Variant report

Variant	rs10043227
Chromosome Location	chr5:127628634-127628635
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10036747	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10037688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10040006	1.00[AMR][1000 genomes]
rs10042349	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043236	0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10043920	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070948	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164175	0.87[AMR][1000 genomes]
rs17839648	1.00[AMR][1000 genomes]
rs28472987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28763936	1.00[AMR][1000 genomes]
rs32212	0.90[YRI][hapmap]
rs39936	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs39937	0.82[YRI][hapmap]
rs60488256	1.00[AMR][1000 genomes]
rs60681156	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6871353	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345203	0.87[AMR][1000 genomes]
rs73345215	0.87[AMR][1000 genomes]
rs7700608	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7704093	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7710624	1.00[AMR][1000 genomes]
rs7710775	1.00[AMR][1000 genomes]
rs7710856	0.85[AMR][1000 genomes]
rs7710992	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7711092	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs7720552	0.84[YRI][hapmap];1.00[AMR][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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:127605200-127628800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:127608000-127629600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
7	chr5:127614400-127635200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:127614600-127644800	Weak transcription	Ovary	ovary
9	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
10	chr5:127618000-127629400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:127618400-127629600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:127619400-127629400	Strong transcription	Placenta	Placenta
13	chr5:127620200-127639600	Weak transcription	Osteobl	bone
14	chr5:127622000-127628800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:127622400-127629000	Strong transcription	Fetal Stomach	stomach
16	chr5:127622800-127662000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:127623600-127628800	Strong transcription	Fetal Heart	heart
18	chr5:127624600-127635200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:127624600-127663600	Weak transcription	A549	lung
20	chr5:127624800-127644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:127624800-127648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:127625000-127635400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:127625000-127635800	Weak transcription	Fetal Lung	lung
24	chr5:127625000-127662200	Weak transcription	Fetal Intestine Large	intestine
25	chr5:127625400-127635200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:127625800-127635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127626000-127664400	Weak transcription	Right Ventricle	heart
28	chr5:127626200-127629200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:127626200-127635600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:127626200-127635800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:127626200-127636000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:127626200-127638000	Weak transcription	NH-A	brain
33	chr5:127626200-127640400	Weak transcription	Left Ventricle	heart
34	chr5:127626400-127635600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:127626400-127639000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:127626400-127639000	Weak transcription	NHEK	skin
37	chr5:127626600-127635200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:127626600-127664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:127627000-127629200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:127627400-127635200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:127627600-127635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:127627800-127628800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:127627800-127628800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr5:127627800-127635800	Weak transcription	HMEC	breast
45	chr5:127628000-127629000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:127628400-127635800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:127628600-127635000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:127628600-127635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:127628600-127635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:127628600-127635400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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