Variant report

Variant	rs16829241
Chromosome Location	chr2:134532622-134532623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1037137	0.86[ASN][1000 genomes]
rs10496712	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12162298	0.85[AMR][1000 genomes]
rs12619884	0.82[EUR][1000 genomes]
rs1374400	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374402	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446736	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1446750	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1446751	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1446753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1596916	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1596917	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1596919	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16829308	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829326	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829360	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829441	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829478	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1867898	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2197605	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2874486	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2874496	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4101466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4954078	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56714278	0.80[EUR][1000 genomes]
rs57830740	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60358627	0.80[EUR][1000 genomes]
rs6430455	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6759873	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72843293	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs731972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921088	0.80[EUR][1000 genomes]
rs971177	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134524600-134537200	Weak transcription	NHLF	lung
2	chr2:134530600-134533000	Enhancers	Fetal Lung	lung
3	chr2:134530800-134533200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:134531000-134532800	Enhancers	Colon Smooth Muscle	Colon
5	chr2:134531000-134533000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:134531000-134533200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:134531200-134532800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:134531200-134532800	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:134531200-134532800	Enhancers	Fetal Heart	heart
10	chr2:134531200-134533000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:134531200-134533000	Enhancers	Brain Angular Gyrus	brain
12	chr2:134531200-134533000	Enhancers	Brain Substantia Nigra	brain
13	chr2:134531400-134532800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:134531400-134532800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:134531400-134533000	Enhancers	Adipose Nuclei	Adipose
16	chr2:134531400-134533000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:134531400-134533000	Enhancers	Fetal Brain Male	brain
18	chr2:134531400-134533000	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:134531600-134532800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:134531600-134532800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:134531600-134532800	Enhancers	Fetal Stomach	stomach
22	chr2:134531600-134532800	Enhancers	Left Ventricle	heart
23	chr2:134531600-134533000	Enhancers	Fetal Muscle Leg	muscle
24	chr2:134531800-134533000	Enhancers	Fetal Brain Female	brain
25	chr2:134531800-134533000	Enhancers	Ovary	ovary
26	chr2:134532000-134532800	Enhancers	Right Atrium	heart
27	chr2:134532000-134532800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr2:134532000-134533000	Enhancers	Aorta	Aorta
29	chr2:134532000-134533000	Enhancers	Esophagus	oesophagus
30	chr2:134532200-134532800	Enhancers	Liver	Liver
31	chr2:134532200-134537000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:134532400-134532800	Enhancers	Gastric	stomach
33	chr2:134532400-134532800	Enhancers	Right Ventricle	heart
34	chr2:134532400-134533000	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:134532400-134534800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:134532400-134535000	Weak transcription	Osteobl	bone
37	chr2:134532600-134532800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr2:134532600-134533000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:134532600-134537400	Weak transcription	NH-A	brain

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