Variant report

Variant	rs72624503
Chromosome Location	chr4:128547502-128547503
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128542891..128546821-chr4:128547313..128550133,5	K562	blood:
2	chr4:128547130..128549718-chr4:128550417..128553383,2	K562	blood:

Variant related genes	Relation type
ENSG00000164066	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10493145	0.95[EUR][1000 genomes]
rs10493146	1.00[EUR][1000 genomes]
rs11935472	0.95[EUR][1000 genomes]
rs1355927	0.90[EUR][1000 genomes]
rs1380155	0.90[EUR][1000 genomes]
rs1514313	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1514314	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1514315	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17012525	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17012586	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17012601	1.00[EUR][1000 genomes]
rs17012634	1.00[EUR][1000 genomes]
rs17012654	1.00[EUR][1000 genomes]
rs17012683	0.90[EUR][1000 genomes]
rs17012710	0.90[EUR][1000 genomes]
rs1841156	0.86[EUR][1000 genomes]
rs1841157	0.90[EUR][1000 genomes]
rs1903106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2007243	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2276980	1.00[EUR][1000 genomes]
rs2279071	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2391185	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28570426	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2893227	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35147318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35858752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4422427	0.90[EUR][1000 genomes]
rs4456965	0.86[EUR][1000 genomes]
rs4513584	0.81[EUR][1000 genomes]
rs4590052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56763029	1.00[EUR][1000 genomes]
rs56893530	0.81[EUR][1000 genomes]
rs57499646	0.81[EUR][1000 genomes]
rs58486324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60404814	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60553863	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60666303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60803593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60991172	0.93[ASN][1000 genomes]
rs72616920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72616924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616931	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616938	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616939	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616940	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616941	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616943	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616947	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616948	1.00[EUR][1000 genomes]
rs72616949	1.00[EUR][1000 genomes]
rs72616950	1.00[EUR][1000 genomes]
rs72616951	0.95[EUR][1000 genomes]
rs72616952	0.90[EUR][1000 genomes]
rs72616953	0.90[EUR][1000 genomes]
rs72616956	0.90[EUR][1000 genomes]
rs72616957	0.81[EUR][1000 genomes]
rs72616958	0.81[EUR][1000 genomes]
rs72616959	0.81[EUR][1000 genomes]
rs72616960	0.81[EUR][1000 genomes]
rs72616961	0.81[EUR][1000 genomes]
rs72621863	0.90[EUR][1000 genomes]
rs72621865	0.90[EUR][1000 genomes]
rs72621866	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72621867	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72621868	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72621869	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72621870	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72621871	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72621886	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72621891	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621892	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621893	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72621894	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621895	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621897	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621898	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621900	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72621901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72624504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72624505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7439365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1800085	chr4:128502675-128557864	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879918	chr4:128543742-128694288	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv879919	chr4:128543742-128697519	Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128545000-128547600	Active TSS	Fetal Brain Female	brain
2	chr4:128545000-128550600	Weak transcription	Esophagus	oesophagus
3	chr4:128545200-128552400	Weak transcription	Psoas Muscle	Psoas
4	chr4:128545600-128553400	Weak transcription	Fetal Brain Male	brain
5	chr4:128547000-128549000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:128547200-128548200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:128547200-128548200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:128547400-128547600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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