Variant report

Variant	rs506082
Chromosome Location	chr1:85899215-85899216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1001604	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10489513	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161607	0.88[EUR][1000 genomes]
rs11161611	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1146379	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12044537	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047422	0.88[EUR][1000 genomes]
rs12124170	0.80[EUR][1000 genomes]
rs12125557	0.85[EUR][1000 genomes]
rs12140103	0.87[EUR][1000 genomes]
rs1261681	0.81[AFR][1000 genomes]
rs1554597	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1884139	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2011825	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2012683	0.87[EUR][1000 genomes]
rs2177461	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2207368	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2300637	0.80[EUR][1000 genomes]
rs233047	0.80[EUR][1000 genomes]
rs233050	0.86[EUR][1000 genomes]
rs233053	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233054	0.86[EUR][1000 genomes]
rs233055	0.91[ASN][1000 genomes]
rs233061	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233066	0.80[EUR][1000 genomes]
rs233067	0.80[EUR][1000 genomes]
rs233068	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233072	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233093	0.80[EUR][1000 genomes]
rs233095	0.80[EUR][1000 genomes]
rs233097	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233099	0.80[EUR][1000 genomes]
rs233109	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233112	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233118	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233124	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233133	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2389948	0.81[AFR][1000 genomes]
rs2892888	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3949301	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4949900	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs539714	0.85[AFR][1000 genomes]
rs600098	0.81[AFR][1000 genomes]
rs6576763	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576764	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6576765	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576766	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576767	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6657817	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6671599	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6672870	0.84[AFR][1000 genomes]
rs6704103	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67611930	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72724606	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7525786	0.81[AMR][1000 genomes]
rs997251	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85874000-85903800	Weak transcription	NHLF	lung
2	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:85874400-85903600	Weak transcription	HepG2	liver
4	chr1:85874400-85904200	Weak transcription	NH-A	brain
5	chr1:85886400-85903800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
7	chr1:85886800-85903800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:85887600-85902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85887600-85903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85890400-85902200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:85892200-85906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:85893800-85906200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:85894400-85903600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:85894600-85903600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:85894600-85903800	Weak transcription	HUVEC	blood vessel
17	chr1:85894600-85904200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:85896400-85899400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:85897000-85899400	Strong transcription	HSMM	muscle
20	chr1:85897000-85904200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:85897400-85900400	Weak transcription	Fetal Brain Female	brain
22	chr1:85897800-85904200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:85897800-85904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:85898000-85902200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:85898200-85903600	Weak transcription	Liver	Liver
26	chr1:85899200-85902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:85899200-85902200	Weak transcription	Osteobl	bone
28	chr1:85899200-85903600	Weak transcription	NHDF-Ad	bronchial
29	chr1:85899200-85914800	Weak transcription	Esophagus	oesophagus

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