Variant report

Variant	rs9473120
Chromosome Location	chr6:12967106-12967107
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	chr6:12966482..12969474-chr6:12970571..12972855,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11755825	0.81[JPT][hapmap]
rs11757634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11961007	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11963982	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13207062	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4236091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4349811	0.81[AMR][1000 genomes]
rs4380742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711899	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4715016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715043	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4715048	0.81[AMR][1000 genomes]
rs6458568	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6899754	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6900619	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6901563	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6906890	0.81[JPT][hapmap]
rs6916268	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6920970	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7739717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743219	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7760857	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7774403	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7774775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296556	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9296580	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9463337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463363	0.88[AMR][1000 genomes]
rs9473113	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9473156	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9473188	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9473198	0.88[AMR][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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12959200-12968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:12961000-12968400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:12962800-12968000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:12963000-12967400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:12963200-12967800	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:12963400-12967800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:12963600-12967200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:12963600-12967600	Weak transcription	NHDF-Ad	bronchial
9	chr6:12963600-12969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:12963600-12971000	Weak transcription	HSMM	muscle
11	chr6:12963600-12971600	Weak transcription	Spleen	Spleen
12	chr6:12963600-12972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:12963600-12973000	Weak transcription	Pancreas	Pancrea
14	chr6:12963600-12974600	Weak transcription	Right Ventricle	heart
15	chr6:12964000-12967400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:12964000-12967800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:12964000-12968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:12964000-12968200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:12964000-12971400	Enhancers	Fetal Heart	heart
20	chr6:12964000-12988000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:12964200-12968000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:12964200-12968000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:12964200-12968400	Weak transcription	Fetal Lung	lung
24	chr6:12964800-12968000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:12964800-12968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:12964800-12969400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:12965200-12967800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:12965200-12968200	Weak transcription	Aorta	Aorta
29	chr6:12965200-12971000	Weak transcription	HUVEC	blood vessel
30	chr6:12966000-12968800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:12966200-12968000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:12966200-12968200	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:12966600-12967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:12966600-12972800	Weak transcription	Lung	lung
35	chr6:12966800-12967400	Weak transcription	Left Ventricle	heart
36	chr6:12966800-12975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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