Variant report

Variant	rs13333580
Chromosome Location	chr16:81488372-81488373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81486896..81488783-chr16:81605459..81607539,2	K562	blood:
2	chr16:81484666..81489373-chr16:81491892..81496112,4	MCF-7	breast:
3	chr16:81487188..81490116-chr16:81629347..81631108,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11150390	1.00[YRI][hapmap]
rs12596103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12596138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12596605	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes]
rs12599606	1.00[AMR][1000 genomes]
rs12599890	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13330589	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16955379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16955417	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2306115	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28517479	0.96[ASN][1000 genomes]
rs28634254	1.00[AMR][1000 genomes]
rs3803656	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs60898915	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9928008	1.00[CEU][hapmap]
rs9930117	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9932863	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes]
rs9934846	1.00[YRI][hapmap]

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	chr16:81481400-81491200	Weak transcription	NHLF	lung
2	chr16:81481400-81496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
4	chr16:81482600-81490800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:81482800-81489000	Enhancers	Fetal Intestine Large	intestine
6	chr16:81482800-81490000	Enhancers	Liver	Liver
7	chr16:81482800-81494400	Genic enhancers	Fetal Intestine Small	intestine
8	chr16:81483200-81489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:81484600-81488400	Enhancers	Adipose Nuclei	Adipose
10	chr16:81484600-81489400	Enhancers	Spleen	Spleen
11	chr16:81484800-81488400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr16:81485200-81488400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:81485200-81492800	Enhancers	Pancreas	Pancrea
14	chr16:81485400-81497000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr16:81485600-81489600	Weak transcription	HMEC	breast
16	chr16:81485600-81490000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:81485600-81490000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
19	chr16:81485800-81489400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr16:81485800-81490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:81485800-81490800	Weak transcription	NH-A	brain
22	chr16:81486000-81489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:81486000-81489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:81486000-81490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:81486000-81490200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr16:81486000-81500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:81486200-81489200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr16:81486200-81489800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:81486200-81490200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr16:81486400-81488800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:81486400-81489400	Weak transcription	Primary T cells from cord blood	blood
32	chr16:81486400-81489400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:81486400-81489400	Weak transcription	Fetal Brain Female	brain
34	chr16:81486400-81489800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:81486400-81490200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:81486400-81491000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:81486400-81501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:81486600-81495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr16:81486600-81502600	Weak transcription	Fetal Kidney	kidney
40	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:81486800-81489000	Weak transcription	NHEK	skin
42	chr16:81486800-81489400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:81486800-81489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:81486800-81493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:81487000-81489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:81487000-81489400	Enhancers	Duodenum Mucosa	Duodenum
47	chr16:81487000-81489800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:81487000-81490000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr16:81487000-81490600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:81487000-81491200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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