Variant report

Variant	rs2182780
Chromosome Location	chr13:40029618-40029619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1040962	0.84[CEU][hapmap]
rs2011719	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2012553	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148933	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182781	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340189	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4456371	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4499118	0.81[AMR][1000 genomes]
rs4569130	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941928	0.86[CEU][hapmap]
rs4943666	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563706	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6563707	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563708	0.92[CEU][hapmap];0.92[JPT][hapmap]
rs6563710	0.92[JPT][hapmap]
rs7319652	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7322023	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7326279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330999	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334760	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7337916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737645	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983763	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985325	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996782	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998182	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8000420	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315688	0.81[AMR][1000 genomes]
rs943568	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532382	0.85[CEU][hapmap]
rs9532383	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs9548779	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9566446	0.92[CEU][hapmap]
rs9576805	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576807	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9576810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576811	0.81[AMR][1000 genomes]
rs9576812	0.80[AMR][1000 genomes]
rs9603544	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1011	chr13:40008962-40034177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3346508	chr13:40027802-40029800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv2428792	chr13:40028048-40029641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
2	chr13:40025600-40033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:40026600-40033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:40027200-40033200	Weak transcription	HSMMtube	muscle
5	chr13:40027400-40033400	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:40027600-40030200	Weak transcription	Adipose Nuclei	Adipose
7	chr13:40028000-40029800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:40028000-40030200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:40028200-40029800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:40028200-40030000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:40028200-40030600	Enhancers	Fetal Heart	heart
12	chr13:40028200-40031200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:40028200-40032400	Weak transcription	Ovary	ovary
14	chr13:40028200-40032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:40028200-40033200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr13:40029200-40029800	Enhancers	Left Ventricle	heart
17	chr13:40029200-40029800	Enhancers	Right Atrium	heart
18	chr13:40029200-40030200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:40029400-40030000	Enhancers	Brain Substantia Nigra	brain
20	chr13:40029400-40030400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:40029400-40030600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:40029400-40030800	Enhancers	HUVEC	blood vessel
23	chr13:40029600-40029800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr13:40029600-40029800	Enhancers	Brain Anterior Caudate	brain
25	chr13:40029600-40029800	Enhancers	HSMM	muscle
26	chr13:40029600-40030400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:40029600-40030400	Enhancers	Fetal Lung	lung

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