Variant report

Variant	rs709372
Chromosome Location	chr5:101625154-101625155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038809	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10041507	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10041525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10041806	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10051525	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10053573	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10055023	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10057126	0.82[CEU][hapmap]
rs10057529	0.91[ASN][1000 genomes]
rs10057599	0.91[ASN][1000 genomes]
rs10062613	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10065821	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10069193	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10069466	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10073052	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10223273	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10479191	0.91[ASN][1000 genomes]
rs10479216	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1078338	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1117130	0.81[ASN][1000 genomes]
rs1118008	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11746217	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1376894	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1376898	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1376910	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1376911	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1452057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1452059	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452060	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1452065	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1542296	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1545487	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1545488	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1562960	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1562961	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1597771	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17273466	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1823694	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1875634	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1901512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1901520	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1901521	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1901522	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2004550	0.91[ASN][1000 genomes]
rs2004551	0.91[ASN][1000 genomes]
rs2010590	0.91[ASN][1000 genomes]
rs2060833	0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2060836	0.81[ASN][1000 genomes]
rs2060837	0.81[ASN][1000 genomes]
rs2084826	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2123133	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2123135	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2167586	0.81[ASN][1000 genomes]
rs2400795	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2400796	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2400797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2400798	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2400801	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2548725	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2600826	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2600831	0.96[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28532891	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2895806	0.91[ASN][1000 genomes]
rs3096214	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3114660	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3114661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114665	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs384615	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs386464	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs404598	0.96[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4085107	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs416332	0.80[EUR][1000 genomes]
rs4343814	0.91[ASN][1000 genomes]
rs4703226	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4703230	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4703232	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56358831	0.81[ASN][1000 genomes]
rs56881277	0.91[ASN][1000 genomes]
rs62372208	0.91[ASN][1000 genomes]
rs62372209	0.91[ASN][1000 genomes]
rs62372210	0.91[ASN][1000 genomes]
rs6596482	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6596493	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6596495	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6860720	0.81[ASN][1000 genomes]
rs6866255	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6871070	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6871966	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6873305	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6873738	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6877722	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878190	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878326	0.81[ASN][1000 genomes]
rs6881331	0.91[ASN][1000 genomes]
rs6882313	0.91[ASN][1000 genomes]
rs6884162	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6885800	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6890130	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6893391	0.81[ASN][1000 genomes]
rs6893723	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6895200	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6895407	0.91[ASN][1000 genomes]
rs709369	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs709371	0.91[ASN][1000 genomes]
rs7356647	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7701832	0.91[ASN][1000 genomes]
rs7702418	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7711687	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7715217	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7719316	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721084	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs7721548	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7722680	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7731256	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7731310	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7732942	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7733253	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7734926	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7736579	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7737204	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs841921	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841923	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841924	0.83[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs841925	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841927	0.91[ASN][1000 genomes]
rs841928	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs841929	0.91[ASN][1000 genomes]
rs841930	0.91[ASN][1000 genomes]
rs841931	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs841933	0.96[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs896544	0.91[ASN][1000 genomes]
rs896545	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs9285943	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs9327859	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9327860	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022551	chr5:101366177-101649643	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv882505	chr5:101397849-101652251	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028787	chr5:101432086-101718569	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv522882	chr5:101596633-101782930	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101613400-101629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:101619200-101630800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:101620600-101630600	Weak transcription	GM12878-XiMat	blood
4	chr5:101622800-101630200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:101624400-101625400	Enhancers	Liver	Liver
6	chr5:101624400-101625600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:101624400-101625800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:101624400-101625800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:101624400-101625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:101624400-101626000	Enhancers	Fetal Intestine Small	intestine
11	chr5:101624400-101631400	Weak transcription	Pancreas	Pancrea
12	chr5:101624600-101626800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:101624800-101625200	Flanking Active TSS	HepG2	liver

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