Variant report

Variant	rs13383457
Chromosome Location	chr2:47882751-47882752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47869998..47872248-chr2:47882024..47884309,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10180717	1.00[AMR][1000 genomes]
rs13401743	1.00[AMR][1000 genomes]
rs17036681	1.00[AMR][1000 genomes]
rs17224969	1.00[AMR][1000 genomes]
rs17224990	1.00[AMR][1000 genomes]
rs6722010	1.00[AFR][1000 genomes];1.00[AMR][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	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv457396	chr2:47866133-47956844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581771	chr2:47866133-47956844	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581772	chr2:47874713-47892526	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47880200-47885800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:47880800-47883400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:47880800-47884000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:47881000-47883400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:47881000-47883600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47881000-47884000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:47881200-47882800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:47881200-47882800	Enhancers	Lung	lung
9	chr2:47881200-47883000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:47881200-47883000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:47881200-47883000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:47881200-47883200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:47881200-47883200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:47881200-47883200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:47881200-47883200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:47881200-47883200	Enhancers	Primary B cells from cord blood	blood
17	chr2:47881200-47883400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:47881400-47882800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:47881400-47885200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:47881800-47882800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:47881800-47886200	Weak transcription	Right Atrium	heart
22	chr2:47882000-47883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:47882200-47882800	Flanking Active TSS	GM12878-XiMat	blood
24	chr2:47882200-47883200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:47882200-47883600	Weak transcription	HMEC	breast
26	chr2:47882200-47883600	Weak transcription	NH-A	brain
27	chr2:47882400-47883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:47882600-47883800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:47882600-47886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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