Variant report

Variant	rs300052
Chromosome Location	chr5:37089840-37089841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37089091..37091586-chr5:37092682..37094967,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10043395	0.80[ASN][1000 genomes]
rs12153359	0.81[EUR][1000 genomes]
rs12520562	0.85[EUR][1000 genomes]
rs16903442	0.81[EUR][1000 genomes]
rs16903477	0.85[EUR][1000 genomes]
rs301862	0.80[ASN][1000 genomes]
rs301868	0.80[ASN][1000 genomes]
rs301871	0.80[ASN][1000 genomes]
rs301876	0.84[ASN][1000 genomes]
rs301877	0.84[ASN][1000 genomes]
rs301891	0.80[ASN][1000 genomes]
rs301907	0.84[ASN][1000 genomes]
rs301914	0.84[ASN][1000 genomes]
rs301915	0.84[ASN][1000 genomes]
rs3776588	0.81[EUR][1000 genomes]
rs3822471	0.81[EUR][1000 genomes]
rs3849756	0.85[EUR][1000 genomes]
rs6897283	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers 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	44 gene(s)	inside rSNPs	diseases
11	nsv964844	chr5:37080836-37107123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3327333	chr5:37086686-37094069	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37058600-37090000	Weak transcription	Right Ventricle	heart
2	chr5:37061200-37096800	Weak transcription	Psoas Muscle	Psoas
3	chr5:37061200-37103400	Weak transcription	Fetal Kidney	kidney
4	chr5:37064200-37105000	Weak transcription	Fetal Brain Male	brain
5	chr5:37064600-37104000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:37064800-37093600	Weak transcription	Brain Germinal Matrix	brain
7	chr5:37065000-37092600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:37065000-37092600	Weak transcription	Small Intestine	intestine
9	chr5:37065000-37097400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:37065000-37099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:37065000-37107600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:37065200-37090800	Weak transcription	Primary T cells from cord blood	blood
13	chr5:37065200-37103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:37065600-37102400	Weak transcription	Placenta	Placenta
15	chr5:37067000-37111400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:37072600-37097400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:37072600-37103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:37072800-37090200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:37072800-37090800	Weak transcription	Brain Anterior Caudate	brain
20	chr5:37073200-37094200	Weak transcription	Brain Substantia Nigra	brain
21	chr5:37073400-37103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:37078800-37097600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:37078800-37105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:37080000-37090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:37080000-37096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:37080000-37098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:37080000-37103800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:37080200-37112000	Weak transcription	Fetal Heart	heart
29	chr5:37080600-37102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:37080800-37091600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:37080800-37097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:37082000-37109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
34	chr5:37083600-37096200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:37085400-37103200	Weak transcription	Thymus	Thymus
36	chr5:37085600-37099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:37085600-37103400	Weak transcription	Left Ventricle	heart
38	chr5:37085800-37096200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:37086000-37091400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:37086000-37097000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:37087000-37104400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:37087000-37105200	Weak transcription	Lung	lung
43	chr5:37087000-37107000	Weak transcription	Pancreas	Pancrea
44	chr5:37087200-37094200	Enhancers	Fetal Intestine Large	intestine
45	chr5:37087200-37097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:37087200-37106800	Weak transcription	Hela-S3	cervix
47	chr5:37087200-37113600	Weak transcription	NH-A	brain
48	chr5:37087400-37092000	Weak transcription	Ovary	ovary
49	chr5:37087400-37094000	Weak transcription	Fetal Brain Female	brain
50	chr5:37087400-37094000	Weak transcription	Rectal Mucosa Donor 31	rectum

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