Variant report

Variant	rs4402719
Chromosome Location	chr2:189137925-189137926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189131302..189133805-chr2:189136850..189139662,2	K562	blood:
2	chr2:189136881..189139630-chr2:189148262..189150658,2	K562	blood:
3	chr2:189134790..189138324-chr2:189139251..189142315,6	K562	blood:
4	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
5	chr2:189128910..189130678-chr2:189136126..189138896,2	K562	blood:
6	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:

Variant related genes	Relation type
ENSG00000200650	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10169317	0.81[ASN][1000 genomes]
rs10175259	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10180222	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199112	0.81[ASN][1000 genomes]
rs10206696	0.81[ASN][1000 genomes]
rs1036649	0.84[ASN][1000 genomes]
rs10804020	0.88[ASN][1000 genomes]
rs10931343	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10931344	0.85[ASN][1000 genomes]
rs10931356	0.82[ASN][1000 genomes]
rs11900558	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12464904	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12613615	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619361	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693487	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693489	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13008931	0.95[ASN][1000 genomes]
rs13014693	0.90[ASN][1000 genomes]
rs13420369	0.81[ASN][1000 genomes]
rs1898986	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34189381	0.83[ASN][1000 genomes]
rs35964306	0.90[ASN][1000 genomes]
rs4426503	0.95[ASN][1000 genomes]
rs4500907	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4516391	0.93[ASN][1000 genomes]
rs4591312	0.95[ASN][1000 genomes]
rs4610010	0.95[ASN][1000 genomes]
rs4641903	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4666759	0.87[ASN][1000 genomes]
rs4667215	0.95[ASN][1000 genomes]
rs4667221	0.83[ASN][1000 genomes]
rs59106803	0.87[ASN][1000 genomes]
rs62183206	0.87[ASN][1000 genomes]
rs6434269	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6711822	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6712056	0.95[ASN][1000 genomes]
rs6718999	0.81[ASN][1000 genomes]
rs6719273	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67211370	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6724867	0.82[ASN][1000 genomes]
rs6744150	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6744629	0.94[ASN][1000 genomes]
rs6759539	0.81[ASN][1000 genomes]
rs6759766	0.81[ASN][1000 genomes]
rs67790470	0.80[ASN][1000 genomes]
rs7425596	0.95[ASN][1000 genomes]
rs7566619	0.90[ASN][1000 genomes]
rs7574262	0.90[ASN][1000 genomes]
rs7582137	0.81[ASN][1000 genomes]
rs7585703	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586390	0.90[ASN][1000 genomes]
rs7593546	0.95[ASN][1000 genomes]
rs7598279	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7598785	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7599516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189131600-189140800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189137200-189140200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:189137600-189139800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:189137800-189138000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:189137800-189138000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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