Variant report

Variant	rs2220621
Chromosome Location	chr5:124886629-124886630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10076374	0.96[EUR][1000 genomes]
rs13157757	1.00[EUR][1000 genomes]
rs13167694	0.85[EUR][1000 genomes]
rs13167816	0.85[EUR][1000 genomes]
rs1598817	0.93[EUR][1000 genomes]
rs59771425	0.85[EUR][1000 genomes]
rs60163815	0.81[EUR][1000 genomes]
rs60696888	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61202049	0.81[EUR][1000 genomes]
rs62373366	0.85[EUR][1000 genomes]
rs62373367	0.85[EUR][1000 genomes]
rs62373368	0.85[EUR][1000 genomes]
rs62373384	0.85[EUR][1000 genomes]
rs62373385	0.85[EUR][1000 genomes]
rs62373387	0.92[EUR][1000 genomes]
rs62373389	0.92[EUR][1000 genomes]
rs62373391	0.93[EUR][1000 genomes]
rs62373392	1.00[EUR][1000 genomes]
rs62373412	1.00[EUR][1000 genomes]
rs62373414	0.96[EUR][1000 genomes]
rs6899200	0.81[EUR][1000 genomes]
rs7710810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7717300	0.96[EUR][1000 genomes]
rs7728701	1.00[AMR][1000 genomes];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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124883200-124887600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:124884200-124886800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:124884200-124895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:124884800-124886800	Enhancers	Fetal Lung	lung
5	chr5:124884800-124887200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:124884800-124887200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:124884800-124887400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:124884800-124889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:124884800-124889000	Enhancers	NHLF	lung
10	chr5:124885000-124887200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:124885000-124887400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:124885000-124887400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:124885200-124887400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:124885200-124887400	Enhancers	NH-A	brain
15	chr5:124885200-124887800	Enhancers	NHDF-Ad	bronchial
16	chr5:124885200-124888200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:124885400-124887200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:124885400-124887200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:124885800-124889000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:124885800-124889000	Enhancers	HUVEC	blood vessel
21	chr5:124886000-124887400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:124886000-124889200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:124886200-124887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:124886200-124887400	Enhancers	Colonic Mucosa	Colon
25	chr5:124886400-124886800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:124886400-124886800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:124886400-124887000	Weak transcription	Fetal Kidney	kidney
28	chr5:124886400-124887200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:124886400-124887200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:124886400-124887200	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:124886400-124887200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:124886400-124887200	Weak transcription	HSMM	muscle
33	chr5:124886400-124888000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:124886400-124888400	Weak transcription	Osteobl	bone
35	chr5:124886600-124886800	Enhancers	Left Ventricle	heart
36	chr5:124886600-124887000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:124886600-124887000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:124886600-124887200	Weak transcription	Fetal Stomach	stomach

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