Variant report

Variant	rs2600831
Chromosome Location	chr5:101606071-101606072
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10041806	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs10051525	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10053573	0.83[JPT][hapmap]
rs10055023	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs10062613	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs10065821	0.91[JPT][hapmap]
rs10069193	0.82[JPT][hapmap]
rs10069466	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10073052	0.83[JPT][hapmap]
rs10223273	0.91[JPT][hapmap]
rs10479216	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs1078338	0.83[AMR][1000 genomes]
rs11746217	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs1376894	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs1376898	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs1376910	0.91[JPT][hapmap]
rs1376911	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs1452057	0.91[JPT][hapmap]
rs1452059	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1452060	0.83[AMR][1000 genomes]
rs1542296	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs1545487	0.91[JPT][hapmap]
rs1545488	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs1562960	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs1562961	0.91[JPT][hapmap]
rs1597771	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs17273466	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs1823694	0.83[AMR][1000 genomes]
rs1901512	0.91[JPT][hapmap]
rs1901520	0.83[JPT][hapmap]
rs1901521	0.91[JPT][hapmap]
rs1901522	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs2060833	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs2084826	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs2123133	0.91[JPT][hapmap]
rs2123135	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs2400795	0.91[JPT][hapmap]
rs2400796	0.83[JPT][hapmap]
rs2400797	0.91[JPT][hapmap]
rs2400798	0.91[JPT][hapmap]
rs2400801	0.91[JPT][hapmap]
rs2548725	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2600826	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28532891	0.83[AMR][1000 genomes]
rs3096214	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3114660	0.86[JPT][hapmap]
rs3114661	0.96[CEU][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3114665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs384615	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs386464	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs404598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4085107	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs416332	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4703226	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs4703230	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs6596482	0.91[JPT][hapmap]
rs6596493	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6596495	0.91[JPT][hapmap]
rs6871070	0.91[JPT][hapmap]
rs6871966	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs6873738	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs6877722	0.91[JPT][hapmap]
rs6878190	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6884162	0.83[AMR][1000 genomes]
rs6885800	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs6890130	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs6893723	0.85[CEU][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs6895200	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs709369	0.83[JPT][hapmap]
rs709372	0.96[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7702418	0.83[AMR][1000 genomes]
rs7715217	0.84[CEU][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap]
rs7719316	0.87[CEU][hapmap];0.94[JPT][hapmap]
rs7721548	0.83[AMR][1000 genomes]
rs7722680	0.82[AMR][1000 genomes]
rs7731256	0.91[JPT][hapmap]
rs7732942	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs7733253	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs7734926	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7736579	0.91[JPT][hapmap]
rs7737204	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs841921	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs841923	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs841924	0.83[JPT][hapmap]
rs841925	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs841928	0.83[JPT][hapmap]
rs841931	0.83[JPT][hapmap]
rs841933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896545	0.83[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	esv3385694	chr5:101599102-101620704	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101604000-101606400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr5:101604200-101606600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:101604400-101606200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:101604400-101606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:101605600-101606200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:101605800-101606400	Strong transcription	Liver	Liver
7	chr5:101605800-101613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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