Variant report

Variant	rs12110232
Chromosome Location	chr5:40910108-40910109
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10044717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10472348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473225	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12109603	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1530811	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2455306	0.84[YRI][hapmap]
rs4273640	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7717507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:40905600-40915000	Weak transcription	Gastric	stomach
3	chr5:40908800-40910600	Enhancers	HepG2	liver
4	chr5:40908800-40910800	Enhancers	Fetal Intestine Small	intestine
5	chr5:40908800-40916000	Active TSS	Stomach Smooth Muscle	stomach
6	chr5:40909000-40910200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr5:40909200-40910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:40909200-40910200	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:40909200-40910200	Enhancers	Fetal Heart	heart
10	chr5:40909200-40910600	Weak transcription	Fetal Intestine Large	intestine
11	chr5:40909200-40913200	Active TSS	Fetal Lung	lung
12	chr5:40909200-40916800	Active TSS	Right Atrium	heart
13	chr5:40909400-40910800	Active TSS	Fetal Kidney	kidney
14	chr5:40909400-40911800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:40909400-40912400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr5:40909400-40913600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr5:40909600-40910200	Active TSS	Fetal Stomach	stomach
18	chr5:40909600-40910600	Active TSS	Colon Smooth Muscle	Colon
19	chr5:40909600-40915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:40909600-40915000	Active TSS	Ovary	ovary
21	chr5:40909800-40910200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:40909800-40910600	Active TSS	Liver	Liver
23	chr5:40909800-40915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:40910000-40910400	Weak transcription	Left Ventricle	heart
25	chr5:40910000-40912000	Active TSS	Right Ventricle	heart
26	chr5:40910000-40915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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