Variant report

Variant	rs72616948
Chromosome Location	chr4:128697686-128697687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128697060..128698600-chr4:128725159..128726803,2	K562	blood:
2	chr4:128697244..128699961-chr4:128704246..128706827,2	MCF-7	breast:
3	chr4:128696482..128698537-chr4:128884403..128886306,2	K562	blood:
4	chr4:128695077..128697905-chr4:128698575..128703396,7	K562	blood:

Variant related genes	Relation type
ENSG00000164073	Chromatin interaction
ENSG00000164070	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10493145	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493146	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493148	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11098941	1.00[AFR][1000 genomes]
rs11935472	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355927	0.90[EUR][1000 genomes]
rs1380155	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1514313	0.90[EUR][1000 genomes]
rs1514314	0.90[EUR][1000 genomes]
rs1514315	0.90[EUR][1000 genomes]
rs16997978	0.83[ASN][1000 genomes]
rs17012525	0.91[EUR][1000 genomes]
rs17012586	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17012601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17012634	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012654	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012683	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012687	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012695	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012703	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012708	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17012710	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012727	0.83[ASN][1000 genomes]
rs17012743	0.81[ASN][1000 genomes]
rs17012747	0.81[ASN][1000 genomes]
rs17012750	0.81[ASN][1000 genomes]
rs1841156	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1841157	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1903106	1.00[EUR][1000 genomes]
rs2007243	0.90[EUR][1000 genomes]
rs2276980	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279071	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2391185	1.00[EUR][1000 genomes]
rs28570426	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893227	1.00[EUR][1000 genomes]
rs35147318	1.00[EUR][1000 genomes]
rs35858752	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4422427	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4456965	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4508904	0.83[ASN][1000 genomes]
rs4513584	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4590052	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4607232	0.81[ASN][1000 genomes]
rs4618331	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56250604	0.83[ASN][1000 genomes]
rs56763029	1.00[EUR][1000 genomes]
rs56893530	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57499646	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57561160	1.00[AFR][1000 genomes]
rs57645489	0.81[ASN][1000 genomes]
rs58486324	1.00[EUR][1000 genomes]
rs60279389	0.81[ASN][1000 genomes]
rs60404814	1.00[EUR][1000 genomes]
rs60553863	1.00[EUR][1000 genomes]
rs60666303	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60803593	1.00[EUR][1000 genomes]
rs6820138	1.00[AFR][1000 genomes]
rs6850549	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6850726	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72616920	1.00[EUR][1000 genomes]
rs72616921	1.00[EUR][1000 genomes]
rs72616922	1.00[EUR][1000 genomes]
rs72616923	1.00[EUR][1000 genomes]
rs72616924	1.00[EUR][1000 genomes]
rs72616925	1.00[EUR][1000 genomes]
rs72616926	1.00[EUR][1000 genomes]
rs72616927	1.00[EUR][1000 genomes]
rs72616928	1.00[EUR][1000 genomes]
rs72616929	1.00[EUR][1000 genomes]
rs72616930	1.00[EUR][1000 genomes]
rs72616931	1.00[EUR][1000 genomes]
rs72616932	1.00[EUR][1000 genomes]
rs72616933	1.00[EUR][1000 genomes]
rs72616934	1.00[EUR][1000 genomes]
rs72616935	1.00[EUR][1000 genomes]
rs72616936	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616937	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616938	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616939	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616940	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616941	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616942	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616943	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616947	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616949	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616950	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616951	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616952	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616953	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616954	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72616955	0.83[ASN][1000 genomes]
rs72616956	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616957	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616958	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616959	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616960	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616961	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616963	0.83[ASN][1000 genomes]
rs72621863	0.90[EUR][1000 genomes]
rs72621865	0.90[EUR][1000 genomes]
rs72621866	0.90[EUR][1000 genomes]
rs72621867	0.90[EUR][1000 genomes]
rs72621868	0.90[EUR][1000 genomes]
rs72621869	0.90[EUR][1000 genomes]
rs72621870	0.82[EUR][1000 genomes]
rs72621871	0.90[EUR][1000 genomes]
rs72621886	1.00[EUR][1000 genomes]
rs72621891	1.00[EUR][1000 genomes]
rs72621892	1.00[EUR][1000 genomes]
rs72621893	1.00[EUR][1000 genomes]
rs72621894	1.00[EUR][1000 genomes]
rs72621895	1.00[EUR][1000 genomes]
rs72621896	1.00[EUR][1000 genomes]
rs72621897	1.00[EUR][1000 genomes]
rs72621898	1.00[EUR][1000 genomes]
rs72621899	1.00[EUR][1000 genomes]
rs72621900	1.00[EUR][1000 genomes]
rs72621901	1.00[EUR][1000 genomes]
rs72621902	1.00[EUR][1000 genomes]
rs72624503	1.00[EUR][1000 genomes]
rs72624504	1.00[EUR][1000 genomes]
rs72624505	1.00[EUR][1000 genomes]
rs7439365	1.00[EUR][1000 genomes]
rs7664937	1.00[AFR][1000 genomes]
rs7673882	1.00[AFR][1000 genomes]
rs7684815	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7687675	1.00[AFR][1000 genomes]
rs9942180	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	nsv879921	chr4:128554404-128766074	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv1792152	chr4:128585215-128752829	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv830057	chr4:128591288-128788777	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv879926	chr4:128652227-128766074	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv879927	chr4:128668850-128766074	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv437935	chr4:128689936-128703950	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128693600-128702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:128696800-128699400	Enhancers	GM12878-XiMat	blood
3	chr4:128697200-128698600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:128697400-128698000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:128697600-128698000	Enhancers	HMEC	breast
6	chr4:128697600-128698800	Weak transcription	K562	blood
7	chr4:128697600-128699400	Enhancers	HepG2	liver
8	chr4:128697600-128701800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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