Variant report

Variant	rs10207972
Chromosome Location	chr2:64283347-64283348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64279851..64282234-chr2:64282895..64285369,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10167126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13392513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13412867	0.92[EUR][1000 genomes]
rs1440005	0.86[EUR][1000 genomes]
rs17028348	0.81[EUR][1000 genomes]
rs1975295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1975296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2422112	1.00[EUR][1000 genomes]
rs2901644	1.00[EUR][1000 genomes]
rs35121160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4507090	1.00[EUR][1000 genomes]
rs61389158	1.00[EUR][1000 genomes]
rs73935051	0.93[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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	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
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64277400-64291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:64278600-64285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:64278800-64283400	Enhancers	Fetal Thymus	thymus
4	chr2:64279600-64285400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:64280000-64285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:64280000-64290600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:64281200-64283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:64281400-64284400	Enhancers	HMEC	breast
9	chr2:64281600-64290800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:64281600-64291200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:64282000-64284200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:64282000-64284400	Enhancers	NHEK	skin
13	chr2:64282000-64290200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:64282000-64290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:64282400-64284600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:64282400-64289200	Weak transcription	GM12878-XiMat	blood
17	chr2:64282600-64283400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:64282600-64284200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:64282800-64290200	Weak transcription	Thymus	Thymus
20	chr2:64283000-64285600	Weak transcription	Placenta	Placenta
21	chr2:64283200-64283400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:64283200-64284000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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