Variant report

Variant	rs6665572
Chromosome Location	chr1:165325827-165325828
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	chr1:165322985-165326544	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:165325775-165325866	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr1:165325687-165325868	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr1:165321480-165326928	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr1:165320994-165326901	NT2-D1	testis:	n/a	n/a
6	SIN3A	chr1:165325476-165326555	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr1:165325637-165325843	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LMX1A	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1123821	0.87[EUR][1000 genomes]
rs12125353	0.87[EUR][1000 genomes]
rs12126669	0.87[EUR][1000 genomes]
rs12136025	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12136601	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13374068	0.87[EUR][1000 genomes]
rs1948743	0.87[EUR][1000 genomes]
rs1974080	0.87[EUR][1000 genomes]
rs2225185	0.87[EUR][1000 genomes]
rs28502486	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56375656	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6665237	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6686310	0.87[EUR][1000 genomes]
rs66911579	0.87[EUR][1000 genomes]
rs6693619	0.87[EUR][1000 genomes]
rs67130162	0.87[EUR][1000 genomes]
rs7538365	0.87[EUR][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	esv3400389	chr1:165325128-165326976	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165321200-165326400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:165321400-165326600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:165321600-165326000	Enhancers	Pancreas	Pancrea
4	chr1:165322800-165326400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:165323200-165326000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:165323400-165326000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:165323400-165326200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr1:165323400-165326400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:165323600-165326600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:165323800-165326400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:165324200-165326000	Bivalent Enhancer	Placenta	Placenta
12	chr1:165324200-165326400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:165324600-165326000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr1:165324600-165326000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr1:165324600-165326200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:165324600-165326200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
17	chr1:165324600-165326400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr1:165324800-165326000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr1:165325000-165326000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr1:165325000-165326000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr1:165325000-165326400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:165325000-165326600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:165325200-165326000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:165325200-165326000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr1:165325200-165326000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:165325200-165326000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:165325200-165326000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:165325200-165326000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr1:165325200-165326000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:165325200-165326200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:165325200-165326400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:165325400-165326000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:165325400-165326000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:165325400-165326000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr1:165325400-165326000	Active TSS	Aorta	Aorta
36	chr1:165325400-165326000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
37	chr1:165325400-165326000	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr1:165325400-165326000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr1:165325400-165326000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
40	chr1:165325400-165326200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:165325400-165326200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:165325400-165326200	Active TSS	Right Atrium	heart
43	chr1:165325400-165326400	Active TSS	Psoas Muscle	Psoas
44	chr1:165325600-165326000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr1:165325600-165326000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
46	chr1:165325600-165326000	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr1:165325600-165326000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
48	chr1:165325600-165326000	Bivalent/Poised TSS	Thymus	Thymus
49	chr1:165325600-165326000	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr1:165325600-165326200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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