Variant report

Variant	rs5021641
Chromosome Location	chr13:75947071-75947072
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1325466	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408930	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1821127	0.97[ASN][1000 genomes]
rs2104418	0.93[EUR][1000 genomes]
rs2328940	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825441	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885286	0.96[EUR][1000 genomes]
rs6562886	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6562887	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321494	0.82[CHB][hapmap]
rs7330729	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983831	0.97[EUR][1000 genomes]
rs7991823	0.97[ASN][1000 genomes]
rs7992747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565154	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565157	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573529	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573532	1.00[ASN][1000 genomes]
rs9573533	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75910800-75947600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:75929600-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:75934800-75947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:75936600-75947600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:75936600-75947600	Weak transcription	Lung	lung
6	chr13:75940400-75947200	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:75940600-75947200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr13:75942000-75949600	Enhancers	Fetal Thymus	thymus
9	chr13:75942600-75952400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:75942800-75947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:75942800-75947200	Enhancers	Fetal Heart	heart
12	chr13:75942800-75947200	Weak transcription	Hela-S3	cervix
13	chr13:75942800-75949000	Weak transcription	GM12878-XiMat	blood
14	chr13:75943000-75947200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:75943000-75947200	Weak transcription	Fetal Lung	lung
16	chr13:75943000-75947600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:75943000-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:75944600-75947200	Weak transcription	Spleen	Spleen
19	chr13:75944800-75947200	Weak transcription	Right Atrium	heart
20	chr13:75944800-75947600	Weak transcription	Left Ventricle	heart
21	chr13:75945200-75947200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:75945600-75955600	Weak transcription	Right Ventricle	heart
23	chr13:75945800-75947600	Weak transcription	Psoas Muscle	Psoas
24	chr13:75946400-75948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:75946600-75947400	Enhancers	HepG2	liver
26	chr13:75946800-75947400	Active TSS	K562	blood
27	chr13:75946800-75947600	Enhancers	Osteobl	bone
28	chr13:75946800-75947800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:75946800-75948000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:75946800-75948000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:75946800-75948600	Enhancers	Liver	Liver
32	chr13:75947000-75947200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:75947000-75947200	Enhancers	Adipose Nuclei	Adipose
34	chr13:75947000-75947200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr13:75947000-75947400	Enhancers	Primary hematopoietic stem cells	blood
36	chr13:75947000-75947600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr13:75947000-75947600	Enhancers	HSMM	muscle
38	chr13:75947000-75947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:75947000-75947800	Enhancers	HMEC	breast
40	chr13:75947000-75948000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:75947000-75948000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:75947000-75948000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:75947000-75948000	Enhancers	HUVEC	blood vessel
44	chr13:75947000-75948600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:75947000-75949400	Enhancers	Ovary	ovary

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