Variant report

Variant	rs13389070
Chromosome Location	chr2:190024592-190024593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10165488	1.00[AMR][1000 genomes]
rs10166867	1.00[AMR][1000 genomes]
rs10168625	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176299	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180374	1.00[AMR][1000 genomes]
rs10182790	1.00[AMR][1000 genomes]
rs10182959	1.00[AMR][1000 genomes]
rs10190048	1.00[AMR][1000 genomes]
rs10193357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195176	1.00[AMR][1000 genomes]
rs10202897	1.00[AMR][1000 genomes]
rs10203522	1.00[AMR][1000 genomes]
rs10210715	1.00[AMR][1000 genomes]
rs13382234	1.00[AMR][1000 genomes]
rs13385828	1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13395385	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396958	1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401632	1.00[AMR][1000 genomes]
rs13405825	1.00[AMR][1000 genomes]
rs13407402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408124	1.00[AMR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13416565	1.00[AMR][1000 genomes]
rs13419998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420752	1.00[AMR][1000 genomes]
rs13421412	1.00[AMR][1000 genomes]
rs13423791	1.00[AMR][1000 genomes]
rs13429781	1.00[AMR][1000 genomes]
rs13430867	1.00[AMR][1000 genomes]
rs13431520	1.00[AMR][1000 genomes]
rs13433016	1.00[AMR][1000 genomes]
rs28712861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28763874	1.00[AMR][1000 genomes]
rs28763875	1.00[AMR][1000 genomes]
rs59459440	1.00[AMR][1000 genomes]
rs6712385	1.00[AMR][1000 genomes]
rs6732228	1.00[AMR][1000 genomes]
rs73981448	1.00[AMR][1000 genomes]
rs73981451	1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190015200-190026600	Weak transcription	Liver	Liver
2	chr2:190016000-190028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:190016200-190027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:190017600-190028800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:190018800-190029600	Weak transcription	Ovary	ovary
6	chr2:190019400-190027000	Weak transcription	Fetal Stomach	stomach
7	chr2:190019400-190028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:190019600-190025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:190021000-190026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:190021000-190028000	Weak transcription	Fetal Heart	heart
12	chr2:190021000-190031400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:190021400-190025200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:190021400-190025400	Enhancers	A549	lung
15	chr2:190022200-190025200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:190022200-190025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:190022800-190024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:190022800-190026200	Weak transcription	HSMM	muscle
19	chr2:190023200-190028400	Weak transcription	HUVEC	blood vessel
20	chr2:190023400-190026600	Weak transcription	NH-A	brain
21	chr2:190023800-190024600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:190023800-190026200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:190024000-190024600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:190024000-190026600	Weak transcription	HSMMtube	muscle
25	chr2:190024200-190024600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:190024200-190025000	Genic enhancers	NHDF-Ad	bronchial
27	chr2:190024200-190025200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:190024200-190027000	Weak transcription	Osteobl	bone
29	chr2:190024400-190024600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:190024400-190027600	Weak transcription	Fetal Lung	lung
31	chr2:190024400-190028000	Weak transcription	NHLF	lung

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