Variant report

Variant	rs7839329
Chromosome Location	chr8:120657149-120657150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120657038..120658044-chr8:120719432..120720508,14	MCF-7	breast:
2	chr8:120657089..120657913-chr8:120780921..120781891,3	MCF-7	breast:
3	chr8:120657064..120658055-chr8:120780724..120781920,4	MCF-7	breast:
4	chr8:120657091..120657936-chr8:120719426..120720501,6	MCF-7	breast:
5	chr8:120647001..120647563-chr8:120656946..120657709,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11775668	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778951	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11786983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217893	0.82[CHB][hapmap]
rs4871419	0.83[EUR][1000 genomes]
rs4871420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871569	0.82[CHB][hapmap]
rs58361300	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59168593	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6469837	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6989212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996637	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6996969	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7014683	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7837894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840386	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs965301	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7839329	UTP23	cis	parietal	SCAN
rs7839329	DSCC1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120651800-120657400	Weak transcription	Placenta	Placenta
2	chr8:120651800-120667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:120652200-120657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:120652200-120657600	Enhancers	Brain Substantia Nigra	brain
5	chr8:120652600-120657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:120653400-120657800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:120654200-120658800	Enhancers	GM12878-XiMat	blood
8	chr8:120655000-120658600	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:120655000-120660400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:120655000-120660800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:120655200-120660600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:120655400-120657600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:120655600-120657400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120655800-120657200	Enhancers	Brain Anterior Caudate	brain
15	chr8:120656400-120657800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:120656400-120660400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:120656400-120660800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:120656600-120657200	Weak transcription	Primary B cells from cord blood	blood
19	chr8:120656600-120658600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:120656600-120658800	Weak transcription	Adipose Nuclei	Adipose
21	chr8:120656600-120659800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:120656600-120660200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:120656800-120657200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:120656800-120660000	Weak transcription	Primary monocytes fromperipheralblood	blood

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