Variant report

Variant	rs7569991
Chromosome Location	chr2:181975252-181975253
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10171108	1.00[JPT][hapmap]
rs10171998	1.00[JPT][hapmap]
rs10187842	1.00[JPT][hapmap]
rs10930950	1.00[JPT][hapmap]
rs11891215	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11893821	0.89[EUR][1000 genomes]
rs12621277	1.00[JPT][hapmap]
rs12989967	1.00[JPT][hapmap]
rs12999974	0.89[EUR][1000 genomes]
rs13011751	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13012524	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13020845	0.85[ASW][hapmap];0.83[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13025711	0.86[EUR][1000 genomes]
rs13029368	1.00[JPT][hapmap]
rs13033467	0.88[EUR][1000 genomes]
rs34601234	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34714467	0.89[EUR][1000 genomes]
rs35049898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35323141	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35543145	0.89[EUR][1000 genomes]
rs4346343	0.86[JPT][hapmap]
rs4366861	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs4510177	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4595925	1.00[JPT][hapmap];0.86[MEX][hapmap]
rs4667005	0.86[MEX][hapmap]
rs4667008	0.86[JPT][hapmap]
rs4990275	1.00[JPT][hapmap]
rs55664819	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55900432	0.89[EUR][1000 genomes]
rs55954384	0.89[EUR][1000 genomes]
rs56169464	0.86[EUR][1000 genomes]
rs59395276	0.86[EUR][1000 genomes]
rs62178846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433878	1.00[JPT][hapmap]
rs6433883	1.00[JPT][hapmap]
rs6433892	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433895	0.86[EUR][1000 genomes]
rs6704750	1.00[JPT][hapmap]
rs6706397	0.80[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6706696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6710650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731268	1.00[JPT][hapmap]
rs6744130	1.00[JPT][hapmap];0.86[MEX][hapmap]
rs6745190	1.00[JPT][hapmap]
rs6746347	0.89[EUR][1000 genomes]
rs6759865	0.88[EUR][1000 genomes]
rs7371639	1.00[JPT][hapmap]
rs7558428	0.89[EUR][1000 genomes]
rs7559803	1.00[JPT][hapmap];0.86[MEX][hapmap]
rs7566146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7566256	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7566434	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7580796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592486	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7598960	0.89[EUR][1000 genomes]
rs9808318	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181972400-181976400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:181973800-181985000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:181974000-181985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:181974200-181980200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:181974600-181980800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:181975000-181975800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:181975200-181975400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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