Variant report

Variant	rs8050651
Chromosome Location	chr16:71881444-71881445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
2	chr16:71841032..71844957-chr16:71878188..71881982,18	MCF-7	breast:
3	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
4	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
5	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
6	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
7	chr16:71878378..71882676-chr16:71918678..71922110,3	K562	blood:

Variant related genes	Relation type
ENSG00000261765	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000040199	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11075908	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075911	0.85[EUR][1000 genomes]
rs11648353	0.84[EUR][1000 genomes]
rs11648530	0.85[EUR][1000 genomes]
rs11649672	0.91[EUR][1000 genomes]
rs12102548	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12444829	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12447045	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12449139	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12599192	0.88[EUR][1000 genomes]
rs12921084	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926041	0.88[EUR][1000 genomes]
rs12926300	0.88[EUR][1000 genomes]
rs12930744	0.84[EUR][1000 genomes]
rs12935795	0.84[EUR][1000 genomes]
rs13329779	0.94[EUR][1000 genomes]
rs1834034	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1834035	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1981874	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2008675	0.82[EUR][1000 genomes]
rs2018384	0.91[EUR][1000 genomes]
rs2288029	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335709	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2335710	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335711	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335712	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335713	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335714	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335715	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28697038	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2878492	0.85[EUR][1000 genomes]
rs3794692	0.92[EUR][1000 genomes]
rs4788446	0.84[EUR][1000 genomes]
rs4788447	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788449	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788450	0.88[YRI][hapmap]
rs4788562	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4788563	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788564	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788566	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788570	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788571	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4788573	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788576	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4788579	0.88[YRI][hapmap]
rs4788581	0.91[EUR][1000 genomes]
rs4788582	0.86[EUR][1000 genomes]
rs4788584	0.85[EUR][1000 genomes]
rs4788585	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs62053803	0.85[EUR][1000 genomes]
rs6499542	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499545	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499551	0.93[EUR][1000 genomes]
rs6499552	0.94[EUR][1000 genomes]
rs7184437	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7184486	0.92[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7187129	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7193731	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7204708	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7205154	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8044342	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046859	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8050488	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8051038	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8054111	0.82[EUR][1000 genomes]
rs8054175	0.82[EUR][1000 genomes]
rs8054403	0.81[EUR][1000 genomes]
rs8057124	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs8058118	0.92[EUR][1000 genomes]
rs8059053	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8062946	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8063324	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8063403	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9302631	0.94[EUR][1000 genomes]
rs9302632	0.93[EUR][1000 genomes]
rs9806882	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9806905	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9888748	0.84[EUR][1000 genomes]
rs9889011	0.84[EUR][1000 genomes]
rs9921412	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9932922	0.89[EUR][1000 genomes]
rs9934803	0.87[EUR][1000 genomes]
rs9934812	0.87[EUR][1000 genomes]
rs9937936	0.94[EUR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71880400-71881600	Flanking Active TSS	Dnd41	blood
2	chr16:71880600-71881600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr16:71880600-71881600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr16:71880600-71881600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:71880600-71881800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:71880800-71882600	Weak transcription	Aorta	Aorta
7	chr16:71880800-71882600	Weak transcription	Esophagus	oesophagus
8	chr16:71880800-71882600	Weak transcription	Left Ventricle	heart
9	chr16:71880800-71882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:71881000-71881600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:71881000-71881600	Enhancers	Primary B cells from peripheral blood	blood
12	chr16:71881000-71881600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:71881000-71881600	Enhancers	Fetal Heart	heart
14	chr16:71881000-71881800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr16:71881000-71881800	Enhancers	Brain Anterior Caudate	brain
16	chr16:71881000-71882000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:71881000-71882000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:71881000-71882000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:71881000-71882000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:71881000-71882200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:71881000-71882600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr16:71881200-71881600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr16:71881200-71881600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr16:71881200-71881600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr16:71881200-71881600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:71881200-71881600	Enhancers	Adipose Nuclei	Adipose
28	chr16:71881200-71881600	Enhancers	Brain Cingulate Gyrus	brain
29	chr16:71881200-71881600	Enhancers	Brain Germinal Matrix	brain
30	chr16:71881200-71881600	Enhancers	Brain Hippocampus Middle	brain
31	chr16:71881200-71881600	Enhancers	Fetal Brain Male	brain
32	chr16:71881200-71881600	Enhancers	Fetal Intestine Large	intestine
33	chr16:71881200-71881600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr16:71881200-71881600	Weak transcription	Fetal Thymus	thymus
35	chr16:71881200-71881600	Active TSS	GM12878-XiMat	blood
36	chr16:71881200-71881600	Enhancers	NHLF	lung
37	chr16:71881200-71881800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:71881200-71881800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:71881200-71881800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:71881200-71881800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr16:71881200-71881800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:71881200-71881800	Enhancers	Liver	Liver
43	chr16:71881200-71881800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:71881200-71881800	Weak transcription	Fetal Muscle Leg	muscle
45	chr16:71881200-71881800	Weak transcription	Placenta	Placenta
46	chr16:71881200-71881800	Weak transcription	Thymus	Thymus
47	chr16:71881200-71881800	Enhancers	A549	lung
48	chr16:71881200-71881800	Weak transcription	NHDF-Ad	bronchial
49	chr16:71881200-71882000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:71881200-71882000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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