Variant report

Variant	rs72872828
Chromosome Location	chr2:47778662-47778663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13384795	1.00[EUR][1000 genomes]
rs17217905	1.00[EUR][1000 genomes]
rs17224451	1.00[EUR][1000 genomes]
rs72888285	1.00[EUR][1000 genomes]
rs73927790	1.00[EUR][1000 genomes]
rs73929210	1.00[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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47762000-47784800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:47762800-47778800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:47763800-47785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:47770800-47779000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:47771400-47785400	Weak transcription	Ovary	ovary
6	chr2:47777400-47781600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:47778200-47780200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:47778200-47782200	Enhancers	Fetal Thymus	thymus
9	chr2:47778400-47778800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:47778400-47779200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:47778400-47779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:47778400-47781000	Enhancers	Dnd41	blood
13	chr2:47778400-47781200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:47778600-47778800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:47778600-47778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:47778600-47779200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:47778600-47779600	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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