Variant report

Variant	rs34233191
Chromosome Location	chr15:58574488-58574489
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr15:58574150-58574653	K562	blood:	n/a	n/a
2	TAL1	chr15:58574398-58574509	K562	blood:	n/a	n/a
3	EP300	chr15:58574474-58574945	HepG2	liver:	n/a	n/a
4	EP300	chr15:58574471-58574937	HepG2	liver:	n/a	n/a
5	NR2F2	chr15:58574274-58574911	K562	blood:	n/a	n/a
6	HDAC2	chr15:58574416-58574926	HepG2	liver:	n/a	n/a
7	NR2F2	chr15:58574388-58574966	HepG2	liver:	n/a	n/a
8	HNF4A	chr15:58574472-58574913	HepG2	liver:	n/a	n/a
9	SP1	chr15:58574453-58574921	HepG2	liver:	n/a	n/a
10	HDAC2	chr15:58574385-58574909	K562	blood:	n/a	n/a
11	MXI1	chr15:58574482-58574872	HepG2	liver:	n/a	n/a
12	RCOR1	chr15:58574295-58574810	K562	blood:	n/a	n/a
13	MAX	chr15:58574460-58574957	HepG2	liver:	n/a	chr15:58574796-58574806
14	HNF4G	chr15:58574466-58574920	HepG2	liver:	n/a	n/a
15	SPI1	chr15:58574263-58574492	K562	blood:	n/a	n/a
16	TEAD4	chr15:58574249-58574913	HepG2	liver:	n/a	n/a
17	HEY1	chr15:58574357-58574699	HepG2	liver:	n/a	n/a
18	NR2F2	chr15:58574273-58574963	HepG2	liver:	n/a	n/a
19	ZMIZ1	chr15:58574452-58574652	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58570070..58572100-chr15:58573346..58576052,2	K562	blood:
2	chr15:58572569..58575158-chr15:58577696..58579609,2	MCF-7	breast:

No data

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12903887	0.82[EUR][1000 genomes]
rs12914167	0.84[EUR][1000 genomes]
rs34436673	0.84[EUR][1000 genomes]
rs35440059	0.84[EUR][1000 genomes]
rs35525462	0.82[EUR][1000 genomes]
rs35768119	0.84[EUR][1000 genomes]
rs59220434	0.84[EUR][1000 genomes]
rs60276704	0.82[EUR][1000 genomes]
rs71478654	0.84[EUR][1000 genomes]
rs71478656	0.82[EUR][1000 genomes]
rs71478657	0.82[EUR][1000 genomes]
rs71478658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71478661	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv569599	chr15:58563209-58579956	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr15:58564400-58582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:58570800-58582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:58572800-58574800	Enhancers	K562	blood
4	chr15:58574200-58574600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:58574200-58574600	Flanking Active TSS	Liver	Liver
6	chr15:58574200-58574600	Enhancers	Placenta	Placenta
7	chr15:58574200-58574800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:58574200-58574800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:58574200-58574800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:58574200-58574800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:58574200-58574800	Enhancers	Right Atrium	heart
12	chr15:58574200-58575000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:58574200-58575400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:58574200-58575400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:58574200-58577400	Enhancers	HepG2	liver
16	chr15:58574400-58574600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:58574400-58574600	Enhancers	Left Ventricle	heart
18	chr15:58574400-58574800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:58574400-58574800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr15:58574400-58574800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:58574400-58574800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr15:58574400-58574800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:58574400-58574800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:58574400-58574800	Enhancers	Fetal Intestine Large	intestine
25	chr15:58574400-58574800	Enhancers	A549	lung
26	chr15:58574400-58574800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr15:58574400-58580200	Enhancers	Fetal Thymus	thymus

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