Variant report

Variant	rs12573140
Chromosome Location	chr10:58122125-58122126
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	chr10:58120501-58122418	GM18505	blood:	n/a	n/a
2	POLR2A	chr10:58119390-58122767	GM12891	blood:	n/a	n/a
3	E2F4	chr10:58122077-58122277	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr10:58119354-58122168	K562	blood:	n/a	n/a
5	CEBPB	chr10:58121796-58122198	K562	blood:	n/a	n/a
6	POLR2A	chr10:58119003-58122749	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:58121424..58123944-chr10:58126016..58127888,2	MCF-7	breast:
2	chr10:58121092..58124611-chr10:58124835..58127266,3	K562	blood:
3	chr10:58121131..58123400-chr10:58127785..58130133,3	MCF-7	breast:

Variant related genes	Relation type
ZWINT	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12264132	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571653	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12769485	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17653747	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1993001	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35153828	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4144610	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6481209	0.82[ASN][1000 genomes]
rs71492688	0.94[AMR][1000 genomes];0.89[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	esv2752691	chr10:57738694-58541894	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831883	chr10:57947759-58139056	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv895503	chr10:58029209-58201703	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895504	chr10:58029209-58230622	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1035842	chr10:58084841-58150135	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58120000-58122400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:58120000-58122400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:58120200-58122200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:58120200-58122400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:58120200-58122400	Active TSS	GM12878-XiMat	blood
6	chr10:58120200-58122800	Active TSS	K562	blood
7	chr10:58120400-58122400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:58120400-58122400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:58120400-58122400	Active TSS	HMEC	breast
10	chr10:58120400-58122600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:58120600-58122400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:58120600-58122400	Active TSS	Fetal Intestine Large	intestine
13	chr10:58120600-58122600	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr10:58120800-58122200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:58120800-58122200	Active TSS	Fetal Thymus	thymus
16	chr10:58120800-58122200	Active TSS	Dnd41	blood
17	chr10:58121800-58122200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:58121800-58122200	Active TSS	HepG2	liver
19	chr10:58121800-58122400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr10:58121800-58122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:58122000-58122200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:58122000-58122200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:58122000-58122400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:58122000-58122400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:58122000-58122400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:58122000-58122400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:58122000-58122400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:58122000-58122400	Enhancers	HUVEC	blood vessel
29	chr10:58122000-58122600	Enhancers	Primary T cells from cord blood	blood
30	chr10:58122000-58122600	Enhancers	Fetal Heart	heart
31	chr10:58122000-58122600	Enhancers	NHEK	skin
32	chr10:58122000-58124200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:58122000-58124600	Weak transcription	A549	lung
34	chr10:58122000-58125400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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