Variant report

Variant	rs72616920
Chromosome Location	chr4:128562315-128562316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128553241..128556204-chr4:128562261..128565320,4	K562	blood:
2	chr4:128561660..128563498-chr4:128564714..128566263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164066	Chromatin interaction

Extended variants
information (count: 113 )
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];0.87[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];0.90[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];0.87[ASN][1000 genomes]
rs2391185	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28570426	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2893227	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35147318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35858752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];0.90[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];0.98[ASN][1000 genomes]
rs60404814	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60553863	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60666303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60803593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60991172	0.90[ASN][1000 genomes]
rs72616921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72616923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72616924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616931	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72616937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72616938	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616939	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616940	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616941	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616943	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72616947	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][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];0.81[ASN][1000 genomes]
rs72621892	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72621893	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72621894	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621895	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621897	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621898	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621900	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72621901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72624503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72624504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72624505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7439365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
8	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
9	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
10	nsv879920	chr4:128554404-128694288	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128554600-128627400	Weak transcription	Pancreas	Pancrea
2	chr4:128554600-128644800	Weak transcription	Lung	lung
3	chr4:128554800-128562400	Weak transcription	Aorta	Aorta
4	chr4:128554800-128562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:128554800-128564600	Weak transcription	Left Ventricle	heart
6	chr4:128554800-128564800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:128554800-128564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:128554800-128565000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:128554800-128566200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:128554800-128596600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:128554800-128604400	Weak transcription	Right Ventricle	heart
12	chr4:128555000-128564800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:128555000-128564800	Weak transcription	Fetal Kidney	kidney
14	chr4:128555000-128566200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:128555000-128566200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:128555000-128566200	Weak transcription	Fetal Stomach	stomach
17	chr4:128555000-128568200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:128555000-128570000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:128555000-128579400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:128555000-128608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:128555200-128564200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:128555200-128564800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:128555200-128564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:128555200-128564800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:128555200-128564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:128555200-128564800	Weak transcription	Fetal Intestine Large	intestine
27	chr4:128555200-128564800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:128555200-128565000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:128555200-128565000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:128555200-128569800	Weak transcription	Fetal Heart	heart
31	chr4:128555200-128577000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:128555200-128577000	Weak transcription	A549	lung
33	chr4:128555200-128577200	Weak transcription	HepG2	liver
34	chr4:128555200-128577400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:128555200-128578600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:128555200-128586000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:128555200-128587400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:128555400-128564800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:128555400-128565000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:128555400-128567800	Weak transcription	NHEK	skin
41	chr4:128555600-128562600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:128555600-128564800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:128555600-128564800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:128555600-128577200	Weak transcription	K562	blood
45	chr4:128555600-128627600	Weak transcription	Brain Angular Gyrus	brain
46	chr4:128555800-128562400	Weak transcription	HSMM	muscle
47	chr4:128555800-128564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:128555800-128565000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:128556000-128564800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:128556200-128562400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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