Variant report

Variant	rs9930588
Chromosome Location	chr16:71721622-71721623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71709382..71710975-chr16:71720464..71722276,2	K562	blood:
2	chr16:71713691..71715529-chr16:71719681..71722397,3	MCF-7	breast:
3	chr16:71709605..71711105-chr16:71721502..71723632,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11075896	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334187	0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.97[AFR][1000 genomes]
rs13337162	0.91[AFR][1000 genomes]
rs13337224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.87[AFR][1000 genomes]
rs28436203	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681277	0.88[AFR][1000 genomes]
rs28712876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57187537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.87[AFR][1000 genomes]
rs58324033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	0.84[YRI][hapmap]
rs7191105	0.84[YRI][hapmap]
rs7196013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045394	1.00[YRI][hapmap]
rs8048170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063658	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302626	0.90[YRI][hapmap]
rs9302628	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921552	0.91[AFR][1000 genomes]
rs9923154	1.00[YRI][hapmap]
rs9924829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924862	0.91[AFR][1000 genomes]
rs9925371	0.88[AFR][1000 genomes]
rs9925712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.88[AFR][1000 genomes]
rs9927004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
3	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
5	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
10	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:71695000-71725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:71695200-71724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:71695200-71725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:71696400-71725200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:71703800-71723800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr16:71705000-71741600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:71705000-71756800	Weak transcription	Gastric	stomach
21	chr16:71705200-71732200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:71705400-71733000	Weak transcription	Pancreas	Pancrea
23	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:71707800-71723600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:71709600-71724000	Weak transcription	Fetal Kidney	kidney
26	chr16:71710400-71735800	Weak transcription	Right Ventricle	heart
27	chr16:71710600-71722600	Weak transcription	GM12878-XiMat	blood
28	chr16:71710600-71726600	Weak transcription	Fetal Brain Male	brain
29	chr16:71710600-71732200	Weak transcription	Thymus	Thymus
30	chr16:71710600-71741800	Weak transcription	Spleen	Spleen
31	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:71710600-71756800	Weak transcription	Lung	lung
34	chr16:71711000-71722800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:71711200-71756400	Weak transcription	K562	blood
36	chr16:71712400-71724800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:71712600-71723800	Weak transcription	Colonic Mucosa	Colon
38	chr16:71713200-71734800	Weak transcription	Placenta	Placenta
39	chr16:71713400-71722600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:71713400-71722600	Weak transcription	Left Ventricle	heart
41	chr16:71713400-71732200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:71713400-71739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr16:71713400-71741600	Weak transcription	NHLF	lung
44	chr16:71713600-71723600	Weak transcription	Brain Anterior Caudate	brain
45	chr16:71713600-71723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:71713800-71723800	Weak transcription	HUVEC	blood vessel
47	chr16:71714600-71724200	Weak transcription	Brain Substantia Nigra	brain
48	chr16:71714600-71733200	Weak transcription	Brain Germinal Matrix	brain
49	chr16:71715400-71723800	Weak transcription	NH-A	brain
50	chr16:71715800-71723400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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