Variant report

Variant	rs62458782
Chromosome Location	chr7:69397641-69397642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10237984	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10950194	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12672441	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4718908	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62458788	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1017390	chr7:69339404-69406232	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538920	chr7:69339404-69406232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69377800-69402000	Weak transcription	Ovary	ovary
2	chr7:69386000-69399400	Weak transcription	Fetal Kidney	kidney
3	chr7:69387600-69409400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:69389800-69399600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:69391200-69398600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:69391200-69399200	Weak transcription	Fetal Lung	lung
7	chr7:69391600-69399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:69391800-69399000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
10	chr7:69392400-69399400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:69392800-69399600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:69393000-69399400	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:69393600-69400000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:69393800-69399200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:69393800-69399400	Weak transcription	Fetal Stomach	stomach
16	chr7:69393800-69399600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:69393800-69399600	Weak transcription	Pancreas	Pancrea
18	chr7:69393800-69403200	Weak transcription	Fetal Intestine Small	intestine
19	chr7:69394000-69399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:69394400-69399600	Weak transcription	GM12878-XiMat	blood
21	chr7:69394800-69398000	Enhancers	Fetal Thymus	thymus
22	chr7:69396200-69397800	Enhancers	Fetal Brain Male	brain
23	chr7:69396400-69397800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:69396800-69398600	Weak transcription	Brain Germinal Matrix	brain
25	chr7:69397000-69399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:69397000-69399200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:69397200-69398600	Weak transcription	Fetal Brain Female	brain
28	chr7:69397200-69398800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:69397200-69399000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:69397200-69399000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:69397200-69401800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:69397200-69402000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:69397600-69398600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:69397600-69398600	Weak transcription	Thymus	Thymus

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