Variant report

Variant	rs2364904
Chromosome Location	chr7:78923781-78923782
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1528266	0.90[AFR][1000 genomes]
rs4020434	1.00[ASN][1000 genomes]
rs4236602	0.90[AFR][1000 genomes]
rs57210884	1.00[AMR][1000 genomes]
rs57612867	1.00[AMR][1000 genomes]
rs58133441	1.00[AMR][1000 genomes]
rs59381582	1.00[AMR][1000 genomes]
rs59647672	1.00[AMR][1000 genomes]
rs6980419	0.90[AFR][1000 genomes]
rs7795675	1.00[AMR][1000 genomes]
rs7796743	1.00[AMR][1000 genomes]
rs9648981	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:78919800-78923800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:78919800-78923800	Enhancers	Osteobl	bone
3	chr7:78919800-78924000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:78919800-78924000	Enhancers	HMEC	breast
5	chr7:78919800-78924000	Enhancers	NHEK	skin
6	chr7:78920600-78924000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:78921600-78923800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:78922200-78923800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:78922200-78923800	Enhancers	Adipose Nuclei	Adipose
10	chr7:78922200-78923800	Enhancers	NHLF	lung
11	chr7:78922400-78924000	Enhancers	Stomach Mucosa	stomach
12	chr7:78922400-78925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:78922400-78929200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:78922800-78924000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:78922800-78924000	Enhancers	HepG2	liver
16	chr7:78923000-78923800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:78923000-78923800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:78923000-78923800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:78923000-78924000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:78923200-78923800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:78923200-78923800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:78923200-78923800	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:78923200-78930000	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:78923600-78923800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:78923600-78923800	Flanking Active TSS	A549	lung

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