Variant report

Variant	rs2851486
Chromosome Location	chr7:69070666-69070667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1003404	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10260553	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487947	0.87[ASN][1000 genomes]
rs12670658	0.92[ASN][1000 genomes]
rs1548748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140890	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1990444	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210602	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210605	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215354	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533436	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533437	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851493	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2851519	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851520	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34701787	0.87[ASN][1000 genomes]
rs41848	0.92[ASN][1000 genomes]
rs41854	0.92[ASN][1000 genomes]
rs41857	0.92[ASN][1000 genomes]
rs4717522	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548556	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569334	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628885	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633927	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953849	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs917617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69065400-69071600	Weak transcription	Aorta	Aorta
2	chr7:69066600-69071200	Enhancers	Fetal Lung	lung
3	chr7:69066600-69079600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:69066800-69070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:69066800-69072000	Enhancers	Fetal Brain Male	brain
6	chr7:69066800-69073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:69066800-69084600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:69067000-69070800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:69067000-69073000	Weak transcription	Psoas Muscle	Psoas
10	chr7:69067400-69070800	Flanking Active TSS	GM12878-XiMat	blood
11	chr7:69067600-69070800	Enhancers	Brain Anterior Caudate	brain
12	chr7:69068000-69072600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:69068200-69071200	Enhancers	Fetal Brain Female	brain
14	chr7:69068200-69074800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:69068800-69071000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:69068800-69073600	Weak transcription	Fetal Kidney	kidney
17	chr7:69069200-69070800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:69069200-69074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:69069200-69075600	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:69069600-69075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:69069800-69071000	Enhancers	Dnd41	blood
22	chr7:69069800-69071400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:69069800-69074800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:69069800-69075200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:69070200-69071000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:69070200-69077600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:69070400-69070800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:69070400-69071000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:69070400-69071000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:69070600-69070800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:69070600-69071400	Enhancers	Brain Germinal Matrix	brain
32	chr7:69070600-69073000	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:69070600-69074000	Weak transcription	Fetal Stomach	stomach
34	chr7:69070600-69074000	Weak transcription	Ovary	ovary
35	chr7:69070600-69075000	Weak transcription	Adipose Nuclei	Adipose
36	chr7:69070600-69075000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:69070600-69077800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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