Variant report

Variant	rs1320315
Chromosome Location	chr6:71666146-71666147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:71416313..71416967-chr6:71665219..71666338,4	MCF-7	breast:
2	chr6:71415810..71416633-chr6:71665559..71666663,3	MCF-7	breast:
3	chr6:71594169..71594842-chr6:71665262..71666233,2	MCF-7	breast:
4	chr6:71230031..71231237-chr6:71665008..71666316,7	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10945275	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12212650	0.88[ASN][1000 genomes]
rs2255286	0.94[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2347629	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs2460691	0.84[CHB][hapmap];0.81[CHD][hapmap]
rs2474918	0.84[CHB][hapmap]
rs2504735	0.90[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap]
rs4400179	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4707868	0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs4707869	0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap]
rs4707871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473861	0.91[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs582908	0.95[CEU][hapmap];0.94[CHB][hapmap]
rs6900011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910674	0.90[AMR][1000 genomes]
rs6914786	1.00[ASN][1000 genomes]
rs6922893	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap]
rs6933662	0.85[AMR][1000 genomes]
rs7449748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7749568	0.81[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7758130	0.85[AMR][1000 genomes]
rs9294882	0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap]
rs9342802	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9354957	0.91[AMR][1000 genomes]
rs9364120	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886148	chr6:71623253-71694742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3339485	chr6:71665256-71667804	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71663600-71667000	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:71663800-71667200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:71663800-71667600	Active TSS	Brain Anterior Caudate	brain
4	chr6:71664200-71667600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:71664600-71667000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr6:71664600-71667400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:71664800-71666800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr6:71664800-71667200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:71664800-71667400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:71664800-71667400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:71664800-71667800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:71665000-71666200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:71665000-71667000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:71665000-71667000	Active TSS	Fetal Brain Female	brain
15	chr6:71665000-71667400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:71665000-71667600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:71665000-71667600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:71665200-71666200	Bivalent/Poised TSS	Left Ventricle	heart
19	chr6:71665200-71666200	Bivalent/Poised TSS	Thymus	Thymus
20	chr6:71665200-71666400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:71665200-71666400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:71665200-71666400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:71665200-71666400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:71665200-71666400	Flanking Active TSS	Right Ventricle	heart
25	chr6:71665200-71666400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr6:71665200-71666400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr6:71665200-71666400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
28	chr6:71665200-71666800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:71665200-71666800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:71665200-71666800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr6:71665200-71666800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:71665200-71667000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
36	chr6:71665200-71667200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:71665200-71667200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:71665200-71667200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr6:71665200-71667200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:71665200-71667200	Flanking Active TSS	Pancreas	Pancrea
43	chr6:71665200-71667200	Bivalent/Poised TSS	HSMM	muscle
44	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:71665200-71667400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:71665200-71667400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr6:71665200-71667400	Active TSS	Brain Angular Gyrus	brain
50	chr6:71665200-71667400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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