Variant report

Variant	rs17365327
Chromosome Location	chr2:182165418-182165419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10175109	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10187534	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10195192	0.84[ASN][1000 genomes]
rs10199252	0.84[EUR][1000 genomes]
rs10206405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10439303	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10497577	0.83[EUR][1000 genomes]
rs10497579	0.84[ASN][1000 genomes]
rs10930965	0.84[EUR][1000 genomes]
rs10930966	0.84[EUR][1000 genomes]
rs12053408	0.85[ASN][1000 genomes]
rs12616514	0.85[ASN][1000 genomes]
rs12617083	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12618053	0.85[ASN][1000 genomes]
rs12619896	0.85[ASN][1000 genomes]
rs12621204	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622227	0.82[EUR][1000 genomes]
rs12623045	0.85[ASN][1000 genomes]
rs12623524	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12693274	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13339832	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13339833	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13339865	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384115	0.84[EUR][1000 genomes]
rs13387919	0.85[EUR][1000 genomes]
rs13390496	0.84[EUR][1000 genomes]
rs13390501	0.85[EUR][1000 genomes]
rs13390598	0.85[EUR][1000 genomes]
rs13393596	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13393709	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13400585	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13400592	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13400891	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13403977	0.85[EUR][1000 genomes]
rs13410482	0.90[ASN][1000 genomes]
rs13410543	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13410843	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13413108	0.85[EUR][1000 genomes]
rs13415095	0.85[ASN][1000 genomes]
rs13416416	0.86[EUR][1000 genomes]
rs13419105	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13426182	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13428910	0.82[ASN][1000 genomes]
rs1371615	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371622	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1371623	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1371624	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1371625	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1440048	0.85[ASN][1000 genomes]
rs1550401	0.85[ASN][1000 genomes]
rs17198661	0.85[ASN][1000 genomes]
rs17270826	0.85[ASN][1000 genomes]
rs17270854	0.85[ASN][1000 genomes]
rs17270861	0.85[ASN][1000 genomes]
rs17365362	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17365418	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17456058	0.83[EUR][1000 genomes]
rs17456106	0.86[EUR][1000 genomes]
rs17456148	0.85[EUR][1000 genomes]
rs17456211	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17456294	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1899036	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077783	0.85[EUR][1000 genomes]
rs2119148	0.83[EUR][1000 genomes]
rs2218160	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2368200	0.86[EUR][1000 genomes]
rs28716233	0.82[EUR][1000 genomes]
rs3926443	0.84[ASN][1000 genomes]
rs4144311	0.85[ASN][1000 genomes]
rs55646418	0.85[ASN][1000 genomes]
rs56303157	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57063898	0.86[EUR][1000 genomes]
rs57334172	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58997932	0.85[ASN][1000 genomes]
rs59591658	0.87[ASN][1000 genomes]
rs60444729	0.85[ASN][1000 genomes]
rs60689650	0.87[ASN][1000 genomes]
rs60899718	0.85[ASN][1000 genomes]
rs60903476	0.85[ASN][1000 genomes]
rs61235737	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61358146	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62180207	0.83[EUR][1000 genomes]
rs62180228	0.86[EUR][1000 genomes]
rs62180237	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62180238	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62180239	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62180241	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180244	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180245	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62180255	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62180256	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62180257	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62180259	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62182263	0.85[ASN][1000 genomes]
rs62182264	0.83[ASN][1000 genomes]
rs62182265	0.87[ASN][1000 genomes]
rs6433906	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433908	0.81[ASN][1000 genomes]
rs6433909	0.87[ASN][1000 genomes]
rs6704605	0.85[ASN][1000 genomes]
rs6716857	0.85[ASN][1000 genomes]
rs6717513	0.84[EUR][1000 genomes]
rs6717754	0.84[EUR][1000 genomes]
rs6728366	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6729353	0.84[EUR][1000 genomes]
rs6733437	0.85[ASN][1000 genomes]
rs6743422	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6743583	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6744081	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6757550	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6758852	0.84[ASN][1000 genomes]
rs720453	0.85[EUR][1000 genomes]
rs73036640	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036646	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557202	0.85[ASN][1000 genomes]
rs7563015	0.84[ASN][1000 genomes]
rs7564749	0.84[EUR][1000 genomes]
rs7564976	0.84[EUR][1000 genomes]
rs7602997	0.82[EUR][1000 genomes]
rs9288064	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9288065	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs959382	0.85[ASN][1000 genomes]
rs972605	0.84[EUR][1000 genomes]
rs976384	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9973857	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17365327	LOC100130691	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182164000-182167800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr2:182164200-182165800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:182164200-182166000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:182164200-182168000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:182164600-182165600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:182165000-182166200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:182165000-182166200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:182165200-182167400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:182165400-182165600	Active TSS	Primary T cells from cord blood	blood
10	chr2:182165400-182165600	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:182165400-182165600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr2:182165400-182165600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:182165400-182165600	Active TSS	Thymus	Thymus
14	chr2:182165400-182165800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:182165400-182166000	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:182165400-182166000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:182165400-182166200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:182165400-182166200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:182165400-182166200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr2:182165400-182166200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:182165400-182166200	Enhancers	Fetal Thymus	thymus
22	chr2:182165400-182166200	Flanking Active TSS	Dnd41	blood
23	chr2:182165400-182166400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:182165400-182168000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:182165400-182169800	Enhancers	Primary hematopoietic stem cells	blood

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