Variant report

Variant	rs10248923
Chromosome Location	chr7:111899946-111899947
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	chr7:111897692..111901157-chr7:111901324..111906297,5	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1007587	1.00[EUR][1000 genomes]
rs1014725	1.00[EUR][1000 genomes]
rs10215841	0.86[EUR][1000 genomes]
rs10225540	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10227934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229525	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229822	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229978	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230608	1.00[EUR][1000 genomes]
rs10232364	1.00[EUR][1000 genomes]
rs10232380	1.00[EUR][1000 genomes]
rs10234035	1.00[EUR][1000 genomes]
rs10234996	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235364	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238838	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238839	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10239076	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10244575	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246054	1.00[EUR][1000 genomes]
rs10249330	1.00[EUR][1000 genomes]
rs10249953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251712	1.00[EUR][1000 genomes]
rs10252768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254160	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10257492	1.00[EUR][1000 genomes]
rs10257831	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257850	0.86[EUR][1000 genomes]
rs10258413	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259763	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263624	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264118	1.00[EUR][1000 genomes]
rs10264797	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10266828	1.00[EUR][1000 genomes]
rs10269074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10273461	1.00[EUR][1000 genomes]
rs10275709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276062	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276695	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276868	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276907	1.00[EUR][1000 genomes]
rs10277444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278642	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278883	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10280408	1.00[EUR][1000 genomes]
rs10487289	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12333548	1.00[EUR][1000 genomes]
rs13437769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437855	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438058	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438257	1.00[EUR][1000 genomes]
rs17159423	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159432	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159440	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159444	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159475	1.00[EUR][1000 genomes]
rs17159531	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159611	1.00[EUR][1000 genomes]
rs1989940	0.87[EUR][1000 genomes]
rs2040726	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214434	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396525	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396534	1.00[EUR][1000 genomes]
rs2396535	1.00[EUR][1000 genomes]
rs28402908	1.00[EUR][1000 genomes]
rs28407071	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28490504	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516940	1.00[EUR][1000 genomes]
rs28563007	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28566952	1.00[EUR][1000 genomes]
rs28594984	1.00[EUR][1000 genomes]
rs28602472	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28654705	1.00[EUR][1000 genomes]
rs28712358	1.00[EUR][1000 genomes]
rs28718033	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28797808	1.00[EUR][1000 genomes]
rs4321927	0.86[EUR][1000 genomes]
rs4392819	1.00[EUR][1000 genomes]
rs4727767	1.00[EUR][1000 genomes]
rs4727768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727769	1.00[EUR][1000 genomes]
rs4730514	1.00[EUR][1000 genomes]
rs4730515	1.00[EUR][1000 genomes]
rs4730521	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730525	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730526	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730527	1.00[EUR][1000 genomes]
rs4730528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730530	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730531	0.93[AMR][1000 genomes]
rs4730534	1.00[EUR][1000 genomes]
rs4730535	1.00[EUR][1000 genomes]
rs4730537	1.00[EUR][1000 genomes]
rs4730538	1.00[EUR][1000 genomes]
rs4730545	0.86[EUR][1000 genomes]
rs4730546	0.86[EUR][1000 genomes]
rs57771476	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58514081	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60046006	0.86[EUR][1000 genomes]
rs60677549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943924	0.87[EUR][1000 genomes]
rs6948649	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950339	1.00[EUR][1000 genomes]
rs6950367	1.00[EUR][1000 genomes]
rs6954131	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965959	0.87[EUR][1000 genomes]
rs6973251	0.87[EUR][1000 genomes]
rs6975374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977315	1.00[EUR][1000 genomes]
rs726422	1.00[EUR][1000 genomes]
rs73424453	1.00[EUR][1000 genomes]
rs7783041	1.00[EUR][1000 genomes]
rs9986709	1.00[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
2	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
3	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:111892600-111901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:111894200-111901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:111894600-111900800	Weak transcription	Fetal Kidney	kidney
10	chr7:111894600-111903000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:111894600-111905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:111895000-111903200	Weak transcription	Gastric	stomach
13	chr7:111895000-111903400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:111895600-111905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:111896000-111900600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:111896000-111900800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:111896000-111900800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:111896000-111901000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:111896000-111901000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:111896000-111901000	Weak transcription	Brain Anterior Caudate	brain
21	chr7:111896000-111901800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:111896000-111913000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:111896200-111900600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:111896200-111900800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:111896200-111901000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:111896200-111901600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:111896400-111901200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:111896800-111922200	Weak transcription	Pancreas	Pancrea
29	chr7:111897400-111902400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:111897600-111903200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:111897600-111908000	Weak transcription	HepG2	liver
32	chr7:111897800-111903000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:111899800-111900000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr7:111899800-111900000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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