Variant report

Variant	rs60290055
Chromosome Location	chr5:37094215-37094216
allele	C/T
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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16903524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34161326	1.00[EUR][1000 genomes]
rs34243761	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56725398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57564262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58089157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58132646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58498167	1.00[AMR][1000 genomes]
rs59150742	1.00[AMR][1000 genomes]
rs60570427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61005381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61130125	1.00[AMR][1000 genomes]
rs61561054	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61732654	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863554	1.00[AMR][1000 genomes]
rs6887511	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066405	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73068410	1.00[AMR][1000 genomes]
rs73068415	1.00[AMR][1000 genomes]
rs73093847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095756	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7720731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727585	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728924	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37061200-37096800	Weak transcription	Psoas Muscle	Psoas
2	chr5:37061200-37103400	Weak transcription	Fetal Kidney	kidney
3	chr5:37064200-37105000	Weak transcription	Fetal Brain Male	brain
4	chr5:37064600-37104000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:37065000-37097400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:37065000-37099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:37065000-37107600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:37065200-37103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:37065600-37102400	Weak transcription	Placenta	Placenta
10	chr5:37067000-37111400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:37072600-37097400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:37072600-37103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:37073400-37103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:37078800-37097600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:37078800-37105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:37080000-37096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:37080000-37098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:37080000-37103800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:37080200-37112000	Weak transcription	Fetal Heart	heart
20	chr5:37080600-37102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:37080800-37097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:37082000-37109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
24	chr5:37083600-37096200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:37085400-37103200	Weak transcription	Thymus	Thymus
26	chr5:37085600-37099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:37085600-37103400	Weak transcription	Left Ventricle	heart
28	chr5:37085800-37096200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:37086000-37097000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:37087000-37104400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:37087000-37105200	Weak transcription	Lung	lung
32	chr5:37087000-37107000	Weak transcription	Pancreas	Pancrea
33	chr5:37087200-37097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:37087200-37106800	Weak transcription	Hela-S3	cervix
35	chr5:37087200-37113600	Weak transcription	NH-A	brain
36	chr5:37087400-37098200	Weak transcription	Aorta	Aorta
37	chr5:37087400-37102600	Weak transcription	HSMM	muscle
38	chr5:37087400-37103200	Weak transcription	Dnd41	blood
39	chr5:37087600-37094400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:37087600-37095200	Weak transcription	Fetal Lung	lung
41	chr5:37087600-37103200	Weak transcription	Fetal Thymus	thymus
42	chr5:37087600-37105000	Weak transcription	Osteobl	bone
43	chr5:37088600-37095200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:37088800-37096800	Weak transcription	Fetal Stomach	stomach
45	chr5:37088800-37103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:37089000-37095200	Weak transcription	Adipose Nuclei	Adipose
47	chr5:37090200-37094800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:37090800-37094400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:37091200-37102200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:37091400-37094400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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