Variant report

Variant	rs2171615
Chromosome Location	chr11:17252641-17252642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10741724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10766381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10766382	0.83[ASN][1000 genomes]
rs10832733	0.85[EUR][1000 genomes]
rs10832736	0.84[EUR][1000 genomes]
rs10832739	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10832743	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10832745	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832746	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832747	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832748	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832750	0.85[ASN][1000 genomes]
rs10832752	0.81[ASN][1000 genomes]
rs11024158	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024159	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024163	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024207	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024208	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024220	0.83[ASN][1000 genomes]
rs11024221	0.83[ASN][1000 genomes]
rs11024223	0.83[ASN][1000 genomes]
rs11024227	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024229	0.81[ASN][1000 genomes]
rs11024231	0.81[ASN][1000 genomes]
rs1125737	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11821773	0.84[EUR][1000 genomes]
rs12276859	0.83[ASN][1000 genomes]
rs12280930	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12286505	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1236309	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12801545	0.82[EUR][1000 genomes]
rs12804000	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1488933	0.83[ASN][1000 genomes]
rs1685932	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1979603	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1989405	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2052188	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214081	0.82[ASN][1000 genomes]
rs214082	0.82[ASN][1000 genomes]
rs214083	0.82[ASN][1000 genomes]
rs214084	0.82[ASN][1000 genomes]
rs214088	0.82[ASN][1000 genomes]
rs214092	0.82[ASN][1000 genomes]
rs214093	0.82[ASN][1000 genomes]
rs214094	0.81[ASN][1000 genomes]
rs214097	0.83[ASN][1000 genomes]
rs214099	0.81[ASN][1000 genomes]
rs214102	0.81[ASN][1000 genomes]
rs214900	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214901	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214906	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs214907	0.85[ASN][1000 genomes]
rs214909	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214910	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214911	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214912	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214913	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214914	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214915	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214916	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214917	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214918	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214919	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214920	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214921	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214922	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214923	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs214925	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214926	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214927	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214935	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214936	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214937	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214939	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs214940	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35933265	0.82[EUR][1000 genomes]
rs4508187	0.83[ASN][1000 genomes]
rs4509731	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs511119	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs512852	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs527810	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs536628	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs542274	0.88[AFR][1000 genomes]
rs545773	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs550667	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs553711	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs577207	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs589319	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59192183	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs594034	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs598946	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs603618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61357262	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615358	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs618331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61881888	0.86[EUR][1000 genomes]
rs620241	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs621246	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635802	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486352	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6486354	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486358	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs651513	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs656623	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs662711	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs667984	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs677540	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs680205	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7101686	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108315	0.83[ASN][1000 genomes]
rs7108316	0.88[ASN][1000 genomes]
rs7118006	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7118443	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7123301	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7128822	0.83[ASN][1000 genomes]
rs7342262	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7396382	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7396958	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7478986	0.84[EUR][1000 genomes]
rs7925692	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7935219	0.89[EUR][1000 genomes]
rs7937176	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7940253	0.88[ASN][1000 genomes]
rs7940418	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7946010	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7949699	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2171615	OR7E14P	cis	Nerve Tibial	GTEx
rs2171615	OR7E14P	cis	Esophagus Mucosa	GTEx
rs2171615	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17251600-17253200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:17251800-17252800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr11:17251800-17252800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:17251800-17253200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:17251800-17253400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:17251800-17253600	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:17252000-17253400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:17252000-17253600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr11:17252200-17253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:17252200-17253200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:17252200-17253400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:17252200-17253400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr11:17252200-17253400	Enhancers	Dnd41	blood
14	chr11:17252400-17252800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:17252600-17253200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:17252600-17253400	Flanking Active TSS	GM12878-XiMat	blood

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