Variant report

Variant	rs58817012
Chromosome Location	chr5:142401859-142401860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10044668	1.00[EUR][1000 genomes]
rs10045128	1.00[EUR][1000 genomes]
rs10051655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056044	1.00[EUR][1000 genomes]
rs10074187	1.00[EUR][1000 genomes]
rs10076583	1.00[EUR][1000 genomes]
rs10080138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10155562	1.00[EUR][1000 genomes]
rs10214217	1.00[EUR][1000 genomes]
rs10477199	1.00[EUR][1000 genomes]
rs10477202	1.00[EUR][1000 genomes]
rs12332305	1.00[EUR][1000 genomes]
rs13356063	1.00[EUR][1000 genomes]
rs2108645	1.00[EUR][1000 genomes]
rs28688005	1.00[EUR][1000 genomes]
rs7702357	1.00[EUR][1000 genomes]
rs9324902	1.00[EUR][1000 genomes]
rs9324906	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830375	chr5:141991792-142449956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv599925	chr5:142393562-142416115	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142382000-142402600	Weak transcription	Lung	lung
2	chr5:142383000-142402600	Weak transcription	Fetal Stomach	stomach
3	chr5:142383000-142402600	Weak transcription	Ovary	ovary
4	chr5:142384200-142402600	Weak transcription	Esophagus	oesophagus
5	chr5:142384400-142416600	Weak transcription	Pancreas	Pancrea
6	chr5:142386000-142402600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:142386600-142411600	Weak transcription	Stomach Mucosa	stomach
8	chr5:142388200-142402800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:142388600-142409600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:142388800-142402800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:142388800-142403000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:142388800-142403200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:142389000-142415800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:142389200-142402600	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:142389600-142402400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:142389600-142402800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:142389600-142403200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:142389800-142402400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:142389800-142402600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:142390000-142402600	Weak transcription	NHLF	lung
21	chr5:142390200-142420200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:142390400-142402800	Weak transcription	Brain Angular Gyrus	brain
23	chr5:142390600-142402400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:142390600-142402400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:142390600-142402600	Weak transcription	Adipose Nuclei	Adipose
26	chr5:142391600-142404600	Weak transcription	HSMM	muscle
27	chr5:142392000-142417400	Weak transcription	HepG2	liver
28	chr5:142393000-142409200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:142393600-142408200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:142393800-142403400	Weak transcription	Gastric	stomach
31	chr5:142394400-142402800	Weak transcription	Liver	Liver
32	chr5:142394600-142411000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:142395000-142409400	Weak transcription	Primary B cells from cord blood	blood
34	chr5:142395400-142402800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:142395400-142403000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:142395400-142403200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:142395400-142407400	Weak transcription	Fetal Intestine Large	intestine
38	chr5:142397000-142402800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:142397000-142431000	Weak transcription	Small Intestine	intestine
40	chr5:142397400-142402400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:142397600-142402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:142397800-142402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:142398200-142402600	Weak transcription	A549	lung
44	chr5:142399000-142409400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:142399200-142402600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:142399200-142410600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:142399600-142402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:142399600-142402200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:142399600-142402600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:142399600-142402600	Weak transcription	Fetal Lung	lung

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