Variant report

Variant	rs60404814
Chromosome Location	chr4:128526522-128526523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128525866..128527137-chr4:128653218..128654151,10	K562	blood:
2	chr4:128526494..128527032-chr4:128651880..128652572,2	MCF-7	breast:
3	chr4:128525423..128527600-chr4:128653005..128654534,14	MCF-7	breast:
4	chr4:128526261..128527082-chr4:128709454..128710321,2	MCF-7	breast:

Extended variants
information (count: 108 )
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	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17012586	0.90[AMR][1000 genomes];1.00[EUR][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	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2007243	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2276980	1.00[EUR][1000 genomes]
rs2279071	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2391185	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28570426	0.95[EUR][1000 genomes]
rs2893227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35147318	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35858752	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4422427	0.90[EUR][1000 genomes]
rs4456965	0.86[EUR][1000 genomes]
rs4513584	0.81[EUR][1000 genomes]
rs4590052	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56763029	1.00[EUR][1000 genomes]
rs56893530	0.81[EUR][1000 genomes]
rs57499646	0.81[EUR][1000 genomes]
rs58486324	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60553863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60666303	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60803593	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60991172	0.91[ASN][1000 genomes]
rs72616920	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616921	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616922	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616923	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616924	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616925	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616926	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616927	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616928	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616929	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616930	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616931	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616932	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616935	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616938	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616939	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616940	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616941	1.00[EUR][1000 genomes]
rs72616942	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616943	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72616947	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	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72621891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72621894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621900	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621901	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621902	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72624503	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72624504	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72624505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7439365	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128525000-128530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:128526000-128526600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:128526000-128526600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:128526000-128526600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:128526200-128526600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:128526200-128526600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:128526200-128526600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:128526200-128526600	Active TSS	A549	lung
9	chr4:128526200-128526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:128526200-128530600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:128526400-128526600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:128526400-128526600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:128526400-128527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:128526400-128530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:128526400-128530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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