Variant report

Variant	rs10225540
Chromosome Location	chr7:111913312-111913313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111911985..111913618-chr7:111915541..111918421,2	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10227934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	1.00[EUR][1000 genomes]
rs10238838	1.00[EUR][1000 genomes]
rs10238839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	1.00[ASN][1000 genomes]
rs10244575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249330	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10253360	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276868	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159613	1.00[ASN][1000 genomes]
rs17159615	1.00[ASN][1000 genomes]
rs1989940	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040726	1.00[EUR][1000 genomes]
rs2214434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	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	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730546	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977379	1.00[ASN][1000 genomes]
rs726422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	0.83[AFR][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	0.85[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:111896800-111922200	Weak transcription	Pancreas	Pancrea
3	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:111903800-111916000	Weak transcription	Small Intestine	intestine
5	chr7:111903800-111917000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:111903800-111926000	Weak transcription	Psoas Muscle	Psoas
7	chr7:111905400-111926000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:111906600-111915200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:111907200-111915600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:111907200-111922400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:111907400-111928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:111908200-111916800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:111908800-111914000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:111910200-111914800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:111911400-111914000	Weak transcription	Brain Substantia Nigra	brain
16	chr7:111911800-111915200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:111913000-111913400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:111913000-111913400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:111913000-111913400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:111913000-111913400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:111913000-111913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:111913000-111913400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:111913000-111913400	Enhancers	Esophagus	oesophagus
24	chr7:111913000-111913400	Enhancers	Lung	lung
25	chr7:111913000-111913600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:111913000-111913600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:111913000-111913600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:111913000-111913600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:111913000-111913600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:111913000-111913600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:111913000-111913600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:111913000-111913800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:111913000-111913800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:111913000-111914000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:111913200-111913400	Enhancers	Brain Anterior Caudate	brain
36	chr7:111913200-111913400	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:111913200-111913400	Enhancers	Brain Hippocampus Middle	brain
38	chr7:111913200-111913400	Enhancers	Stomach Mucosa	stomach
39	chr7:111913200-111913600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:111913200-111913600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:111913200-111913600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:111913200-111913600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:111913200-111913600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:111913200-111913600	Enhancers	Ovary	ovary
45	chr7:111913200-111913800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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