Variant report

Variant	rs7986918
Chromosome Location	chr13:40109786-40109787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1040961	0.85[CEU][hapmap]
rs1570414	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1885760	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1885762	0.97[ASN][1000 genomes]
rs2324333	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324335	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4304917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941933	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4941935	0.97[ASN][1000 genomes]
rs4943674	0.94[ASN][1000 genomes]
rs6563720	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6563722	1.00[CEU][hapmap]
rs6563723	0.85[CEU][hapmap]
rs6563726	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7335390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986879	1.00[CEU][hapmap]
rs8000471	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912050	1.00[YRI][hapmap]
rs9315704	0.89[CHB][hapmap]
rs9532393	0.85[CEU][hapmap]
rs9548807	0.97[ASN][1000 genomes]
rs9566448	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs978135	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1050137	chr13:40090742-40118499	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40096800-40110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:40101600-40110400	Weak transcription	Psoas Muscle	Psoas
3	chr13:40102600-40110600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:40102800-40110400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:40102800-40110800	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:40102800-40111200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:40103200-40110800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:40106000-40113200	Weak transcription	Fetal Lung	lung
9	chr13:40106200-40110400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:40106200-40110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:40106200-40113200	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:40106400-40110200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:40106400-40110400	Weak transcription	Left Ventricle	heart
14	chr13:40106400-40110400	Weak transcription	Right Atrium	heart
15	chr13:40106400-40110400	Weak transcription	Right Ventricle	heart
16	chr13:40106400-40110400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr13:40106400-40110800	Weak transcription	NHLF	lung
18	chr13:40106400-40111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:40106400-40113400	Weak transcription	HSMM	muscle
20	chr13:40106400-40113600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:40106400-40116600	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:40106600-40110400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:40106600-40110600	Weak transcription	NHEK	skin
24	chr13:40106600-40113400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:40106600-40117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:40108400-40113200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:40108600-40110000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:40108600-40110000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:40109000-40112600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr13:40109000-40113600	Weak transcription	Fetal Brain Female	brain
33	chr13:40109000-40114000	Enhancers	NHDF-Ad	bronchial
34	chr13:40109200-40112200	Enhancers	Fetal Heart	heart
35	chr13:40109400-40110400	Weak transcription	Adipose Nuclei	Adipose
36	chr13:40109400-40111200	Weak transcription	Fetal Brain Male	brain
37	chr13:40109600-40110400	Weak transcription	Aorta	Aorta
38	chr13:40109600-40110600	Weak transcription	Ovary	ovary
39	chr13:40109600-40113000	Weak transcription	Osteobl	bone

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