Variant report

Variant	rs13337224
Chromosome Location	chr16:71762738-71762739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71762449-71762778	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:71760198-71763288	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71761696..71764343-chr16:71777022..71779148,2	MCF-7	breast:
2	chr16:71762201..71765356-chr16:71767095..71769996,3	K562	blood:
3	chr16:71755440..71760927-chr16:71762234..71766346,5	K562	blood:
4	chr16:71760087..71762768-chr16:71767472..71770185,3	MCF-7	breast:
5	chr16:71755935..71758052-chr16:71761285..71763420,2	MCF-7	breast:
6	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:

No data

Variant related genes	Relation type
PHLPP2	TF binding region
ENSG00000166747	Chromatin interaction
ENSG00000260612	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000040199	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11075896	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333988	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	1.00[AFR][1000 genomes]
rs13337162	0.88[AFR][1000 genomes]
rs13338265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.83[AFR][1000 genomes]
rs28436203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28487278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681277	0.85[AFR][1000 genomes]
rs28712876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57187537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.83[AFR][1000 genomes]
rs58324033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	0.81[AFR][1000 genomes]
rs7196013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582271	0.83[AFR][1000 genomes]
rs73582274	0.83[AFR][1000 genomes]
rs73582278	0.83[AFR][1000 genomes]
rs73582282	0.83[AFR][1000 genomes]
rs8048170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921552	0.88[AFR][1000 genomes]
rs9924829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924862	0.88[AFR][1000 genomes]
rs9925371	0.85[AFR][1000 genomes]
rs9925712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.85[AFR][1000 genomes]
rs9927004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930573	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933862	0.81[AFR][1000 genomes]
rs9934778	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.95[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	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
3	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
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71758200-71765200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:71758200-71766200	Weak transcription	Gastric	stomach
3	chr16:71758400-71762800	Enhancers	Primary B cells from peripheral blood	blood
4	chr16:71758400-71763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:71758400-71763400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:71758400-71763400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:71758400-71763600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr16:71758400-71763800	Weak transcription	Fetal Stomach	stomach
9	chr16:71758400-71763800	Weak transcription	NHDF-Ad	bronchial
10	chr16:71758400-71764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:71758400-71764000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:71758400-71764000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:71758400-71764200	Weak transcription	HSMM	muscle
14	chr16:71758400-71764200	Weak transcription	HSMMtube	muscle
15	chr16:71758400-71764200	Weak transcription	NH-A	brain
16	chr16:71758400-71764400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr16:71758400-71764400	Weak transcription	Brain Angular Gyrus	brain
18	chr16:71758400-71764400	Weak transcription	Brain Germinal Matrix	brain
19	chr16:71758400-71764400	Weak transcription	Left Ventricle	heart
20	chr16:71758400-71764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:71758400-71765400	Weak transcription	Fetal Brain Female	brain
22	chr16:71758400-71765600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:71758400-71765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:71758400-71765600	Weak transcription	Brain Substantia Nigra	brain
25	chr16:71758400-71765600	Weak transcription	Fetal Brain Male	brain
26	chr16:71758400-71765600	Weak transcription	Fetal Lung	lung
27	chr16:71758400-71765600	Weak transcription	Pancreas	Pancrea
28	chr16:71758400-71765600	Weak transcription	Spleen	Spleen
29	chr16:71758400-71765800	Weak transcription	Right Ventricle	heart
30	chr16:71758400-71766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:71758400-71766200	Weak transcription	Psoas Muscle	Psoas
32	chr16:71758400-71766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:71758400-71766400	Weak transcription	Esophagus	oesophagus
34	chr16:71758400-71766400	Weak transcription	Right Atrium	heart
35	chr16:71758400-71771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:71758600-71763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:71758600-71763200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:71758600-71763400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:71758600-71763600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:71758600-71763600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:71758600-71763600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:71758600-71763600	Weak transcription	Placenta	Placenta
43	chr16:71758600-71763600	Weak transcription	Osteobl	bone
44	chr16:71758600-71763800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:71758600-71764000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:71758600-71764000	Weak transcription	Primary T cells from cord blood	blood
47	chr16:71758600-71764000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:71758600-71764000	Weak transcription	Fetal Muscle Leg	muscle
49	chr16:71758600-71764000	Weak transcription	Fetal Thymus	thymus
50	chr16:71758600-71764000	Weak transcription	NHLF	lung

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