Variant report

Variant	rs58472329
Chromosome Location	chr16:11943766-11943767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:11889197..11895021-chr16:11943442..11946851,6	K562	blood:
2	chr16:11922826..11925817-chr16:11942952..11944590,2	MCF-7	breast:
3	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
4	chr16:11940299..11942446-chr16:11943353..11945680,3	K562	blood:
5	chr16:11922509..11925081-chr16:11942890..11945014,2	MCF-7	breast:
6	chr16:11889713..11895021-chr16:11941964..11945200,5	K562	blood:
7	chr16:11942158..11945019-chr16:12007276..12009748,2	K562	blood:
8	chr16:11936442..11940721-chr16:11941344..11946764,13	K562	blood:
9	chr16:11834805..11837629-chr16:11940990..11944217,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266163	Chromatin interaction
ENSG00000153066	Chromatin interaction
ENSG00000262117	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000122299	Chromatin interaction
ENSG00000262420	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13338411	0.84[EUR][1000 genomes]
rs16958698	0.88[AFR][1000 genomes]
rs16958700	0.83[EUR][1000 genomes]
rs373496	0.83[EUR][1000 genomes]
rs3885011	0.83[EUR][1000 genomes]
rs4780403	1.00[EUR][1000 genomes]
rs4780406	0.83[EUR][1000 genomes]
rs4781160	0.83[EUR][1000 genomes]
rs57934416	1.00[EUR][1000 genomes]
rs60578760	0.88[AFR][1000 genomes]
rs7193780	0.83[EUR][1000 genomes]
rs73509738	1.00[EUR][1000 genomes]
rs73509774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73509783	0.95[AFR][1000 genomes]
rs74010441	0.83[EUR][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	nsv482288	chr16:11776491-11946429	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11918600-11943800	Weak transcription	Right Atrium	heart
2	chr16:11929200-11944000	Strong transcription	Fetal Stomach	stomach
3	chr16:11929400-11943800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:11929600-11944000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:11930000-11943800	Strong transcription	Liver	Liver
6	chr16:11930000-11944000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr16:11930000-11944000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:11930200-11943800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:11930200-11943800	Strong transcription	Fetal Thymus	thymus
10	chr16:11930800-11944000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:11931000-11943800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr16:11931000-11943800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:11931000-11944200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:11931200-11943800	Strong transcription	HUVEC	blood vessel
15	chr16:11932000-11944000	Strong transcription	NH-A	brain
16	chr16:11939000-11944000	Weak transcription	Fetal Brain Male	brain
17	chr16:11940800-11944200	Weak transcription	Stomach Mucosa	stomach
18	chr16:11941000-11944000	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:11941200-11944000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:11941400-11943800	Weak transcription	Ovary	ovary
21	chr16:11941400-11943800	Weak transcription	Small Intestine	intestine
22	chr16:11941600-11943800	Genic enhancers	Hela-S3	cervix
23	chr16:11941800-11943800	Genic enhancers	Dnd41	blood
24	chr16:11941800-11944000	Weak transcription	Fetal Heart	heart
25	chr16:11941800-11944200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr16:11942400-11943800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:11942400-11943800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:11942400-11944200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:11942600-11943800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr16:11942600-11943800	Genic enhancers	NHEK	skin
31	chr16:11942600-11944000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:11942600-11944000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
33	chr16:11942800-11943800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:11942800-11943800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:11943000-11943800	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:11943000-11944000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr16:11943000-11944200	Genic enhancers	Fetal Intestine Small	intestine
38	chr16:11943000-11944200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:11943200-11943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:11943200-11943800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:11943200-11943800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr16:11943200-11943800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:11943200-11943800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:11943200-11943800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:11943200-11943800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:11943200-11943800	Weak transcription	Pancreas	Pancrea
47	chr16:11943200-11943800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr16:11943200-11943800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr16:11943200-11943800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:11943200-11943800	Weak transcription	Thymus	Thymus

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