Variant report

Variant	rs59500330
Chromosome Location	chr7:140310407-140310408
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57916123	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500418	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140267800-140326000	Weak transcription	Gastric	stomach
2	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
3	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
4	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
5	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
7	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:140303800-140310800	Enhancers	NHDF-Ad	bronchial
9	chr7:140304200-140312200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:140305400-140310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:140305400-140311200	Genic enhancers	Fetal Muscle Leg	muscle
12	chr7:140305600-140314200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:140307600-140326000	Weak transcription	Spleen	Spleen
14	chr7:140307800-140310600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:140307800-140310600	Weak transcription	Left Ventricle	heart
16	chr7:140307800-140311400	Weak transcription	HSMMtube	muscle
17	chr7:140307800-140316800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:140307800-140320400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:140308000-140311400	Weak transcription	HMEC	breast
20	chr7:140308000-140311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:140308000-140320400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:140308200-140310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:140308400-140324000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:140308800-140310600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:140308800-140310600	Weak transcription	Lung	lung
26	chr7:140308800-140311000	Weak transcription	Fetal Stomach	stomach
27	chr7:140308800-140314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:140308800-140322800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:140308800-140323800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:140309000-140313600	Weak transcription	Brain Germinal Matrix	brain
31	chr7:140309200-140310600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:140309400-140310800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:140309400-140310800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:140309400-140311000	Enhancers	Adipose Nuclei	Adipose
35	chr7:140309400-140311600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:140309400-140312200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:140309600-140311000	Enhancers	NH-A	brain
38	chr7:140309600-140311000	Enhancers	NHLF	lung
39	chr7:140309600-140311400	Enhancers	Fetal Muscle Trunk	muscle
40	chr7:140309800-140310800	Enhancers	Osteobl	bone
41	chr7:140309800-140311200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:140309800-140312200	Enhancers	HSMM	muscle
43	chr7:140309800-140312600	Enhancers	Placenta	Placenta
44	chr7:140310000-140311200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:140310000-140311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:140310200-140310800	Enhancers	A549	lung
47	chr7:140310200-140311200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:140310400-140310800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr7:140310400-140310800	Enhancers	Fetal Lung	lung
50	chr7:140310400-140311000	Enhancers	Ovary	ovary

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