Variant report

Variant	rs55987128
Chromosome Location	chr16:48567437-48567438
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48562124..48563950-chr16:48565271..48567910,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11076574	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12443672	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12443883	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12597314	0.81[EUR][1000 genomes]
rs1825684	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1906047	0.81[EUR][1000 genomes]
rs3743778	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4785522	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4785523	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4785524	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61268951	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1064323	chr16:48531171-48573066	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1060196	chr16:48531171-48578101	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48559200-48571600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:48559600-48570400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48561000-48569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:48561000-48569400	Weak transcription	Colonic Mucosa	Colon
5	chr16:48561000-48570200	Weak transcription	Fetal Intestine Small	intestine
6	chr16:48561000-48574400	Weak transcription	Fetal Intestine Large	intestine
7	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:48564000-48570400	Weak transcription	Thymus	Thymus
9	chr16:48565400-48568400	Weak transcription	Lung	lung
10	chr16:48565400-48569400	Weak transcription	Fetal Thymus	thymus
11	chr16:48565600-48573000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:48565800-48567600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:48565800-48568400	Weak transcription	Placenta	Placenta
14	chr16:48565800-48569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:48565800-48569000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:48565800-48569200	Weak transcription	HSMM	muscle
17	chr16:48565800-48569400	Weak transcription	Fetal Brain Female	brain
18	chr16:48565800-48569600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:48565800-48570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:48565800-48570800	Weak transcription	Gastric	stomach
21	chr16:48566000-48568600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:48566000-48571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:48566200-48567800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:48566200-48568600	Weak transcription	Brain Germinal Matrix	brain
25	chr16:48566200-48568600	Weak transcription	Esophagus	oesophagus
26	chr16:48566200-48569000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:48566200-48569000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:48566200-48569000	Weak transcription	HepG2	liver
29	chr16:48566200-48569200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:48566200-48569200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr16:48566200-48569600	Weak transcription	Fetal Lung	lung
32	chr16:48566200-48569600	Weak transcription	NHLF	lung
33	chr16:48566400-48567800	Weak transcription	Adipose Nuclei	Adipose
34	chr16:48566400-48567800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:48566400-48568000	Weak transcription	Fetal Stomach	stomach
36	chr16:48566400-48569000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:48566400-48569000	Weak transcription	Psoas Muscle	Psoas
38	chr16:48566400-48569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:48566400-48569200	Weak transcription	Ovary	ovary
40	chr16:48566400-48569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:48566400-48569400	Weak transcription	NHDF-Ad	bronchial
42	chr16:48566400-48569600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:48566400-48569800	Weak transcription	Stomach Mucosa	stomach
44	chr16:48566400-48583000	Weak transcription	Fetal Brain Male	brain
45	chr16:48566600-48567600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr16:48566600-48567800	Weak transcription	Fetal Muscle Leg	muscle

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