Variant report

Variant	rs72816959
Chromosome Location	chr5:180001389-180001390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:180000760..180002949-chr5:180003873..180005612,2	K562	blood:
2	chr5:180000027..180002613-chr5:180002639..180004210,2	MCF-7	breast:
3	chr5:180000649..180005755-chr5:180006610..180009607,4	K562	blood:

Variant related genes	Relation type
ENSG00000263759	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688275	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231520	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318449	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740192	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405546	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811134	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811138	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811140	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811143	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811145	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811158	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811160	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811161	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811164	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811166	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811168	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812928	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812934	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812935	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812937	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812939	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812941	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812944	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812945	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812946	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812949	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812957	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812960	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812965	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812966	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812969	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812971	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812973	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812978	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812980	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812983	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812984	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814954	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814958	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814971	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814974	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728141	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179950600-180004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:179970800-180006600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:179973800-180005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:179974400-180005800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:179975000-180005800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:179975600-180004600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:179976200-180007200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:179985000-180005600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:179985400-180005800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:179987200-180005800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:179987400-180006000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:179987600-180001400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:179987600-180005600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:179987800-180005200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:179988000-180005600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:179988400-180005400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:179988400-180005800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:179988400-180005800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:179988400-180005800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:179988600-180004600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:179988600-180005200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:179988800-180005400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:179988800-180005800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:179989000-180002400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179990600-180004600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:179990600-180005600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:179990800-180005400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:179991000-180002000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:179991000-180003600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:179991000-180005400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:179991000-180005800	Strong transcription	Primary B cells from cord blood	blood
32	chr5:179991000-180005800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:179991000-180005800	Strong transcription	Fetal Intestine Large	intestine
34	chr5:179991000-180006400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:179991200-180003200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:179991200-180003800	Strong transcription	Primary T cells from cord blood	blood
37	chr5:179991200-180005000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:179991200-180005400	Weak transcription	Stomach Mucosa	stomach
39	chr5:179991200-180005600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:179991200-180005800	Strong transcription	Dnd41	blood
41	chr5:179991200-180005800	Strong transcription	GM12878-XiMat	blood
42	chr5:179991400-180004600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:179991400-180005600	Strong transcription	Liver	Liver
44	chr5:179991600-180001400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:179991600-180001400	Strong transcription	Thymus	Thymus
46	chr5:179991600-180002200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:179991600-180005800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:179991600-180005800	Strong transcription	Fetal Thymus	thymus
49	chr5:179991600-180006400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:179991800-180003600	Strong transcription	Stomach Smooth Muscle	stomach

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