Variant report

Variant	rs38520
Chromosome Location	chr7:28038052-28038053
allele	A/G
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:16)

rs_ID	r²[population]
rs1023520	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs10248014	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs2106923	0.87[AMR][1000 genomes]
rs38499	0.87[AMR][1000 genomes]
rs38501	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs38505	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs38506	0.87[AMR][1000 genomes]
rs38508	0.87[AMR][1000 genomes]
rs38512	0.87[AMR][1000 genomes]
rs4722749	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs6462062	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs6955462	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs6974886	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs957763	0.87[AMR][1000 genomes]
rs957764	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs995367	1.00[CEU][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28017600-28042400	Weak transcription	Aorta	Aorta
2	chr7:28027200-28045800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:28027800-28039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:28030600-28038600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:28031000-28044800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:28031000-28044800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:28031200-28040200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:28031200-28054000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:28031600-28039400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:28032000-28045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:28032600-28041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:28032800-28039000	Enhancers	Brain Angular Gyrus	brain
13	chr7:28033000-28044600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:28033000-28049800	Weak transcription	Pancreas	Pancrea
15	chr7:28033000-28054400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:28033200-28039800	Weak transcription	Ovary	ovary
17	chr7:28033200-28040000	Enhancers	Fetal Heart	heart
18	chr7:28033200-28057000	Weak transcription	HMEC	breast
19	chr7:28033400-28041200	Weak transcription	Psoas Muscle	Psoas
20	chr7:28033400-28054200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:28034400-28039000	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:28034400-28039600	Enhancers	Colon Smooth Muscle	Colon
23	chr7:28034600-28044600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:28034800-28038400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:28034800-28039200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:28035000-28039400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:28035200-28041200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:28035200-28045000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:28035200-28045000	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:28035200-28045200	Weak transcription	NH-A	brain
31	chr7:28035200-28057000	Weak transcription	Osteobl	bone
32	chr7:28035600-28039600	Enhancers	Brain Substantia Nigra	brain
33	chr7:28035600-28045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:28035800-28038800	Enhancers	Brain Hippocampus Middle	brain
35	chr7:28035800-28045000	Weak transcription	NHDF-Ad	bronchial
36	chr7:28035800-28058400	Weak transcription	Primary T cells from cord blood	blood
37	chr7:28036200-28054000	Weak transcription	Fetal Stomach	stomach
38	chr7:28036400-28043800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:28036400-28044000	Weak transcription	Primary B cells from cord blood	blood
40	chr7:28036400-28052200	Weak transcription	Right Ventricle	heart
41	chr7:28036800-28038600	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:28036800-28039000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:28036800-28039400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:28037200-28045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:28037800-28038400	Weak transcription	Left Ventricle	heart
46	chr7:28037800-28038800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:28037800-28055400	Weak transcription	Spleen	Spleen
48	chr7:28038000-28038600	Enhancers	Adipose Nuclei	Adipose
49	chr7:28038000-28038600	Enhancers	Brain Anterior Caudate	brain

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