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	REST	chr8:54789500-54791579	HL-60	blood:	n/a	chr8:54790562-54790575 chr8:54791160-54791170 chr8:54790555-54790569 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790559-54790572 chr8:54790128-54790146
2	REST	chr8:54789277-54790978	ECC-1	luminal epithelium:	n/a	chr8:54790562-54790575 chr8:54790555-54790569 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790559-54790572 chr8:54790128-54790146
3	CTBP2	chr8:54789085-54790768	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr8:54789258-54790802	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr8:54789259-54790895	ECC-1	luminal epithelium:	n/a	n/a
6	SUZ12	chr8:54788529-54792712	NT2-D1	testis:	n/a	n/a
7	ZBTB7A	chr8:54789201-54790879	ECC-1	luminal epithelium:	n/a	chr8:54790686-54790697
8	SIN3A	chr8:54789048-54790901	H1-hESC	embryonic stem cell:	n/a	chr8:54790562-54790575 chr8:54790165-54790174 chr8:54790556-54790570 chr8:54789846-54789857
9	ZBTB7A	chr8:54789439-54790282	ECC-1	luminal epithelium:	n/a	n/a
10	BACH1	chr8:54789435-54790800	H1-hESC	embryonic stem cell:	n/a	n/a
11	SUZ12	chr8:54788938-54790834	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr8:54789196-54790837	H1-hESC	embryonic stem cell:	n/a	chr8:54790544-54790555 chr8:54789871-54789883 chr8:54790658-54790670

No.	Distal block	Cell Line	Cell type
1	chr8:54789285..54792223-chr8:54932900..54934940,2	K562	blood:
2	chr8:54785381..54788323-chr8:54789364..54792317,2	MCF-7	breast:
3	chr8:54788748..54791564-chr8:54792392..54794472,3	K562	blood:
4	chr8:54783474..54786409-chr8:54789438..54792325,2	K562	blood:

Variant related genes	Relation type
ENSG00000272457	TF binding region
RGS20	TF binding region
ENSG00000187735	Chromatin interaction
ENSG00000147509	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1004228	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10504158	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11985729	0.89[EUR][1000 genomes]
rs1384797	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1483538	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1483539	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1483540	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1483542	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16919616	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1842982	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1842983	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1842984	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2062226	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes]
rs4518622	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57546155	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57553178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58652215	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60696924	0.84[EUR][1000 genomes]
rs60819522	0.84[EUR][1000 genomes]
rs61231337	0.92[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes]
rs6994332	0.89[EUR][1000 genomes]
rs6997050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6998532	0.84[EUR][1000 genomes]
rs7016171	0.89[EUR][1000 genomes]
rs7017291	0.84[EUR][1000 genomes]
rs7017967	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73680325	0.84[EUR][1000 genomes]
rs73680341	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73680342	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827611	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7831399	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7846259	0.84[EUR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54785600-54791400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:54788600-54791600	Weak transcription	A549	lung
3	chr8:54788800-54790200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:54788800-54790600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:54789000-54790000	Bivalent Enhancer	Colon Smooth Muscle	Colon
6	chr8:54789000-54790000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr8:54789000-54790000	Bivalent Enhancer	HUVEC	blood vessel
8	chr8:54789000-54790200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr8:54789000-54790200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:54789000-54790800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:54789200-54790000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr8:54789200-54790200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:54789200-54790400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr8:54789200-54790400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:54789200-54790600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:54789200-54790600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr8:54789200-54790600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:54789200-54790600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:54789200-54790600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:54789200-54790600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:54789200-54790600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:54789200-54790600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:54789200-54790600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr8:54789200-54790600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr8:54789200-54790800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:54789200-54790800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:54789200-54790800	Bivalent Enhancer	Left Ventricle	heart
28	chr8:54789200-54792400	Enhancers	Lung	lung
29	chr8:54789400-54790000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:54789400-54790000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:54789400-54790000	Bivalent Enhancer	Liver	Liver
32	chr8:54789400-54790000	Bivalent Enhancer	Brain Substantia Nigra	brain
33	chr8:54789400-54790000	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr8:54789400-54790000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
35	chr8:54789400-54790000	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr8:54789400-54790000	Bivalent Enhancer	Ovary	ovary
37	chr8:54789400-54790200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:54789400-54790200	Bivalent Enhancer	Fetal Lung	lung
39	chr8:54789400-54790400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:54789400-54790400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:54789400-54790400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:54789400-54790400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
43	chr8:54789400-54790400	Bivalent Enhancer	Esophagus	oesophagus
44	chr8:54789400-54790600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr8:54789400-54790600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr8:54789400-54790600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr8:54789400-54790600	Flanking Bivalent TSS/Enh	NHLF	lung
48	chr8:54789400-54790600	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr8:54789400-54790800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:54789400-54790800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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