Variant report

Variant	rs2208943
Chromosome Location	chr13:80251200-80251201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12430226	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1475797	1.00[YRI][hapmap]
rs1577416	1.00[YRI][hapmap]
rs17071512	1.00[YRI][hapmap]
rs17071545	1.00[YRI][hapmap]
rs1932197	0.82[ASN][1000 genomes]
rs2181432	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2208936	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208938	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2329126	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2760105	1.00[YRI][hapmap]
rs2783119	1.00[YRI][hapmap]
rs2876742	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2876746	0.85[EUR][1000 genomes]
rs2876747	0.86[EUR][1000 genomes]
rs3920578	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141825	0.81[ASN][1000 genomes]
rs4141826	0.87[EUR][1000 genomes]
rs4885647	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885649	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4885652	0.86[EUR][1000 genomes]
rs4885653	0.86[EUR][1000 genomes]
rs4885655	0.86[EUR][1000 genomes]
rs6563129	0.89[EUR][1000 genomes]
rs7338530	1.00[YRI][hapmap]
rs767778	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7994255	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7994620	0.86[EUR][1000 genomes]
rs9318645	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9318647	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9318650	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318651	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530940	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530941	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530942	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9530943	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9530944	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545154	0.85[ASN][1000 genomes]
rs9545155	0.85[ASN][1000 genomes]
rs9545158	0.86[ASN][1000 genomes]
rs9545159	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9545160	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9545166	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574450	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574452	0.86[EUR][1000 genomes]
rs9574455	0.86[EUR][1000 genomes]
rs9601256	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9601258	0.85[EUR][1000 genomes]
rs9805769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900589	chr13:80250511-80310295	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80238600-80255000	Weak transcription	Psoas Muscle	Psoas
2	chr13:80246600-80260600	Weak transcription	Fetal Lung	lung
3	chr13:80248000-80254800	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:80248200-80252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:80248600-80252400	Weak transcription	HSMMtube	muscle
6	chr13:80249000-80251400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:80249200-80253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:80249800-80252200	Weak transcription	HMEC	breast
9	chr13:80250000-80253400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:80250400-80251400	Enhancers	Fetal Intestine Large	intestine
11	chr13:80250400-80252800	Enhancers	Fetal Intestine Small	intestine
12	chr13:80250600-80252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:80250600-80255200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:80250800-80252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:80250800-80252600	Weak transcription	NHEK	skin
16	chr13:80251000-80252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:80251200-80251400	Enhancers	Duodenum Mucosa	Duodenum
18	chr13:80251200-80252200	Enhancers	Fetal Stomach	stomach

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