Variant report

Variant	rs10496972
Chromosome Location	chr2:145823559-145823560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10928240	0.82[ASN][1000 genomes]
rs12616953	0.80[ASN][1000 genomes]
rs12618061	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691705	0.81[ASN][1000 genomes]
rs12988894	0.82[EUR][1000 genomes]
rs12990539	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990953	0.93[ASN][1000 genomes]
rs13028626	0.86[ASN][1000 genomes]
rs13033869	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16824386	0.88[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap]
rs1830319	0.86[ASN][1000 genomes]
rs1830321	0.81[ASN][1000 genomes]
rs1852681	0.82[EUR][1000 genomes]
rs1852684	0.81[ASN][1000 genomes]
rs2381685	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381686	0.86[ASN][1000 genomes]
rs2381687	0.82[ASN][1000 genomes]
rs34409381	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4662233	0.80[EUR][1000 genomes]
rs4662413	0.81[AMR][1000 genomes]
rs4662414	0.86[ASN][1000 genomes]
rs6725803	0.81[ASN][1000 genomes]
rs67431032	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7561039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145819200-145826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145821400-145825400	Enhancers	Fetal Lung	lung
3	chr2:145821400-145827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:145821800-145823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:145821800-145823600	Enhancers	Osteobl	bone
6	chr2:145822000-145825800	Enhancers	NHDF-Ad	bronchial
7	chr2:145822200-145823800	Enhancers	Brain Angular Gyrus	brain
8	chr2:145822200-145823800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:145822200-145824000	Enhancers	Brain Hippocampus Middle	brain
10	chr2:145822200-145824200	Enhancers	Adipose Nuclei	Adipose
11	chr2:145822200-145825000	Enhancers	Brain Substantia Nigra	brain
12	chr2:145822400-145823600	Weak transcription	Ovary	ovary
13	chr2:145822400-145824000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:145822600-145823600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:145822800-145824600	Enhancers	HSMM	muscle
16	chr2:145823000-145823800	Enhancers	Colon Smooth Muscle	Colon
17	chr2:145823000-145824600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:145823000-145824600	Enhancers	Fetal Stomach	stomach
19	chr2:145823000-145826200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:145823200-145824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:145823200-145825000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:145823400-145823800	Enhancers	Brain Anterior Caudate	brain
23	chr2:145823400-145823800	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:145823400-145824600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:145823400-145825200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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