Variant report

Variant	rs9329062
Chromosome Location	chr5:177056005-177056006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10045871	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10078930	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10479521	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11545868	0.88[EUR][1000 genomes]
rs11960689	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12651744	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12656594	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28534743	0.82[EUR][1000 genomes]
rs28738071	0.83[EUR][1000 genomes]
rs335487	0.83[EUR][1000 genomes]
rs34705130	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4976703	0.90[EUR][1000 genomes]
rs6876792	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs747861	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7710333	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7717102	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7720519	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7729422	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7731640	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs968406	0.90[AMR][1000 genomes];0.91[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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv964980	chr5:177052123-177057222	Weak transcription Strong transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177044400-177061800	Weak transcription	Small Intestine	intestine
2	chr5:177046400-177058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:177046600-177068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:177046600-177069200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:177046600-177069600	Weak transcription	Esophagus	oesophagus
6	chr5:177046800-177058800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:177046800-177060200	Weak transcription	Brain Angular Gyrus	brain
8	chr5:177046800-177060800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:177046800-177065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:177047000-177057200	Weak transcription	NHDF-Ad	bronchial
12	chr5:177047000-177058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177047000-177079000	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:177047200-177060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:177047200-177061000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:177047200-177064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:177047200-177070800	Weak transcription	Pancreas	Pancrea
18	chr5:177047400-177059600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:177047400-177075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:177047800-177057400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:177047800-177059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:177047800-177059400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:177047800-177060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:177047800-177068200	Weak transcription	Fetal Intestine Large	intestine
25	chr5:177047800-177069000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:177047800-177080200	Weak transcription	Primary B cells from cord blood	blood
27	chr5:177048000-177061200	Weak transcription	Brain Germinal Matrix	brain
28	chr5:177048000-177069000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:177048400-177058800	Weak transcription	Thymus	Thymus
30	chr5:177048400-177066800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:177048800-177063200	Weak transcription	Fetal Brain Female	brain
32	chr5:177048800-177083600	Weak transcription	Fetal Lung	lung
33	chr5:177049400-177060800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:177050000-177058800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:177051600-177069000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:177051800-177057200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:177051800-177058800	Weak transcription	Aorta	Aorta
38	chr5:177051800-177058800	Weak transcription	Lung	lung
39	chr5:177051800-177080200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:177052000-177083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:177052000-177085600	Weak transcription	Gastric	stomach
42	chr5:177052200-177070000	Weak transcription	Primary T cells from cord blood	blood
43	chr5:177052400-177065200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:177052800-177060400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:177052800-177060400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:177052800-177060800	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:177052800-177068200	Weak transcription	Spleen	Spleen
48	chr5:177052800-177070200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:177052800-177070200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:177052800-177070400	Weak transcription	Adipose Nuclei	Adipose

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