Variant report

Variant	rs7314211
Chromosome Location	chr12:117234524-117234525
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117229820..117232354-chr12:117233502..117235070,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10774888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850718	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850719	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850721	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850724	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12301988	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815898	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1603327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767457	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7313014	0.90[EUR][1000 genomes]
rs7314377	0.89[CEU][hapmap]
rs7969141	0.90[MEX][hapmap]
rs924079	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7314211	C12orf49	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117198200-117236600	Weak transcription	A549	lung
3	chr12:117221200-117236800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:117222000-117248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:117222200-117235400	Weak transcription	Thymus	Thymus
6	chr12:117222400-117236600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:117222400-117236800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:117222600-117236600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:117222600-117236600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:117222800-117236600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:117222800-117236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:117223600-117246200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:117225000-117236600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:117225000-117237600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:117225200-117236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:117225200-117236800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:117225600-117235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:117227400-117235400	Weak transcription	Dnd41	blood
21	chr12:117227600-117234800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:117228000-117235600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:117229000-117235600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:117232200-117235200	Weak transcription	Fetal Thymus	thymus
27	chr12:117232200-117236800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:117233000-117238000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:117233200-117234800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:117234000-117235000	Strong transcription	Brain Germinal Matrix	brain
31	chr12:117234000-117235400	Strong transcription	Fetal Brain Female	brain
32	chr12:117234000-117237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:117234400-117234600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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