Variant report

Variant	rs4727769
Chromosome Location	chr7:112059213-112059214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
2	chr7:112055161..112057071-chr7:112058715..112061690,2	MCF-7	breast:
3	chr7:112054145..112057717-chr7:112058317..112061377,3	K562	blood:
4	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
5	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007587	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[ASN][1000 genomes]
rs10227934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	1.00[EUR][1000 genomes]
rs10238838	1.00[EUR][1000 genomes]
rs10238839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	1.00[EUR][1000 genomes]
rs10249330	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	1.00[EUR][1000 genomes]
rs10253360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257492	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	1.00[EUR][1000 genomes]
rs10276868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	1.00[EUR][1000 genomes]
rs10278642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159613	1.00[ASN][1000 genomes]
rs17159615	1.00[ASN][1000 genomes]
rs1989940	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040726	1.00[EUR][1000 genomes]
rs2214434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729540	1.00[ASN][1000 genomes]
rs28402908	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	1.00[ASN][1000 genomes]
rs4730534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730546	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965959	0.87[EUR][1000 genomes]
rs6973251	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726422	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886351	1.00[ASN][1000 genomes]
rs886352	1.00[ASN][1000 genomes]
rs9986709	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
3	chr7:112051800-112059800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:112051800-112060400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:112051800-112060400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:112052800-112059800	Weak transcription	HepG2	liver
7	chr7:112053800-112062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:112054000-112059800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:112055400-112060400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:112056000-112060400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:112056400-112059800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:112056400-112060200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:112056400-112061800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:112056400-112061800	Weak transcription	Thymus	Thymus
15	chr7:112056600-112060400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:112056600-112061800	Weak transcription	Fetal Thymus	thymus
17	chr7:112056800-112060200	Weak transcription	Osteobl	bone
18	chr7:112056800-112060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:112056800-112062400	Weak transcription	HUVEC	blood vessel
20	chr7:112057000-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:112057200-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:112057400-112061200	Weak transcription	Dnd41	blood
23	chr7:112058400-112059800	Weak transcription	Esophagus	oesophagus

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