Variant report

Variant	rs60477396
Chromosome Location	chr5:142486331-142486332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10044668	0.89[AMR][1000 genomes]
rs10065814	1.00[AFR][1000 genomes]
rs10155562	0.89[AMR][1000 genomes]
rs10214217	1.00[AFR][1000 genomes]
rs10477201	1.00[AFR][1000 genomes]
rs11167803	0.88[AFR][1000 genomes]
rs13356063	0.98[AFR][1000 genomes]
rs28688005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60473595	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61287676	1.00[AFR][1000 genomes]
rs9324901	0.89[AMR][1000 genomes]
rs9324906	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830511	chr5:142335447-142496694	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1025662	chr5:142345454-142498236	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522807	chr5:142417658-142529960	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142449400-142487600	Weak transcription	Liver	Liver
2	chr5:142450000-142497000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:142458000-142488400	Weak transcription	Gastric	stomach
4	chr5:142463200-142513600	Weak transcription	Thymus	Thymus
5	chr5:142474000-142488000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:142474000-142489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:142474000-142489800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:142474000-142490400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:142474200-142490000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:142474400-142488000	Weak transcription	Stomach Mucosa	stomach
11	chr5:142474400-142489600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:142474400-142527200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:142476200-142491400	Weak transcription	Esophagus	oesophagus
14	chr5:142479200-142503600	Weak transcription	Fetal Thymus	thymus
15	chr5:142480400-142487400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:142480400-142498600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:142480600-142486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:142480600-142500600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:142481000-142491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:142481000-142500600	Weak transcription	Dnd41	blood
21	chr5:142481600-142488000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:142481800-142489400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:142482000-142491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:142482000-142504200	Weak transcription	Aorta	Aorta
25	chr5:142482200-142486400	Weak transcription	Psoas Muscle	Psoas
26	chr5:142482200-142487800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:142482200-142488400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:142482200-142491400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:142482200-142491400	Weak transcription	Placenta	Placenta
30	chr5:142482200-142499000	Weak transcription	Fetal Stomach	stomach
31	chr5:142482400-142486400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:142482400-142486600	Weak transcription	Right Ventricle	heart
33	chr5:142482400-142488200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:142482400-142489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:142482400-142489800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:142482400-142496600	Weak transcription	Brain Substantia Nigra	brain
37	chr5:142482600-142489800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:142482600-142489800	Weak transcription	Brain Angular Gyrus	brain
39	chr5:142482600-142489800	Weak transcription	Osteobl	bone
40	chr5:142482600-142490200	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:142482600-142490400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:142482600-142490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:142482600-142496800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:142482600-142500200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:142482800-142490800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:142483000-142488200	Weak transcription	Primary T cells from cord blood	blood
47	chr5:142485200-142487000	Enhancers	Lung	lung
48	chr5:142485200-142487200	Enhancers	Right Atrium	heart
49	chr5:142485200-142487800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:142485200-142488400	Weak transcription	Small Intestine	intestine

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