Variant report

Variant	rs12023756
Chromosome Location	chr1:217314139-217314140
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	chr1:217314066-217314533	H1-neurons	neurons:	n/a	n/a
2	E2F6	chr1:217313419-217314167	H1-hESC	embryonic stem cell:	n/a	chr1:217313597-217313609 chr1:217313559-217313568
3	YY1	chr1:217313758-217314342	H1-hESC	embryonic stem cell:	n/a	chr1:217314035-217314046
4	MAX	chr1:217313378-217314255	H1-hESC	embryonic stem cell:	n/a	chr1:217313746-217313756
5	CTBP2	chr1:217312986-217314261	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:217311976..217314907-chr1:217319601..217322587,2	MCF-7	breast:

Variant related genes	Relation type
ESRRG	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11117781	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1502358	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1502360	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846401	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	esv3363004	chr1:217312379-217314377	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217307200-217314200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:217307200-217314200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:217307400-217314200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:217312600-217314200	Bivalent Enhancer	Placenta	Placenta
5	chr1:217312800-217314200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:217312800-217314200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr1:217312800-217314400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:217313000-217314200	Active TSS	Right Atrium	heart
9	chr1:217313000-217314400	Active TSS	Right Ventricle	heart
10	chr1:217313200-217314200	Active TSS	Left Ventricle	heart
11	chr1:217313400-217314200	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr1:217313400-217314400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr1:217313600-217314200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:217313600-217314400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:217313600-217314600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr1:217313600-217314600	Flanking Active TSS	Fetal Heart	heart
17	chr1:217313800-217314200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:217313800-217314400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:217313800-217314400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:217313800-217314600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr1:217313800-217314600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr1:217313800-217314800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:217314000-217314200	Enhancers	Aorta	Aorta
24	chr1:217314000-217314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:217314000-217314600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:217314000-217314600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr1:217314000-217315200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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