Variant report

Variant	rs2966096
Chromosome Location	chr16:81549578-81549579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81548752..81553118-chr16:81553470..81556973,6	K562	blood:
2	chr16:81548835..81551828-chr16:81553933..81555713,2	MCF-7	breast:
3	chr16:81549027..81553526-chr16:81553827..81556992,4	MCF-7	breast:
4	chr16:81515452..81518298-chr16:81547120..81549781,2	MCF-7	breast:
5	chr16:81486409..81487978-chr16:81548913..81551529,2	K562	blood:
6	chr16:81547505..81549676-chr16:81576353..81579232,2	MCF-7	breast:
7	chr16:81477284..81479260-chr16:81547763..81549625,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13331648	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13335545	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]
rs28418533	1.00[AMR][1000 genomes]
rs28436066	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]
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]
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]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9933163	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]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:81533800-81550000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:81534800-81550000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:81541400-81551400	Enhancers	HUVEC	blood vessel
5	chr16:81544200-81554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr16:81545200-81549600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:81545200-81550000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:81545200-81550200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:81545200-81553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:81545400-81553000	Weak transcription	Hela-S3	cervix
11	chr16:81545800-81549600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:81546600-81549600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:81546600-81550400	Enhancers	Right Atrium	heart
14	chr16:81546600-81550600	Enhancers	Placenta	Placenta
15	chr16:81546800-81549600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:81546800-81549600	Enhancers	Spleen	Spleen
17	chr16:81546800-81550400	Enhancers	Left Ventricle	heart
18	chr16:81546800-81550400	Enhancers	Lung	lung
19	chr16:81546800-81550400	Enhancers	Right Ventricle	heart
20	chr16:81546800-81550600	Enhancers	Pancreas	Pancrea
21	chr16:81547200-81549800	Genic enhancers	NHEK	skin
22	chr16:81547400-81550000	Weak transcription	Thymus	Thymus
23	chr16:81547400-81554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:81547600-81549800	Weak transcription	Fetal Intestine Large	intestine
26	chr16:81547600-81550000	Weak transcription	Dnd41	blood
27	chr16:81547600-81550400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:81547600-81550400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr16:81547600-81551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:81547600-81551200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:81547600-81551600	Enhancers	Adipose Nuclei	Adipose
32	chr16:81547600-81554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:81547600-81554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
36	chr16:81547800-81550000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:81547800-81550200	Weak transcription	Fetal Lung	lung
38	chr16:81547800-81550400	Weak transcription	Fetal Thymus	thymus
39	chr16:81547800-81553000	Weak transcription	Brain Anterior Caudate	brain
40	chr16:81547800-81553000	Genic enhancers	A549	lung
41	chr16:81547800-81557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:81548000-81550400	Enhancers	Esophagus	oesophagus
44	chr16:81548000-81551000	Weak transcription	Osteobl	bone
45	chr16:81548000-81551400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:81548000-81551400	Weak transcription	NHLF	lung
47	chr16:81548000-81552800	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:81548000-81553000	Weak transcription	Brain Substantia Nigra	brain
49	chr16:81548000-81553200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr16:81548000-81553800	Strong transcription	Primary T cells from cord blood	blood

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