Variant report

Variant	rs16867395
Chromosome Location	chr2:182145142-182145143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10189949	0.91[ASN][1000 genomes]
rs12613489	0.81[EUR][1000 genomes]
rs12621029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623733	0.81[EUR][1000 genomes]
rs16823661	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16867388	0.87[EUR][1000 genomes]
rs16867390	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867391	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867392	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867393	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867394	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867398	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16867399	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16867403	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16867404	1.00[ASW][hapmap];0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs57709991	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58314357	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58869569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433905	0.92[ASN][1000 genomes]
rs7579986	0.87[EUR][1000 genomes];0.88[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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182138600-182145200	Weak transcription	HSMMtube	muscle
2	chr2:182141000-182145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:182141000-182145600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:182141200-182145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:182141200-182145200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:182141200-182145200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:182141200-182145600	Weak transcription	GM12878-XiMat	blood
8	chr2:182141200-182146600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:182141200-182146600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:182144000-182148000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:182144400-182146200	Enhancers	Primary T cells from cord blood	blood
12	chr2:182144600-182146600	Enhancers	Dnd41	blood
13	chr2:182144600-182147000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:182144800-182147000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:182144800-182147800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:182145000-182147000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:182145000-182147000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:182145000-182148400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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