Variant report

Variant	rs1822487
Chromosome Location	chr5:112604611-112604612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10043783	0.86[CHB][hapmap]
rs10053052	0.86[CHB][hapmap]
rs10053157	0.86[CHB][hapmap]
rs10067046	1.00[YRI][hapmap]
rs10519341	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11952758	0.86[CHB][hapmap]
rs13354840	0.86[CHB][hapmap]
rs17135473	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17135525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17135601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17135607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17135615	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17135618	0.86[CHB][hapmap]
rs17376277	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1822494	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2222145	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2900070	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3843500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs41420244	1.00[CEU][hapmap]
rs41459745	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs589147	1.00[CEU][hapmap]
rs59073951	0.82[EUR][1000 genomes]
rs6871668	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7705430	0.86[CHB][hapmap]
rs7709818	0.86[CHB][hapmap]
rs7722421	0.86[CHB][hapmap]
rs882755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:112599800-112604800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112600200-112604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112600200-112605000	Weak transcription	NH-A	brain
7	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
8	chr5:112600400-112605200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:112600800-112605000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:112600800-112607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:112600800-112607600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:112600800-112608000	Enhancers	Ovary	ovary
13	chr5:112600800-112610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:112600800-112610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:112601000-112606200	Enhancers	Right Atrium	heart
16	chr5:112601000-112612400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:112601200-112605000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:112601200-112605800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:112601400-112611200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:112602000-112605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:112602200-112606600	Weak transcription	Fetal Lung	lung
22	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:112602600-112609800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:112603000-112604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:112603000-112606800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:112603000-112606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:112603000-112607800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112603000-112608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112603000-112611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:112603200-112605200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112603200-112610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:112603400-112604800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:112603400-112608000	Enhancers	HMEC	breast
35	chr5:112603400-112608200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:112603400-112608200	Weak transcription	Adipose Nuclei	Adipose
37	chr5:112603800-112605000	Weak transcription	Liver	Liver
38	chr5:112603800-112612200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:112604000-112605000	Weak transcription	Fetal Heart	heart
40	chr5:112604000-112606000	Weak transcription	Left Ventricle	heart
41	chr5:112604000-112606800	Weak transcription	Esophagus	oesophagus
42	chr5:112604000-112607200	Enhancers	NHEK	skin
43	chr5:112604000-112607600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:112604200-112605000	Weak transcription	HUVEC	blood vessel
45	chr5:112604200-112609600	Weak transcription	Right Ventricle	heart
46	chr5:112604200-112610400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:112604200-112610600	Weak transcription	Psoas Muscle	Psoas
48	chr5:112604400-112607000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr5:112604400-112607400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:112604400-112612600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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