Variant report

Variant	rs10878722
Chromosome Location	chr12:68383829-68383830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10735943	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10748092	0.89[ASN][1000 genomes]
rs10784660	0.87[ASN][1000 genomes]
rs10784661	0.87[ASN][1000 genomes]
rs10784662	0.87[ASN][1000 genomes]
rs10784663	0.85[LWK][hapmap];0.86[MKK][hapmap];0.83[YRI][hapmap]
rs10784664	0.96[ASN][1000 genomes]
rs10878705	0.81[AFR][1000 genomes]
rs10878708	0.87[ASN][1000 genomes]
rs10878709	0.87[ASN][1000 genomes]
rs10878710	0.87[ASN][1000 genomes]
rs10878711	0.88[ASN][1000 genomes]
rs10878717	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11176970	0.87[ASN][1000 genomes]
rs11176971	0.87[ASN][1000 genomes]
rs11176976	0.89[ASN][1000 genomes]
rs11176977	0.89[ASN][1000 genomes]
rs1548650	0.89[ASN][1000 genomes]
rs1548651	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1548652	0.89[ASN][1000 genomes]
rs1548653	0.89[ASN][1000 genomes]
rs1860007	0.89[ASN][1000 genomes]
rs1905452	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2097999	0.90[ASN][1000 genomes]
rs2190735	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2839995	0.89[ASN][1000 genomes]
rs2870964	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4141136	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4913386	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6581784	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7310108	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7312407	0.94[ASW][hapmap];0.86[YRI][hapmap]
rs7954182	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7959275	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7962230	0.89[ASN][1000 genomes]
rs7965959	0.87[ASN][1000 genomes]
rs7979547	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7980416	0.83[ASW][hapmap];0.82[YRI][hapmap]

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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv975510	chr12:68382193-68385232	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv975509	chr12:68382193-68405026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10878722	MON2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68382200-68384400	Flanking Active TSS	GM12878-XiMat	blood
2	chr12:68382800-68384200	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr12:68382800-68384400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:68382800-68384400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:68383000-68384000	Active TSS	Duodenum Mucosa	Duodenum
6	chr12:68383000-68384200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:68383000-68385400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:68383200-68384000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:68383200-68384000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr12:68383200-68384000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:68383400-68384000	Flanking Active TSS	Fetal Thymus	thymus
12	chr12:68383600-68384000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:68383600-68384800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:68383800-68384200	Active TSS	Primary T cells fromperipheralblood	blood
15	chr12:68383800-68384200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:68383800-68384200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr12:68383800-68384400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:68383800-68384800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:68383800-68384800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:68383800-68385600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:68383800-68386600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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