Variant report

Variant	rs34188575
Chromosome Location	chr15:93252312-93252313
allele	C/T
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	GATA2	chr15:93251160-93252798	HUVEC	blood vessel:	n/a	n/a
2	NFIC	chr15:93252249-93252965	ECC-1	luminal epithelium:	n/a	chr15:93252314-93252342 chr15:93252554-93252571 chr15:93252702-93252730
3	GATA3	chr15:93252237-93253097	MCF-7	breast:	n/a	n/a
4	GATA3	chr15:93252242-93252923	MCF-7	breast:	n/a	n/a
5	REST	chr15:93252221-93252715	PFSK-1	brain:	n/a	n/a
6	NFIC	chr15:93252283-93252824	ECC-1	luminal epithelium:	n/a	chr15:93252314-93252342 chr15:93252554-93252571 chr15:93252702-93252730
7	SIN3AK20	chr15:93252053-93253201	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93245067..93247571-chr15:93251644..93254423,3	K562	blood:
2	chr15:93245067..93247571-chr15:93251644..93254423,2	K562	blood:
3	chr15:93250790..93254703-chr15:93255991..93258300,4	MCF-7	breast:

Variant related genes	Relation type
HMGN1P38	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12439654	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12442555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12906973	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1561304	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17648050	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1866171	0.81[ASN][1000 genomes]
rs34327113	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34913881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35277112	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35351684	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35839849	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35984805	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777729	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777730	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4778033	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58894958	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66899661	0.86[ASN][1000 genomes]
rs66934257	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67759391	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71412559	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71412560	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71412561	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71412562	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71412563	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71412564	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71412566	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71412567	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71412568	0.86[EUR][1000 genomes]
rs71412570	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71412571	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93245600-93257400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:93246200-93257400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:93247400-93253400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:93249000-93254600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:93249400-93257400	Weak transcription	Brain Substantia Nigra	brain
6	chr15:93249600-93257200	Weak transcription	Brain Anterior Caudate	brain
7	chr15:93250200-93254200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:93250200-93257200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:93250600-93253200	Enhancers	HUVEC	blood vessel
10	chr15:93251000-93252800	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:93251000-93253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:93251200-93252800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:93252200-93252400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:93252200-93252400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr15:93252200-93252800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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