Variant report

Variant	rs34588330
Chromosome Location	chr5:80690510-80690511
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	POLR2A	chr5:80689462-80690514	H1-neurons	neurons:	n/a	n/a
2	RFX5	chr5:80690380-80690514	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:80689215-80690523	H1-neurons	neurons:	n/a	n/a
4	GTF2F1	chr5:80690348-80690538	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr5:80690195-80690591	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:80690114-80690521	GM12878	blood:	n/a	n/a
7	SIN3A	chr5:80689946-80690563	H1-hESC	embryonic stem cell:	n/a	chr5:80690003-80690016 chr5:80690005-80690016
8	CHD1	chr5:80690192-80690603	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:80690340-80690520	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ACOT12	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10746	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13154229	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13155027	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155682	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13162911	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13176170	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13185752	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186206	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190050	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190332	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230425	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230796	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17296290	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2042981	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2059892	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2059893	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2162974	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs33989062	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34094852	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34442739	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34513795	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34594743	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34955738	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003041	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35367896	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35399912	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35626276	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35657180	0.83[AMR][1000 genomes]
rs3764985	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4703521	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703522	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703524	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703525	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4703834	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4703835	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4703837	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5005446	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71636272	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs723046	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80689200-80690600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:80689200-80690600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr5:80689200-80690600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:80689200-80690600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:80689200-80690600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:80689200-80690600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:80689200-80690600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:80689200-80690600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:80689200-80690600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:80689200-80690600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:80689200-80690600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:80689200-80690600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:80689200-80690600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr5:80689200-80690600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr5:80689200-80690600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:80689200-80690600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:80689200-80690600	Active TSS	Osteobl	bone
18	chr5:80689400-80690600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:80689400-80690600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:80689400-80690600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr5:80689400-80690600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr5:80689400-80690600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr5:80689400-80690600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:80689400-80690600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:80689400-80690600	Active TSS	Aorta	Aorta
26	chr5:80689400-80690600	Active TSS	Brain Angular Gyrus	brain
27	chr5:80689400-80690600	Active TSS	Brain Anterior Caudate	brain
28	chr5:80689400-80690600	Bivalent/Poised TSS	Colonic Mucosa	Colon
29	chr5:80689400-80690600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:80689400-80690600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:80689400-80690600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr5:80689400-80690600	Active TSS	Right Atrium	heart
33	chr5:80689400-80690600	Active TSS	HSMM	muscle
34	chr5:80689400-80690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:80689600-80690600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:80689600-80690600	Active TSS	Brain Cingulate Gyrus	brain
37	chr5:80689600-80690600	Flanking Active TSS	Pancreas	Pancrea
38	chr5:80689600-80690600	Active TSS	Rectal Smooth Muscle	rectum
39	chr5:80689600-80690600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr5:80689600-80690600	Active TSS	NH-A	brain
41	chr5:80689600-80690600	Active TSS	NHDF-Ad	bronchial
42	chr5:80689600-80690800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:80689800-80690600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr5:80689800-80690600	Active TSS	Ovary	ovary
45	chr5:80689800-80693200	Weak transcription	Fetal Brain Male	brain
46	chr5:80690000-80690600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:80690000-80690600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:80690000-80690600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr5:80690000-80690600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr5:80690000-80690800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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