Variant report

Variant	rs9927004
Chromosome Location	chr16:71711954-71711955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71711675..71714300-chr16:71757117..71759579,2	MCF-7	breast:
2	chr16:71711063..71712806-chr16:71716837..71718394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000040199	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11075896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334187	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.95[AFR][1000 genomes]
rs13337162	0.93[AFR][1000 genomes]
rs13337224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.88[AFR][1000 genomes]
rs28436203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681277	0.90[AFR][1000 genomes]
rs28712876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28744680	0.80[AFR][1000 genomes]
rs28757746	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209933	0.80[AFR][1000 genomes]
rs57187537	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.88[AFR][1000 genomes]
rs58324033	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582271	0.81[AFR][1000 genomes]
rs73582274	0.81[AFR][1000 genomes]
rs73582278	0.81[AFR][1000 genomes]
rs73582282	0.81[AFR][1000 genomes]
rs8048170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063658	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302626	0.80[AFR][1000 genomes]
rs9302628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921552	0.93[AFR][1000 genomes]
rs9924829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924862	0.93[AFR][1000 genomes]
rs9925371	0.90[AFR][1000 genomes]
rs9925712	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.90[AFR][1000 genomes]
rs9928298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	1.00[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	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
6	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:71686800-71717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
13	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:71695000-71725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:71695200-71719200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:71695200-71724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:71695200-71725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71696000-71719000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:71696200-71713400	Strong transcription	Brain Germinal Matrix	brain
21	chr16:71696400-71720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:71696400-71725200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:71696600-71715800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:71697200-71718800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:71700200-71716600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr16:71701400-71713400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr16:71701400-71719200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:71701800-71715400	Weak transcription	Stomach Mucosa	stomach
29	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:71702600-71713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:71703800-71718400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:71703800-71723800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:71704000-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:71704400-71716200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr16:71705000-71721200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:71705000-71741600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
38	chr16:71705000-71756800	Weak transcription	Gastric	stomach
39	chr16:71705200-71732200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:71705400-71717000	Weak transcription	Fetal Heart	heart
41	chr16:71705400-71733000	Weak transcription	Pancreas	Pancrea
42	chr16:71706600-71714000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:71706800-71719400	Strong transcription	HepG2	liver
44	chr16:71707000-71713200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:71707200-71713400	Strong transcription	Left Ventricle	heart
46	chr16:71707200-71713600	Strong transcription	Brain Anterior Caudate	brain
47	chr16:71707200-71718800	Strong transcription	Osteobl	bone
48	chr16:71707200-71719600	Strong transcription	Fetal Muscle Leg	muscle
49	chr16:71707400-71716800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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