Variant report

Variant	rs73203480
Chromosome Location	chr8:11560151-11560152
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	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr8:11559998-11560559	GM12878	blood:	n/a	chr8:11560228-11560237
3	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
5	POLR2A	chr8:11559578-11560211	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr8:11559838-11560954	H1-neurons	neurons:	n/a	n/a
7	GABPA	chr8:11559965-11560227	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11784821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11785555	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11786824	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4269498	0.80[EUR][1000 genomes]
rs4469416	1.00[AFR][1000 genomes]
rs57341427	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59101725	0.83[EUR][1000 genomes]
rs61277615	0.80[EUR][1000 genomes]
rs73203475	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73203478	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73203482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73203490	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73203493	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73203500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73205106	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73205108	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73205114	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73205120	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73205121	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7827193	0.80[EUR][1000 genomes]
rs7840794	0.85[EUR][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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11555600-11560200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:11557800-11561400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr8:11558200-11560800	Active TSS	Ovary	ovary
5	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:11558800-11560600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
7	chr8:11559000-11561400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:11559000-11561400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr8:11559200-11561600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:11559400-11560600	Flanking Active TSS	Pancreas	Pancrea
13	chr8:11559400-11561000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr8:11559400-11561400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr8:11559400-11561400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:11559400-11561400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr8:11559400-11561800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr8:11559400-11563200	Active TSS	Gastric	stomach
21	chr8:11559600-11560200	Enhancers	Liver	Liver
22	chr8:11559600-11560200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
23	chr8:11559600-11560400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr8:11559600-11560400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:11559600-11560600	Flanking Active TSS	Right Ventricle	heart
26	chr8:11559600-11560600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr8:11559600-11560800	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr8:11559600-11561400	Bivalent Enhancer	Brain Anterior Caudate	brain
29	chr8:11559600-11561400	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr8:11559600-11561600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr8:11559600-11561600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
35	chr8:11559800-11560200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr8:11559800-11560200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:11559800-11560200	Enhancers	HepG2	liver
38	chr8:11559800-11560200	Bivalent Enhancer	NHEK	skin
39	chr8:11559800-11560400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:11559800-11560400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:11559800-11560400	Enhancers	Fetal Heart	heart
42	chr8:11559800-11560400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
43	chr8:11559800-11560400	Bivalent Enhancer	HMEC	breast
44	chr8:11559800-11560600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:11559800-11560600	Bivalent Enhancer	Placenta	Placenta
46	chr8:11559800-11560600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
47	chr8:11559800-11560600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
48	chr8:11559800-11560600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr8:11559800-11561200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr8:11559800-11561600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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