Variant report

Variant	rs12191111
Chromosome Location	chr6:164407297-164407298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163745999..163746681-chr6:164406770..164407469,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10484512	0.80[EUR][1000 genomes]
rs10484513	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10484515	0.81[ASN][1000 genomes]
rs10945939	0.81[ASN][1000 genomes]
rs10945940	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10945941	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10945942	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10945944	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10945945	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1545107	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16895846	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1756	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34021940	0.81[ASN][1000 genomes]
rs34091550	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34413611	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34561573	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34727935	0.80[ASN][1000 genomes]
rs34994154	0.88[ASN][1000 genomes]
rs35668088	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4499903	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709030	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709031	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709799	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4709800	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4709802	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4709803	0.87[ASN][1000 genomes]
rs4709804	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473823	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs491901	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs551475	0.89[EUR][1000 genomes]
rs616299	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs617616	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62435513	0.81[ASN][1000 genomes]
rs62435541	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs634032	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs656371	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs680187	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs717822	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7451221	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751193	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9356176	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9364711	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830858	chr6:164296054-164455743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12191111	MAP3K4	cis	cerebellum	SCAN
rs12191111	CNO	trans	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164393800-164413800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164405000-164407400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:164405600-164407800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:164405600-164409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:164405600-164412800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:164405800-164412400	Weak transcription	Brain Anterior Caudate	brain
7	chr6:164406200-164407800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:164406200-164407800	Enhancers	Pancreas	Pancrea
9	chr6:164406600-164407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:164406600-164408000	Enhancers	Stomach Smooth Muscle	stomach
11	chr6:164406600-164409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:164406800-164407400	Enhancers	Brain Hippocampus Middle	brain
13	chr6:164406800-164407600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:164406800-164407600	Enhancers	Right Ventricle	heart
15	chr6:164406800-164407800	Enhancers	Placenta	Placenta
16	chr6:164406800-164407800	Enhancers	Ovary	ovary
17	chr6:164406800-164408400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:164407000-164407600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:164407000-164407600	Enhancers	Right Atrium	heart
20	chr6:164407000-164407800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:164407000-164407800	Enhancers	Gastric	stomach
22	chr6:164407000-164407800	Enhancers	Left Ventricle	heart
23	chr6:164407000-164409600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:164407000-164412400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:164407200-164407400	Flanking Active TSS	NH-A	brain
26	chr6:164407200-164407600	Enhancers	Lung	lung
27	chr6:164407200-164407800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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