Variant report

Variant	rs59834857
Chromosome Location	chr16:81553153-81553154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81477723..81479241-chr16:81552723..81554564,2	MCF-7	breast:
2	chr16:81549027..81553526-chr16:81553827..81556992,4	MCF-7	breast:
3	chr16:81538598..81540305-chr16:81552129..81554762,2	K562	blood:
4	chr16:81546606..81548288-chr16:81551427..81553768,2	K562	blood:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12598928	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16955462	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966098	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2966099	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55932963	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56000269	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57078137	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59803316	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62046582	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9940586	0.81[AMR][1000 genomes];0.81[EUR][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	chr16:81544200-81554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr16:81545200-81553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:81547400-81554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:81547600-81554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:81547600-81554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
10	chr16:81547800-81557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:81548000-81553200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:81548000-81553800	Strong transcription	Primary T cells from cord blood	blood
14	chr16:81548000-81564200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:81548000-81564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:81548200-81554400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr16:81548200-81559600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:81548200-81560000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:81548200-81560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:81548400-81553600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:81548600-81553200	Weak transcription	Gastric	stomach
22	chr16:81548800-81553200	Weak transcription	Colonic Mucosa	Colon
23	chr16:81548800-81555600	Weak transcription	Small Intestine	intestine
24	chr16:81548800-81558000	Strong transcription	Fetal Stomach	stomach
25	chr16:81548800-81560400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:81548800-81567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:81549000-81553600	Weak transcription	Fetal Brain Male	brain
28	chr16:81549000-81555200	Weak transcription	Fetal Heart	heart
29	chr16:81549600-81553200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:81549800-81554200	Weak transcription	Fetal Brain Female	brain
31	chr16:81550400-81553200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:81550400-81553400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:81550400-81553800	Weak transcription	Brain Germinal Matrix	brain
34	chr16:81550800-81555000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr16:81551000-81554000	Genic enhancers	NHEK	skin
36	chr16:81551000-81554600	Enhancers	Placenta	Placenta
37	chr16:81551000-81555000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:81551000-81559600	Weak transcription	Fetal Lung	lung
39	chr16:81551200-81555400	Weak transcription	K562	blood
40	chr16:81551400-81553200	Enhancers	Fetal Muscle Trunk	muscle
41	chr16:81551400-81553800	Enhancers	Lung	lung
42	chr16:81551400-81554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:81551400-81554400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:81551400-81559000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr16:81551400-81559200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:81551400-81563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:81551600-81553600	Genic enhancers	HepG2	liver
48	chr16:81551600-81557200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:81551800-81553600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:81551800-81555600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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