Variant report

Variant	rs7019479
Chromosome Location	chr9:79098159-79098160
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10119532	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11144922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12237420	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3739516	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4526423	0.98[ASN][1000 genomes]
rs4745551	0.84[ASN][1000 genomes]
rs4745552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62565112	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62565117	0.82[EUR][1000 genomes]
rs62565119	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7858497	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs785934	0.90[ASN][1000 genomes]
rs785936	0.96[ASN][1000 genomes]
rs7862822	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7871849	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79075400-79101000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
3	chr9:79080800-79117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:79081800-79117200	Weak transcription	Gastric	stomach
5	chr9:79082600-79117600	Weak transcription	NHLF	lung
6	chr9:79087600-79117400	Weak transcription	Colonic Mucosa	Colon
7	chr9:79089000-79100800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:79089000-79103400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:79089000-79116400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:79091200-79108800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:79093400-79101200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:79093400-79102800	Weak transcription	Lung	lung
13	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
14	chr9:79093600-79100800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr9:79093600-79103600	Weak transcription	Fetal Thymus	thymus
16	chr9:79093600-79111400	Weak transcription	NHDF-Ad	bronchial
17	chr9:79093600-79117200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:79093800-79098600	Weak transcription	Fetal Intestine Large	intestine
19	chr9:79093800-79098600	Weak transcription	HSMM	muscle
20	chr9:79093800-79101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:79093800-79101400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:79093800-79101600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:79093800-79101600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:79093800-79102000	Weak transcription	Primary B cells from cord blood	blood
25	chr9:79093800-79102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:79093800-79103000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:79093800-79105400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:79093800-79109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:79093800-79116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:79093800-79117000	Weak transcription	HMEC	breast
31	chr9:79093800-79118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:79094000-79100800	Weak transcription	Osteobl	bone
33	chr9:79094200-79101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:79094200-79102000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:79094200-79120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:79097000-79100400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:79097000-79101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:79097000-79102200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:79097000-79104000	Strong transcription	Fetal Intestine Small	intestine
40	chr9:79097200-79100600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:79097200-79101000	Weak transcription	Stomach Mucosa	stomach
42	chr9:79097200-79101800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:79097200-79104000	Weak transcription	Small Intestine	intestine
44	chr9:79097200-79117200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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