Variant report

Variant	rs72905553
Chromosome Location	chr2:189149695-189149696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189149428..189152220-chr2:189152481..189154778,2	K562	blood:
2	chr2:189147369..189150178-chr2:189166484..189168469,2	K562	blood:
3	chr2:189143598..189145777-chr2:189149493..189151488,2	K562	blood:
4	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
5	chr2:189136881..189139630-chr2:189148262..189150658,2	K562	blood:

Variant related genes	Relation type
ENSG00000207951	Chromatin interaction
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10185443	0.87[ASN][1000 genomes]
rs10931345	0.87[ASN][1000 genomes]
rs10931347	0.91[ASN][1000 genomes]
rs10931350	0.83[ASN][1000 genomes]
rs11675685	0.87[ASN][1000 genomes]
rs11680857	0.87[ASN][1000 genomes]
rs11687797	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11688935	0.91[ASN][1000 genomes]
rs11901438	0.95[ASN][1000 genomes]
rs11902539	0.87[ASN][1000 genomes]
rs12105671	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12613686	0.95[ASN][1000 genomes]
rs12619948	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12693496	0.83[ASN][1000 genomes]
rs4233800	0.91[ASN][1000 genomes]
rs4353610	0.91[ASN][1000 genomes]
rs4353611	0.91[ASN][1000 genomes]
rs4396678	0.87[ASN][1000 genomes]
rs4446047	0.83[ASN][1000 genomes]
rs4505490	0.91[ASN][1000 genomes]
rs55901476	0.95[ASN][1000 genomes]
rs62179645	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62179646	0.87[ASN][1000 genomes]
rs62179648	0.95[ASN][1000 genomes]
rs62179650	0.95[ASN][1000 genomes]
rs6434274	0.91[ASN][1000 genomes]
rs6434275	0.91[ASN][1000 genomes]
rs6434276	0.91[ASN][1000 genomes]
rs6727073	0.91[ASN][1000 genomes]
rs72903543	0.87[ASN][1000 genomes]
rs72905541	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905544	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905582	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905599	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72907662	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7419883	0.91[ASN][1000 genomes]
rs7557622	0.95[ASN][1000 genomes]
rs7575702	0.91[ASN][1000 genomes]
rs7577484	0.91[ASN][1000 genomes]
rs7585851	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189144000-189155400	Weak transcription	Aorta	Aorta
2	chr2:189144200-189156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189145000-189154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:189145000-189155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:189146000-189150400	Weak transcription	Stomach Mucosa	stomach
6	chr2:189148400-189152800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189149200-189149800	Active TSS	K562	blood
8	chr2:189149400-189151200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:189149600-189150000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:189149600-189150000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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