Variant report

Variant	rs13330279
Chromosome Location	chr16:77235574-77235575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77234203..77235737-chr16:77245054..77247777,2	MCF-7	breast:
2	chr16:77235549..77237058-chr16:77254085..77256585,2	K562	blood:
3	chr16:77223287..77227235-chr16:77231893..77237199,5	MCF-7	breast:
4	chr16:77231454..77233524-chr16:77233775..77237585,4	MCF-7	breast:
5	chr16:77223922..77226373-chr16:77234671..77237150,2	MCF-7	breast:
6	chr16:77228552..77231268-chr16:77235268..77236824,2	MCF-7	breast:
7	chr16:77234733..77236647-chr16:77240171..77241998,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS18-1	chr16:77235371-77235872	ENSG00000261063.1

No data

Variant related genes	Relation type
ENSG00000205078	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000226348	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1019565	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11149971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544783	1.00[ASN][1000 genomes]
rs11860898	0.91[ASN][1000 genomes]
rs11863718	1.00[ASN][1000 genomes]
rs12931673	0.90[ASN][1000 genomes]
rs13329731	0.90[ASN][1000 genomes]
rs13329816	0.90[ASN][1000 genomes]
rs13330367	0.90[ASN][1000 genomes]
rs13332812	0.90[ASN][1000 genomes]
rs13336198	1.00[ASN][1000 genomes]
rs13337994	0.90[ASN][1000 genomes]
rs13339324	0.81[ASN][1000 genomes]
rs1428838	0.90[ASN][1000 genomes]
rs1428839	0.90[ASN][1000 genomes]
rs2017197	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539358	0.90[ASN][1000 genomes]
rs61746433	1.00[ASN][1000 genomes]
rs6564417	0.90[ASN][1000 genomes]
rs7184776	0.91[ASN][1000 genomes]
rs7188241	0.90[ASN][1000 genomes]
rs719053	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7198006	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7198588	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7201284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7203467	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73627401	0.90[ASN][1000 genomes]
rs73633620	0.90[ASN][1000 genomes]
rs73633624	0.90[ASN][1000 genomes]
rs73633633	0.90[ASN][1000 genomes]
rs73633644	0.90[ASN][1000 genomes]
rs73633647	0.90[ASN][1000 genomes]
rs73633654	0.90[ASN][1000 genomes]
rs73633661	0.90[ASN][1000 genomes]
rs7501191	0.90[ASN][1000 genomes]
rs8048478	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9924958	1.00[ASN][1000 genomes]
rs9929722	0.90[ASN][1000 genomes]
rs9931082	1.00[ASN][1000 genomes]
rs9931400	0.90[ASN][1000 genomes]
rs9935921	0.90[ASN][1000 genomes]
rs9936182	0.90[ASN][1000 genomes]
rs9937408	0.90[ASN][1000 genomes]
rs9937693	0.90[ASN][1000 genomes]
rs9938871	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77226200-77240400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:77226400-77240200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:77226600-77235600	Strong transcription	Fetal Thymus	thymus
4	chr16:77226800-77235600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:77226800-77235600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:77226800-77235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:77227000-77235600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:77227000-77235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:77227000-77235600	Strong transcription	Liver	Liver
10	chr16:77227000-77235800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:77227000-77236200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:77227000-77236600	Strong transcription	Primary T cells from cord blood	blood
13	chr16:77227000-77246000	Weak transcription	Fetal Heart	heart
14	chr16:77227200-77235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:77227200-77235600	Strong transcription	Placenta	Placenta
16	chr16:77227200-77245800	Weak transcription	Fetal Kidney	kidney
17	chr16:77227200-77247200	Weak transcription	Hela-S3	cervix
18	chr16:77227400-77235600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:77227600-77235600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr16:77227800-77236600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:77228200-77235600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr16:77228800-77235600	Strong transcription	Fetal Intestine Large	intestine
23	chr16:77229000-77235600	Strong transcription	Primary B cells from cord blood	blood
24	chr16:77230000-77235600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr16:77230200-77235600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:77231000-77235600	Strong transcription	Brain Hippocampus Middle	brain
27	chr16:77231400-77235600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr16:77231400-77235600	Strong transcription	Brain Cingulate Gyrus	brain
29	chr16:77233000-77236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:77233200-77243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:77233200-77245600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:77233200-77245600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:77233200-77245800	Weak transcription	NHEK	skin
34	chr16:77233400-77236200	Weak transcription	Small Intestine	intestine
35	chr16:77233400-77236600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr16:77233400-77236600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr16:77233400-77237600	Weak transcription	NHDF-Ad	bronchial
38	chr16:77233400-77238000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:77233400-77238400	Weak transcription	NHLF	lung
40	chr16:77233400-77239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:77233400-77240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:77233400-77245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:77233400-77245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:77233400-77245600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:77233400-77245600	Weak transcription	HMEC	breast
46	chr16:77233400-77245600	Weak transcription	NH-A	brain
47	chr16:77233400-77246000	Weak transcription	Aorta	Aorta
48	chr16:77233400-77246000	Weak transcription	Brain Angular Gyrus	brain
49	chr16:77233400-77246000	Weak transcription	Brain Substantia Nigra	brain
50	chr16:77233600-77240200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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