Variant report

Variant	rs2966099
Chromosome Location	chr16:81550448-81550449
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	chr16:81486409..81487978-chr16:81548913..81551529,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12445748	0.86[MEX][hapmap];0.87[TSI][hapmap]
rs12598928	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16955460	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs16955462	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2927332	0.86[MEX][hapmap]
rs2927334	0.86[MEX][hapmap]
rs2966098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55932963	0.80[AMR][1000 genomes]
rs56000269	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57078137	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59803316	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59834857	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62046582	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9940586	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3492606	chr16:81550449-81550585	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	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	chr16:81541400-81551400	Enhancers	HUVEC	blood vessel
3	chr16:81544200-81554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr16:81545200-81553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:81545400-81553000	Weak transcription	Hela-S3	cervix
6	chr16:81546600-81550600	Enhancers	Placenta	Placenta
7	chr16:81546800-81550600	Enhancers	Pancreas	Pancrea
8	chr16:81547400-81554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:81547600-81551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:81547600-81551200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:81547600-81551600	Enhancers	Adipose Nuclei	Adipose
13	chr16:81547600-81554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr16:81547600-81554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
17	chr16:81547800-81553000	Weak transcription	Brain Anterior Caudate	brain
18	chr16:81547800-81553000	Genic enhancers	A549	lung
19	chr16:81547800-81557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:81548000-81551000	Weak transcription	Osteobl	bone
22	chr16:81548000-81551400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr16:81548000-81551400	Weak transcription	NHLF	lung
24	chr16:81548000-81552800	Weak transcription	Brain Hippocampus Middle	brain
25	chr16:81548000-81553000	Weak transcription	Brain Substantia Nigra	brain
26	chr16:81548000-81553200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr16:81548000-81553800	Strong transcription	Primary T cells from cord blood	blood
28	chr16:81548000-81564200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr16:81548000-81564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:81548200-81550600	Strong transcription	Fetal Intestine Small	intestine
31	chr16:81548200-81551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:81548200-81551200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:81548200-81551200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr16:81548200-81551200	Weak transcription	NH-A	brain
35	chr16:81548200-81551800	Weak transcription	HSMMtube	muscle
36	chr16:81548200-81554400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr16:81548200-81559600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr16:81548200-81560000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:81548200-81560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr16:81548400-81553000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81548400-81553000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:81548400-81553600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:81548600-81551400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr16:81548600-81551800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr16:81548600-81551800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr16:81548600-81552800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr16:81548600-81553000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:81548600-81553200	Weak transcription	Gastric	stomach
49	chr16:81548800-81552800	Weak transcription	Stomach Mucosa	stomach
50	chr16:81548800-81553000	Weak transcription	Brain Inferior Temporal Lobe	brain

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