Variant report

Variant	rs13393985
Chromosome Location	chr2:63530767-63530768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10084330	1.00[AFR][1000 genomes]
rs10196765	1.00[AMR][1000 genomes]
rs10197014	1.00[AMR][1000 genomes]
rs10199770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382368	1.00[AFR][1000 genomes]
rs13390439	1.00[AFR][1000 genomes]
rs13414491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1009191	chr2:63473443-63578508	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63524000-63532600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:63525400-63531000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:63525800-63530800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr2:63525800-63532600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr2:63526000-63531600	ZNF genes & repeats	Liver	Liver
6	chr2:63526000-63531800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:63526000-63531800	ZNF genes & repeats	Dnd41	blood
8	chr2:63526200-63530800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:63526400-63531000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:63528400-63531000	ZNF genes & repeats	Left Ventricle	heart
11	chr2:63529000-63531000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr2:63529400-63531600	Weak transcription	Aorta	Aorta
13	chr2:63529800-63531000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr2:63530000-63530800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr2:63530000-63530800	ZNF genes & repeats	Ovary	ovary
16	chr2:63530000-63531000	ZNF genes & repeats	Brain Angular Gyrus	brain
17	chr2:63530200-63530800	ZNF genes & repeats	Pancreas	Pancrea
18	chr2:63530400-63530800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:63530600-63530800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr2:63530600-63545800	Weak transcription	Primary T cells from cord blood	blood

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