Variant report

Variant	rs10865345
Chromosome Location	chr2:64566318-64566319
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	ATF2	chr2:64565948-64566440	GM12878	blood:	n/a	n/a
2	BATF	chr2:64565999-64566336	GM12878	blood:	n/a	chr2:64566179-64566190 chr2:64566180-64566190
3	MTA3	chr2:64565980-64566500	GM12878	blood:	n/a	n/a
4	EBF1	chr2:64566041-64566365	GM12878	blood:	n/a	n/a
5	EBF1	chr2:64566164-64566349	GM12878	blood:	n/a	n/a
6	NFIC	chr2:64565978-64566374	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:64565955-64566561	GM12878	blood:	n/a	n/a
8	RUNX3	chr2:64565958-64566563	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:64553992..64556400-chr2:64565923..64567451,2	K562	blood:
2	chr2:64564168..64566762-chr2:64680101..64682837,2	MCF-7	breast:
3	chr2:64564561..64566931-chr2:64570797..64573696,2	K562	blood:

Variant related genes	Relation type
MIR4433	TF binding region
ENSG00000223935	Chromatin interaction
ENSG00000119862	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10182618	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10203643	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11682772	0.86[EUR][1000 genomes]
rs1426698	0.83[ASN][1000 genomes]
rs2162380	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4343453	0.81[EUR][1000 genomes]
rs4671086	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4671561	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4671562	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671563	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7565077	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64564800-64566800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:64565000-64568000	Weak transcription	Lung	lung
3	chr2:64565400-64566400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:64565400-64567200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:64565600-64566600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:64565800-64566400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:64565800-64566600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:64565800-64566600	Enhancers	NH-A	brain
9	chr2:64565800-64566800	Enhancers	NHEK	skin
10	chr2:64566000-64566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:64566000-64566400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:64566000-64566400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:64566000-64566400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:64566000-64566600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:64566000-64566600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:64566000-64566600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:64566000-64566600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:64566000-64566600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:64566000-64566600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:64566000-64566600	Enhancers	GM12878-XiMat	blood
21	chr2:64566000-64566600	Enhancers	HMEC	breast
22	chr2:64566000-64566800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:64566000-64566800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:64566000-64566800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:64566000-64566800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr2:64566000-64566800	Enhancers	Fetal Thymus	thymus
27	chr2:64566000-64567200	Enhancers	Thymus	Thymus
28	chr2:64566200-64566400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:64566200-64566600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:64566200-64566600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:64566200-64566600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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