Variant report

Variant	rs13330460
Chromosome Location	chr16:81487409-81487410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81486409..81487978-chr16:81548913..81551529,2	K562	blood:
2	chr16:81486896..81488783-chr16:81605459..81607539,2	K562	blood:
3	chr16:81484666..81489373-chr16:81491892..81496112,4	MCF-7	breast:
4	chr16:81487188..81490116-chr16:81629347..81631108,2	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]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13331648	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13335545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13336792	1.00[AMR][1000 genomes]
rs13338579	1.00[AMR][1000 genomes]
rs16955449	1.00[AMR][1000 genomes]
rs28412656	1.00[AMR][1000 genomes]
rs28418533	1.00[AMR][1000 genomes]
rs28436066	1.00[AMR][1000 genomes]
rs28438989	1.00[AMR][1000 genomes]
rs28493867	1.00[AMR][1000 genomes]
rs28572501	1.00[AMR][1000 genomes]
rs28594283	1.00[AMR][1000 genomes]
rs28669745	1.00[AMR][1000 genomes]
rs28711634	1.00[AMR][1000 genomes]
rs28763301	1.00[AMR][1000 genomes]
rs2927303	1.00[AMR][1000 genomes]
rs2927306	1.00[AMR][1000 genomes]
rs2927309	1.00[AMR][1000 genomes]
rs2927310	1.00[AMR][1000 genomes]
rs2966089	1.00[AMR][1000 genomes]
rs2966096	1.00[AMR][1000 genomes]
rs56850891	1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73594496	1.00[AMR][1000 genomes]
rs73596412	1.00[AMR][1000 genomes]
rs73596428	1.00[AMR][1000 genomes]
rs73596440	1.00[AMR][1000 genomes]
rs73596462	1.00[AMR][1000 genomes]
rs9921409	1.00[AMR][1000 genomes]
rs9923475	1.00[AMR][1000 genomes]
rs9925710	1.00[AMR][1000 genomes]
rs9925814	1.00[AMR][1000 genomes]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9931473	1.00[AMR][1000 genomes]
rs9932717	1.00[AMR][1000 genomes]
rs9933163	1.00[AMR][1000 genomes]
rs9934014	1.00[AMR][1000 genomes]
rs9934020	1.00[AMR][1000 genomes]
rs9934846	1.00[AMR][1000 genomes]
rs9934867	1.00[AMR][1000 genomes]
rs9935244	1.00[AMR][1000 genomes]
rs9935348	1.00[AMR][1000 genomes]
rs9935375	1.00[AMR][1000 genomes]
rs9935617	1.00[AMR][1000 genomes]
rs9935646	1.00[AMR][1000 genomes]
rs9936412	1.00[AMR][1000 genomes]
rs9937004	1.00[AMR][1000 genomes]
rs9937189	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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 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	chr16:81480600-81487600	Transcr. at gene 5' and 3'	A549	lung
2	chr16:81480800-81487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr16:81481400-81491200	Weak transcription	NHLF	lung
4	chr16:81481400-81496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
6	chr16:81482200-81487600	Enhancers	Stomach Mucosa	stomach
7	chr16:81482600-81490800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr16:81482800-81489000	Enhancers	Fetal Intestine Large	intestine
9	chr16:81482800-81490000	Enhancers	Liver	Liver
10	chr16:81482800-81494400	Genic enhancers	Fetal Intestine Small	intestine
11	chr16:81483200-81489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:81483400-81487600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr16:81484200-81487600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:81484600-81488400	Enhancers	Adipose Nuclei	Adipose
15	chr16:81484600-81489400	Enhancers	Spleen	Spleen
16	chr16:81484800-81487800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81484800-81488400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr16:81485000-81487600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr16:81485200-81487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81485200-81487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:81485200-81487600	Enhancers	Brain Germinal Matrix	brain
22	chr16:81485200-81487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:81485200-81487800	Enhancers	Brain Angular Gyrus	brain
24	chr16:81485200-81487800	Enhancers	Brain Anterior Caudate	brain
25	chr16:81485200-81487800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr16:81485200-81487800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:81485200-81487800	Enhancers	Fetal Muscle Leg	muscle
28	chr16:81485200-81487800	Enhancers	Left Ventricle	heart
29	chr16:81485200-81487800	Enhancers	Lung	lung
30	chr16:81485200-81487800	Enhancers	Right Atrium	heart
31	chr16:81485200-81488000	Enhancers	Brain Hippocampus Middle	brain
32	chr16:81485200-81488400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:81485200-81492800	Enhancers	Pancreas	Pancrea
34	chr16:81485400-81487600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:81485400-81487600	Enhancers	Ovary	ovary
36	chr16:81485400-81497000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:81485600-81487600	Enhancers	Right Ventricle	heart
38	chr16:81485600-81487800	Enhancers	Brain Cingulate Gyrus	brain
39	chr16:81485600-81487800	Enhancers	Brain Substantia Nigra	brain
40	chr16:81485600-81489600	Weak transcription	HMEC	breast
41	chr16:81485600-81490000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:81485600-81490000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
44	chr16:81485800-81487600	Enhancers	Esophagus	oesophagus
45	chr16:81485800-81489400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr16:81485800-81490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:81485800-81490800	Weak transcription	NH-A	brain
48	chr16:81486000-81489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:81486000-81489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:81486000-81490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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