Variant report

Variant	rs28712358
Chromosome Location	chr7:111864423-111864424
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111758810..111761177-chr7:111862385..111864737,2	K562	blood:
2	chr7:111863191..111864981-chr7:111865587..111867923,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1007587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10227934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	0.97[AFR][1000 genomes];1.00[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238838	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	1.00[ASN][1000 genomes]
rs10244575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	0.82[AFR][1000 genomes];0.80[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	0.88[AFR][1000 genomes];1.00[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	0.88[AFR][1000 genomes];1.00[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	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.82[AFR][1000 genomes];1.00[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	0.85[AFR][1000 genomes];1.00[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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	0.91[AFR][1000 genomes];1.00[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	0.84[AFR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	1.00[EUR][1000 genomes]
rs10278642	0.81[AFR][1000 genomes];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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	0.85[AFR][1000 genomes];1.00[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	0.86[AFR][1000 genomes];1.00[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	0.86[AFR][1000 genomes];1.00[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	0.80[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040726	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2214434	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729540	1.00[ASN][1000 genomes]
rs2729543	1.00[ASN][1000 genomes]
rs2729545	1.00[ASN][1000 genomes]
rs2729546	1.00[ASN][1000 genomes]
rs2729548	1.00[ASN][1000 genomes]
rs28402908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	0.80[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	0.80[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	0.81[AFR][1000 genomes];1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	0.97[AFR][1000 genomes];1.00[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	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730546	0.80[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	0.80[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]
rs6943924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.96[AFR][1000 genomes];1.00[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977379	1.00[ASN][1000 genomes]
rs726422	1.00[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	1.00[AFR][1000 genomes];1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
2	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:111848000-111866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:111848000-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:111848000-111866600	Weak transcription	Thymus	Thymus
11	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
13	chr7:111852000-111866200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:111853000-111873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:111853200-111865200	Weak transcription	Spleen	Spleen
16	chr7:111855200-111873200	Weak transcription	Esophagus	oesophagus
17	chr7:111855600-111869200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:111855800-111866600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:111855800-111869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:111856200-111866400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:111856400-111866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:111858000-111865200	Weak transcription	Aorta	Aorta
24	chr7:111858200-111865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:111860600-111864800	Weak transcription	Dnd41	blood
26	chr7:111861600-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:111861800-111870200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:111862000-111865800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:111862800-111866400	Weak transcription	NHEK	skin
30	chr7:111863000-111865400	Enhancers	Liver	Liver
31	chr7:111863000-111865400	Enhancers	Ovary	ovary
32	chr7:111863200-111864600	Enhancers	Fetal Lung	lung
33	chr7:111863200-111864600	Enhancers	Right Atrium	heart
34	chr7:111863200-111865000	Enhancers	HepG2	liver
35	chr7:111863600-111865200	Weak transcription	Lung	lung
36	chr7:111863600-111874200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:111863800-111864600	Weak transcription	Pancreas	Pancrea
38	chr7:111863800-111865200	Weak transcription	Gastric	stomach
39	chr7:111863800-111866200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:111863800-111869400	Weak transcription	Psoas Muscle	Psoas
41	chr7:111863800-111879000	Weak transcription	Fetal Intestine Small	intestine
42	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
43	chr7:111864000-111865200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:111864000-111866000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:111864000-111872600	Weak transcription	Right Ventricle	heart
46	chr7:111864000-111873200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:111864200-111867400	Weak transcription	Primary T cells from cord blood	blood
48	chr7:111864400-111864600	Enhancers	Primary T cells fromperipheralblood	blood

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