Variant report

Variant	rs7978218
Chromosome Location	chr12:8634846-8634847
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10734713	0.97[EUR][1000 genomes]
rs10770723	0.81[CEU][hapmap]
rs10770775	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10770776	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10770793	0.82[EUR][1000 genomes]
rs11045643	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11045652	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11045708	0.98[EUR][1000 genomes]
rs11045757	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11045810	0.82[EUR][1000 genomes]
rs12302854	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12304190	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12308954	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12322968	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12423976	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242889	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs4242890	0.87[CEU][hapmap]
rs4242891	0.95[EUR][1000 genomes]
rs4242892	0.97[EUR][1000 genomes]
rs4242893	0.98[EUR][1000 genomes]
rs4242895	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4255605	0.81[CEU][hapmap]
rs4258429	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264222	0.81[CEU][hapmap]
rs4268555	0.84[EUR][1000 genomes]
rs4296104	0.91[CEU][hapmap]
rs4303299	0.96[EUR][1000 genomes]
rs4329732	1.00[CEU][hapmap]
rs4334073	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs4402377	0.82[CEU][hapmap]
rs4427631	0.98[EUR][1000 genomes]
rs4445713	0.93[EUR][1000 genomes]
rs4447245	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4457803	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460883	0.98[EUR][1000 genomes]
rs4477485	0.83[EUR][1000 genomes]
rs4528410	0.81[CEU][hapmap]
rs4622339	0.83[CEU][hapmap]
rs4628756	0.81[CEU][hapmap]
rs4638374	0.81[CEU][hapmap]
rs4882949	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4882950	0.84[EUR][1000 genomes]
rs4882951	0.84[EUR][1000 genomes]
rs4883148	0.81[CEU][hapmap]
rs4883154	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs4883157	1.00[CEU][hapmap]
rs4883164	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6487135	0.81[CEU][hapmap]
rs6487136	0.81[CEU][hapmap]
rs7132871	0.83[EUR][1000 genomes]
rs7134303	0.84[CEU][hapmap];0.98[EUR][1000 genomes]
rs7302011	0.98[EUR][1000 genomes]
rs7309596	0.98[EUR][1000 genomes]
rs7311079	0.81[EUR][1000 genomes]
rs7312686	0.98[EUR][1000 genomes]
rs7312713	0.98[EUR][1000 genomes]
rs7315590	0.98[EUR][1000 genomes]
rs7315873	0.98[EUR][1000 genomes]
rs7962791	0.98[EUR][1000 genomes]
rs7963053	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7964875	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7976692	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976958	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7977465	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978179	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv557342	chr12:8599397-8774527	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv933050	chr12:8602789-8775989	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv518772	chr12:8615809-8667579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv518125	chr12:8615809-8671274	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1035270	chr12:8619562-8674062	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv933555	chr12:8627165-8775989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv933639	chr12:8627243-8775989	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv600	chr12:8631646-8645560	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7978218	CLEC6A	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8628000-8638200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:8628400-8637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:8634400-8636200	Enhancers	Fetal Thymus	thymus
4	chr12:8634400-8636600	Enhancers	Primary T cells from cord blood	blood

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