Variant report

Variant	rs6883243
Chromosome Location	chr5:124381506-124381507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10051837	1.00[ASN][1000 genomes]
rs10060665	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10067540	1.00[ASN][1000 genomes]
rs10069295	1.00[ASN][1000 genomes]
rs10069495	1.00[ASN][1000 genomes]
rs10070651	1.00[ASN][1000 genomes]
rs10070961	1.00[ASN][1000 genomes]
rs10071979	1.00[ASN][1000 genomes]
rs10072930	1.00[ASN][1000 genomes]
rs11950485	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13156954	0.84[EUR][1000 genomes]
rs13166517	0.81[EUR][1000 genomes]
rs13169162	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359584	1.00[ASN][1000 genomes]
rs28484892	1.00[ASN][1000 genomes]
rs28887500	1.00[ASN][1000 genomes]
rs34285348	0.81[EUR][1000 genomes]
rs34881137	0.81[EUR][1000 genomes]
rs35996109	0.84[EUR][1000 genomes]
rs36056892	0.81[EUR][1000 genomes]
rs4342331	0.81[EUR][1000 genomes]
rs4836143	0.81[EUR][1000 genomes]
rs56111606	1.00[ASN][1000 genomes]
rs57050857	1.00[ASN][1000 genomes]
rs57154044	0.84[EUR][1000 genomes]
rs60700802	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860106	1.00[ASN][1000 genomes]
rs6867459	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887240	1.00[ASN][1000 genomes]
rs71576804	0.93[EUR][1000 genomes]
rs72785245	1.00[ASN][1000 genomes]
rs72785247	1.00[ASN][1000 genomes]
rs72785252	1.00[ASN][1000 genomes]
rs73782570	1.00[ASN][1000 genomes]
rs7709555	0.81[EUR][1000 genomes]
rs9686495	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:124377600-124381800	Enhancers	NHDF-Ad	bronchial
3	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:124378400-124382200	Enhancers	HUVEC	blood vessel
6	chr5:124378600-124381600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:124378600-124383000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:124378800-124381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:124379000-124381600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:124379000-124388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:124379200-124382800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:124380000-124385600	Weak transcription	Stomach Mucosa	stomach
13	chr5:124380400-124382200	Enhancers	A549	lung
14	chr5:124380400-124382200	Enhancers	NH-A	brain
15	chr5:124380400-124384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:124380400-124384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:124380400-124385200	Weak transcription	Brain Anterior Caudate	brain
18	chr5:124380600-124381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:124380600-124381600	Weak transcription	NHEK	skin
20	chr5:124380600-124382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:124380600-124382600	Weak transcription	Left Ventricle	heart
22	chr5:124380600-124385000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:124380600-124388400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:124380800-124381800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:124380800-124382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:124380800-124382400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:124380800-124385000	Weak transcription	Osteobl	bone
28	chr5:124381000-124382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:124381200-124383600	Weak transcription	Fetal Kidney	kidney
30	chr5:124381400-124382200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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