Variant report

Variant	rs13429819
Chromosome Location	chr2:64283986-64283987
allele	A/G
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS54-3	chr2:64283928-64286123	NONHSAT071084
2	lnc-VPS54-3	chr2:64283928-64286123	refGeneNc_4218_NR_033837

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

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

rs_ID	r²[population]
rs10171434	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17028360	1.00[ASN][1000 genomes]
rs55666948	0.83[ASN][1000 genomes]
rs55728742	0.83[ASN][1000 genomes]
rs56183162	0.96[ASN][1000 genomes]
rs56227836	0.83[ASN][1000 genomes]
rs62138466	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62138467	0.96[ASN][1000 genomes]
rs7560803	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:21 , 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	chr2:64279600-64285400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64280000-64285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:64280000-64290600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:64281400-64284400	Enhancers	HMEC	breast
7	chr2:64281600-64290800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:64281600-64291200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:64282000-64284200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:64282000-64284400	Enhancers	NHEK	skin
11	chr2:64282000-64290200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:64282000-64290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:64282400-64284600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:64282400-64289200	Weak transcription	GM12878-XiMat	blood
15	chr2:64282600-64284200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:64282800-64290200	Weak transcription	Thymus	Thymus
17	chr2:64283000-64285600	Weak transcription	Placenta	Placenta
18	chr2:64283200-64284000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:64283400-64285200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:64283400-64285400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:64283400-64285400	Weak transcription	Fetal Thymus	thymus

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