Variant report

Variant	rs62053796
Chromosome Location	chr16:71966463-71966464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71958595..71960870-chr16:71966170..71968682,3	K562	blood:
2	chr16:71961957..71964879-chr16:71965668..71968577,3	K562	blood:
3	chr16:71945578..71947499-chr16:71964859..71966489,2	MCF-7	breast:
4	chr16:71965319..71967704-chr16:72042287..72045013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102967	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000261337	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5475	1.00[AFR][1000 genomes]
rs62053158	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71948800-71968800	Strong transcription	Dnd41	blood
2	chr16:71948800-71969600	Strong transcription	Fetal Intestine Large	intestine
3	chr16:71949200-71966600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:71949200-71969600	Strong transcription	Fetal Thymus	thymus
5	chr16:71950600-71969600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:71950800-71968800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:71953200-71969600	Strong transcription	Liver	Liver
8	chr16:71953800-71966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:71953800-71969000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:71953800-71969600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:71954000-71969000	Strong transcription	GM12878-XiMat	blood
12	chr16:71954000-71969000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:71954000-71969400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:71954000-71969600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:71954200-71968200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr16:71954200-71969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:71955000-71969000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:71956800-71971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:71958000-71969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:71961800-71969600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:71962000-71971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:71962400-71967800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr16:71962600-71967600	Weak transcription	Colonic Mucosa	Colon
24	chr16:71962600-71967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:71962600-71967800	Weak transcription	Aorta	Aorta
26	chr16:71962600-71967800	Weak transcription	Pancreas	Pancrea
27	chr16:71962600-71969600	Strong transcription	Placenta	Placenta
28	chr16:71962600-71972000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:71963000-71967600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:71963200-71967800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:71963200-71967800	Weak transcription	Gastric	stomach
32	chr16:71963200-71967800	Weak transcription	Lung	lung
33	chr16:71963200-71968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:71963200-71972000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:71963200-71972800	Weak transcription	Right Ventricle	heart
36	chr16:71963400-71967000	Weak transcription	Brain Substantia Nigra	brain
37	chr16:71963400-71967200	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:71963400-71967600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:71963400-71968000	Weak transcription	Brain Angular Gyrus	brain
40	chr16:71963400-71969600	Strong transcription	Adipose Nuclei	Adipose
41	chr16:71963600-71966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:71963600-71966800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:71963600-71967000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr16:71963600-71967000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:71963600-71967000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:71963600-71967800	Weak transcription	Esophagus	oesophagus
47	chr16:71963600-71967800	Weak transcription	Left Ventricle	heart
48	chr16:71963600-71968000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:71963600-71968600	Weak transcription	Right Atrium	heart
50	chr16:71963600-71968800	Strong transcription	NHDF-Ad	bronchial

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