Variant report

Variant	rs2966088
Chromosome Location	chr16:81521914-81521915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81520681..81522605-chr16:81522755..81525287,2	MCF-7	breast:
2	chr16:81516881..81521971-chr16:81523389..81527475,7	MCF-7	breast:
3	chr16:81520528..81523163-chr16:81525818..81527534,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12448434	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12449079	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12599608	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12599762	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17777143	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17777180	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2926003	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926004	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2966087	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3901653	0.82[AMR][1000 genomes]
rs7191608	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7192108	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7198696	0.84[AMR][1000 genomes]
rs898970	0.86[CEU][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
4	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:81510400-81522400	Weak transcription	Fetal Brain Female	brain
7	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
9	chr16:81512400-81525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:81514800-81522200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:81515800-81523800	Enhancers	Brain Hippocampus Middle	brain
14	chr16:81516200-81525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:81516400-81525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:81516400-81525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:81516600-81525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:81516800-81525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:81517000-81522800	Weak transcription	Brain Germinal Matrix	brain
20	chr16:81517000-81523000	Weak transcription	GM12878-XiMat	blood
21	chr16:81517200-81525600	Weak transcription	Small Intestine	intestine
22	chr16:81517400-81526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81517400-81526600	Weak transcription	Hela-S3	cervix
24	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:81517600-81523800	Enhancers	Brain Anterior Caudate	brain
26	chr16:81517600-81526800	Genic enhancers	A549	lung
27	chr16:81517800-81523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:81518000-81522400	Weak transcription	Primary B cells from cord blood	blood
29	chr16:81518000-81522400	Strong transcription	NHEK	skin
30	chr16:81518200-81525400	Weak transcription	HMEC	breast
31	chr16:81518200-81527000	Weak transcription	Thymus	Thymus
32	chr16:81518400-81522200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr16:81518400-81522200	Weak transcription	Placenta	Placenta
34	chr16:81518400-81525400	Enhancers	NHDF-Ad	bronchial
35	chr16:81518600-81522600	Weak transcription	Esophagus	oesophagus
36	chr16:81519000-81522000	Enhancers	NH-A	brain
37	chr16:81519400-81522600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:81519400-81523200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:81519400-81523600	Enhancers	Brain Angular Gyrus	brain
40	chr16:81519400-81523800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr16:81519400-81523800	Enhancers	Ovary	ovary
42	chr16:81519400-81525400	Enhancers	Adipose Nuclei	Adipose
43	chr16:81519600-81523800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:81519600-81524200	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr16:81519800-81522200	Weak transcription	Fetal Intestine Large	intestine
47	chr16:81519800-81522800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:81519800-81523200	Strong transcription	Fetal Intestine Small	intestine
49	chr16:81519800-81527200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr16:81520000-81523400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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