Variant report

Variant	rs16903509
Chromosome Location	chr5:14428888-14428889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11950000	0.89[EUR][1000 genomes]
rs17428704	0.82[EUR][1000 genomes]
rs28416767	1.00[EUR][1000 genomes]
rs28482202	1.00[EUR][1000 genomes]
rs28548493	1.00[EUR][1000 genomes]
rs57640930	0.89[EUR][1000 genomes]
rs58260094	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344984	0.83[EUR][1000 genomes]
rs62345048	1.00[EUR][1000 genomes]
rs62345051	0.82[EUR][1000 genomes]
rs62345052	0.82[EUR][1000 genomes]
rs62345053	0.82[EUR][1000 genomes]
rs730185	0.83[EUR][1000 genomes]
rs73061636	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:14412000-14429600	Strong transcription	Fetal Intestine Small	intestine
4	chr5:14412600-14433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:14413600-14430200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
7	chr5:14415000-14429000	Strong transcription	Primary B cells from cord blood	blood
8	chr5:14416000-14430400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:14417200-14431600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:14417800-14430800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr5:14418400-14429200	Strong transcription	Colonic Mucosa	Colon
12	chr5:14418600-14431600	Strong transcription	GM12878-XiMat	blood
13	chr5:14419000-14432400	Strong transcription	NHLF	lung
14	chr5:14421200-14433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:14422200-14433600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:14422200-14434800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:14422200-14452200	Weak transcription	Thymus	Thymus
18	chr5:14422400-14429200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:14422400-14429200	Weak transcription	Stomach Mucosa	stomach
20	chr5:14422400-14429600	Strong transcription	NHEK	skin
21	chr5:14422400-14433400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:14422600-14429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:14422600-14433800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:14423400-14432600	Weak transcription	Fetal Kidney	kidney
25	chr5:14423600-14432000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:14423600-14432600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:14423800-14429400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:14424800-14429600	Strong transcription	Liver	Liver
29	chr5:14425000-14460800	Weak transcription	Primary T cells from cord blood	blood
30	chr5:14425200-14429600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr5:14425600-14429400	Strong transcription	HMEC	breast
32	chr5:14425600-14435200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:14425800-14445800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:14426000-14440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:14426200-14429200	Strong transcription	Lung	lung
36	chr5:14426200-14430200	Genic enhancers	HSMM	muscle
37	chr5:14426400-14437000	Weak transcription	HepG2	liver
38	chr5:14426600-14431400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr5:14426800-14429600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr5:14426800-14432400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:14426800-14432600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:14426800-14438400	Weak transcription	Hela-S3	cervix
43	chr5:14427000-14429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:14427200-14429200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:14427200-14429600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:14427400-14429600	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr5:14427400-14429600	Enhancers	Right Atrium	heart
48	chr5:14427400-14435800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:14427600-14429000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:14427600-14429600	Enhancers	Ovary	ovary

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