Variant report

Variant	rs74139070
Chromosome Location	chr1:214152884-214152885
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	ZNF143	chr1:214152729-214153485	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr1:214152868-214153592	H1-hESC	embryonic stem cell:	n/a	chr1:214153521-214153532 chr1:214153529-214153538

Variant related genes	Relation type
PROX1	TF binding region
PROX1-AS1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11808079	1.00[ASN][1000 genomes]
rs12065591	1.00[ASN][1000 genomes]
rs17021519	1.00[ASN][1000 genomes]
rs17021635	1.00[ASN][1000 genomes]
rs17021657	1.00[ASN][1000 genomes]
rs17021658	1.00[ASN][1000 genomes]
rs17021669	1.00[ASN][1000 genomes]
rs58653950	1.00[ASN][1000 genomes]
rs58802903	1.00[ASN][1000 genomes]
rs6656171	1.00[ASN][1000 genomes]
rs6665854	1.00[ASN][1000 genomes]
rs73084466	1.00[ASN][1000 genomes]
rs73084470	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	nsv873164	chr1:214112429-214224752	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214148800-214153200	Enhancers	Liver	Liver
2	chr1:214149400-214155800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:214150000-214153000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:214150800-214156200	Weak transcription	Gastric	stomach
5	chr1:214151200-214155000	Weak transcription	Pancreas	Pancrea
6	chr1:214151400-214153200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:214151800-214154800	Weak transcription	HepG2	liver
8	chr1:214152200-214154200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214152400-214153000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr1:214152400-214153000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr1:214152400-214154400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:214152600-214153000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
13	chr1:214152600-214153000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr1:214152600-214153200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr1:214152600-214153200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr1:214152600-214153400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:214152600-214154400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr1:214152600-214154400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:214152600-214155000	Enhancers	Fetal Heart	heart
20	chr1:214152600-214156600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr1:214152800-214153000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:214152800-214153000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:214152800-214153000	Bivalent Enhancer	Primary T cells from cord blood	blood
24	chr1:214152800-214153000	Bivalent Enhancer	Fetal Kidney	kidney
25	chr1:214152800-214153000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr1:214152800-214153400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:214152800-214153400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:214152800-214153600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:214152800-214153800	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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