Variant report

Variant	rs2060860
Chromosome Location	chr16:80639640-80639641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80611783..80614483-chr16:80638883..80641243,2	MCF-7	breast:
2	chr16:80584426..80584926-chr16:80639470..80640056,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4545832	0.84[EUR][1000 genomes]
rs7191157	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194920	0.80[EUR][1000 genomes]
rs7196676	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1056083	chr16:80636184-80666779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2060860	C16orf61	cis	cerebellum	SCAN
rs2060860	MON1B	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80625400-80645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:80626000-80639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:80626200-80640000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:80626200-80640000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr16:80626800-80645800	Weak transcription	Right Ventricle	heart
6	chr16:80629200-80647600	Weak transcription	NHEK	skin
7	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
8	chr16:80631000-80641400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:80633800-80640800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:80633800-80645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:80634000-80647800	Weak transcription	NHLF	lung
12	chr16:80634200-80640800	Weak transcription	Adipose Nuclei	Adipose
13	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
14	chr16:80634400-80640200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr16:80634400-80641000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:80634600-80641000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr16:80634800-80645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:80635000-80640000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:80635000-80651200	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
21	chr16:80636000-80639800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:80636000-80640200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:80636000-80648200	Strong transcription	Hela-S3	cervix
24	chr16:80636200-80639800	Weak transcription	Esophagus	oesophagus
25	chr16:80636400-80641800	Weak transcription	Fetal Stomach	stomach
26	chr16:80636400-80645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:80636400-80647800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr16:80636600-80641800	Weak transcription	Fetal Intestine Large	intestine
29	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
30	chr16:80637000-80640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:80637000-80640400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:80637000-80653400	Weak transcription	HSMM	muscle
33	chr16:80637200-80644400	Weak transcription	NHDF-Ad	bronchial
34	chr16:80637200-80648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:80637400-80644800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:80637400-80648600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:80637800-80642600	Strong transcription	Spleen	Spleen
38	chr16:80637800-80643200	Strong transcription	HUVEC	blood vessel
39	chr16:80637800-80647200	Strong transcription	Fetal Intestine Small	intestine
40	chr16:80638200-80645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:80638400-80641000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:80638400-80641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:80638600-80640200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr16:80638600-80640200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:80638600-80641000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:80638600-80641400	Weak transcription	Liver	Liver
47	chr16:80638600-80645400	Weak transcription	Pancreas	Pancrea
48	chr16:80638600-80645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:80638600-80648000	Weak transcription	Left Ventricle	heart
50	chr16:80638800-80639800	Weak transcription	Primary T cells fromperipheralblood	blood

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