Variant report

Variant	rs72872831
Chromosome Location	chr2:47779357-47779358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:47779225-47779468	H1-hESC	embryonic stem cell:	n/a	chr2:47779275-47779287
2	CHD1	chr2:47779054-47779443	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr2:47779224-47779592	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr2:47779298-47779473	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MSH2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17036630	1.00[EUR][1000 genomes]
rs17218160	1.00[EUR][1000 genomes]
rs17218452	1.00[EUR][1000 genomes]
rs17225088	1.00[EUR][1000 genomes]
rs3863001	1.00[AMR][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:21 , 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	chr2:47763800-47785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47771400-47785400	Weak transcription	Ovary	ovary
4	chr2:47777400-47781600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:47778200-47780200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:47778200-47782200	Enhancers	Fetal Thymus	thymus
7	chr2:47778400-47779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:47778400-47781000	Enhancers	Dnd41	blood
9	chr2:47778400-47781200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:47778600-47779600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:47778800-47779600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:47778800-47779800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:47778800-47779800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:47778800-47780000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:47779000-47779600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:47779000-47780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:47779200-47779600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:47779200-47779600	Enhancers	Thymus	Thymus
19	chr2:47779200-47779800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:47779200-47783800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:47779200-47785400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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