Variant report

Variant	rs6762368
Chromosome Location	chr3:69590905-69590906
allele	C/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	E2F6	chr3:69590804-69592178	H1-hESC	embryonic stem cell:	n/a	chr3:69591777-69591786 chr3:69591095-69591103 chr3:69591096-69591103 chr3:69591974-69591983 chr3:69591491-69591501 chr3:69591773-69591782 chr3:69591494-69591504 chr3:69591768-69591778 chr3:69591790-69591800
2	BACH1	chr3:69590703-69591163	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr3:69590367-69591107	MCF10A-Er-Src	breast:	n/a	chr3:69591042-69591049
4	POLR2A	chr3:69590811-69591835	HL-60	blood:	n/a	n/a
5	POLR2A	chr3:69590844-69591961	HL-60	blood:	n/a	n/a
6	MAX	chr3:69590775-69592151	H1-hESC	embryonic stem cell:	n/a	chr3:69591628-69591638 chr3:69591778-69591788 chr3:69591545-69591556 chr3:69591772-69591782 chr3:69591042-69591049
7	MYC	chr3:69590052-69591117	MCF10A-Er-Src	breast:	n/a	chr3:69590112-69590128 chr3:69591042-69591049
8	MAX	chr3:69590854-69592141	H1-hESC	embryonic stem cell:	n/a	chr3:69591628-69591638 chr3:69591778-69591788 chr3:69591545-69591556 chr3:69591772-69591782 chr3:69591042-69591049
9	E2F6	chr3:69590644-69592126	H1-hESC	embryonic stem cell:	n/a	chr3:69591777-69591786 chr3:69591095-69591103 chr3:69591096-69591103 chr3:69591974-69591983 chr3:69591491-69591501 chr3:69591773-69591782 chr3:69591494-69591504 chr3:69591768-69591778 chr3:69591790-69591800
10	SPI1	chr3:69590886-69591779	HL-60	blood:	n/a	chr3:69591514-69591521 chr3:69591505-69591512 chr3:69591520-69591527

Variant related genes	Relation type
FRMD4B	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4855413	0.86[ASN][1000 genomes]
rs55638663	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6549231	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6549235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549236	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6549238	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67465654	0.86[ASN][1000 genomes]
rs9310164	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9818139	0.91[ASN][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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69589400-69591000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:69589400-69591000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:69589600-69592400	Active TSS	HMEC	breast
4	chr3:69589800-69591200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:69589800-69592400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:69589800-69592400	Active TSS	Brain Anterior Caudate	brain
7	chr3:69589800-69592400	Active TSS	Brain Substantia Nigra	brain
8	chr3:69590000-69591000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:69590000-69591200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr3:69590000-69591200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr3:69590000-69591600	Active TSS	Spleen	Spleen
12	chr3:69590000-69592200	Active TSS	Brain Cingulate Gyrus	brain
13	chr3:69590000-69592200	Active TSS	Brain Hippocampus Middle	brain
14	chr3:69590000-69592400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:69590000-69592400	Active TSS	Brain Angular Gyrus	brain
16	chr3:69590000-69592600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:69590000-69592600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr3:69590000-69592600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr3:69590200-69591000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr3:69590200-69591000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:69590200-69591000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr3:69590200-69591200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:69590200-69591400	Active TSS	Esophagus	oesophagus
24	chr3:69590200-69591600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr3:69590200-69591600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr3:69590200-69591800	Active TSS	Fetal Brain Male	brain
27	chr3:69590200-69592000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr3:69590200-69592000	Active TSS	NHEK	skin
29	chr3:69590200-69592200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:69590200-69592400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:69590200-69592400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:69590200-69592400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:69590200-69592600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:69590400-69591200	Active TSS	Pancreas	Pancrea
35	chr3:69590400-69591200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr3:69590400-69591800	Flanking Active TSS	Right Ventricle	heart
37	chr3:69590400-69592000	Active TSS	Fetal Lung	lung
38	chr3:69590400-69592000	Active TSS	Left Ventricle	heart
39	chr3:69590400-69592200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr3:69590400-69592200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:69590400-69592200	Active TSS	Ovary	ovary
42	chr3:69590400-69592400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr3:69590400-69592400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:69590400-69592400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:69590600-69591000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr3:69590600-69591000	Bivalent Enhancer	Colon Smooth Muscle	Colon
47	chr3:69590600-69591000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr3:69590600-69591200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr3:69590600-69591200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr3:69590600-69591200	Bivalent/Poised TSS	Lung	lung

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