Variant report

Variant	rs12445161
Chromosome Location	chr16:71741928-71741929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71739035..71741203-chr16:71741619..71744296,3	MCF-7	breast:
2	chr16:71729775..71731608-chr16:71740733..71743047,2	MCF-7	breast:
3	chr16:71736426..71738728-chr16:71741906..71744683,2	K562	blood:
4	chr16:71659450..71662111-chr16:71741830..71743382,2	MCF-7	breast:
5	chr16:71741661..71743207-chr16:71744792..71746297,2	MCF-7	breast:
6	chr16:71739937..71742860-chr16:71756271..71759458,5	MCF-7	breast:
7	chr16:71741780..71745597-chr16:71754510..71759356,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260593	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000040199	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10500560	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1056303	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11075903	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11639902	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11640830	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641113	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11642526	0.96[ASN][1000 genomes]
rs11642529	0.89[ASN][1000 genomes]
rs11645704	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11645725	0.84[EUR][1000 genomes]
rs11648483	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11670	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12446005	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12447094	0.86[EUR][1000 genomes]
rs12448022	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12919271	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12924631	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12928939	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12933007	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12935106	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1345868	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34028112	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34358623	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34680964	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34731378	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34998650	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35706035	1.00[ASN][1000 genomes]
rs61753635	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71386932	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71403864	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7185575	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7192860	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7197104	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7202840	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7205340	0.81[EUR][1000 genomes]
rs8049163	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8051878	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8053623	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8057568	0.85[EUR][1000 genomes];0.89[ASN][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	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
4	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:71705000-71756800	Weak transcription	Gastric	stomach
6	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:71710600-71756800	Weak transcription	Lung	lung
10	chr16:71711200-71756400	Weak transcription	K562	blood
11	chr16:71715800-71756000	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:71721600-71748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:71724400-71748800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:71724400-71756000	Weak transcription	Dnd41	blood
16	chr16:71724400-71756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:71724600-71756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:71724800-71756000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:71725000-71743000	Weak transcription	HUVEC	blood vessel
20	chr16:71725000-71756000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:71725000-71756600	Weak transcription	Left Ventricle	heart
22	chr16:71726000-71743400	Weak transcription	Fetal Kidney	kidney
23	chr16:71727600-71745600	Weak transcription	GM12878-XiMat	blood
24	chr16:71733400-71756600	Weak transcription	Aorta	Aorta
25	chr16:71733800-71745800	Weak transcription	Brain Angular Gyrus	brain
26	chr16:71733800-71745800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:71733800-71756000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:71734000-71743600	Weak transcription	Adipose Nuclei	Adipose
29	chr16:71734000-71745800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:71734000-71756400	Weak transcription	Liver	Liver
31	chr16:71734000-71756600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:71734000-71756600	Weak transcription	Thymus	Thymus
33	chr16:71734000-71756800	Weak transcription	Pancreas	Pancrea
34	chr16:71734200-71748200	Weak transcription	Primary T cells from cord blood	blood
35	chr16:71734200-71748400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:71734200-71756200	Weak transcription	Fetal Lung	lung
37	chr16:71734400-71747600	Weak transcription	Brain Germinal Matrix	brain
38	chr16:71735000-71755800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:71735600-71743400	Weak transcription	Placenta	Placenta
40	chr16:71735600-71748000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:71736000-71756400	Weak transcription	Brain Substantia Nigra	brain
42	chr16:71736200-71743200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr16:71736400-71744200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:71736400-71745800	Weak transcription	Brain Anterior Caudate	brain
45	chr16:71736400-71753200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:71736600-71748000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr16:71736600-71756000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:71737000-71746800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr16:71739600-71742000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr16:71739800-71742000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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