Variant report

Variant	rs9930573
Chromosome Location	chr16:71707770-71707771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71705905..71707823-chr16:71709062..71711158,2	MCF-7	breast:
2	chr16:71706191..71708726-chr16:71709826..71711472,2	K562	blood:
3	chr16:71705048..71707910-chr16:71742030..71743762,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11075896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.91[AFR][1000 genomes]
rs13337162	0.96[AFR][1000 genomes]
rs13337224	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.92[AFR][1000 genomes]
rs28436203	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681277	0.93[AFR][1000 genomes]
rs28712876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28744680	0.83[AFR][1000 genomes]
rs28757746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209933	0.83[AFR][1000 genomes]
rs57187537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.92[AFR][1000 genomes]
rs58324033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258964	0.82[AFR][1000 genomes]
rs7196013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063658	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302626	0.83[AFR][1000 genomes]
rs9302628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921552	0.96[AFR][1000 genomes]
rs9924829	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924862	0.96[AFR][1000 genomes]
rs9925371	0.93[AFR][1000 genomes]
rs9925712	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.93[AFR][1000 genomes]
rs9927004	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.96[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:124 , 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	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
7	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:71686800-71717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:71689000-71710000	Weak transcription	Thymus	Thymus
12	chr16:71690600-71708800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:71690600-71709600	Weak transcription	Small Intestine	intestine
14	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
17	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:71694800-71710400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:71695000-71710800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr16:71695000-71725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:71695200-71719200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:71695200-71724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:71695200-71725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:71696000-71719000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:71696200-71713400	Strong transcription	Brain Germinal Matrix	brain
27	chr16:71696400-71720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:71696400-71725200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr16:71696600-71715800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr16:71697200-71711400	Strong transcription	Primary B cells from cord blood	blood
31	chr16:71697200-71718800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:71698400-71710000	Weak transcription	GM12878-XiMat	blood
33	chr16:71699200-71711400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:71699600-71711200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:71700200-71716600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr16:71701400-71713400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr16:71701400-71719200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:71701800-71715400	Weak transcription	Stomach Mucosa	stomach
39	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:71702600-71710600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:71702600-71713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:71702800-71709600	Strong transcription	HSMM	muscle
43	chr16:71703800-71718400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:71703800-71723800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr16:71704000-71710000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:71704000-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:71704200-71708400	Weak transcription	Hela-S3	cervix
48	chr16:71704200-71708400	Weak transcription	HMEC	breast
49	chr16:71704400-71708800	Weak transcription	Brain Substantia Nigra	brain
50	chr16:71704400-71709800	Weak transcription	HSMMtube	muscle

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