Variant report

Variant	rs73378672
Chromosome Location	chr7:79807781-79807782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17153514	0.90[AFR][1000 genomes]
rs17153546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378647	0.90[AFR][1000 genomes]
rs73378654	0.90[AFR][1000 genomes]
rs73378656	0.90[AFR][1000 genomes]
rs73378659	0.95[AFR][1000 genomes]
rs73378663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378694	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79792800-79809000	Weak transcription	Fetal Kidney	kidney
3	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:79795600-79809000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:79796400-79816000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:79802400-79813200	Weak transcription	Placenta	Placenta
8	chr7:79802600-79809000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:79802600-79820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:79803200-79812000	Weak transcription	NHEK	skin
11	chr7:79803200-79812200	Weak transcription	Ovary	ovary
12	chr7:79803400-79810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:79803400-79811800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:79803400-79812000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:79804800-79813200	Weak transcription	Left Ventricle	heart
16	chr7:79805400-79809000	Weak transcription	Fetal Lung	lung
17	chr7:79806000-79810000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:79806000-79811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:79806000-79816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:79806600-79807800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:79806600-79807800	Enhancers	NHDF-Ad	bronchial
22	chr7:79806600-79810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:79806800-79810400	Enhancers	Brain Hippocampus Middle	brain
24	chr7:79806800-79810400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:79806800-79814800	Enhancers	Brain Substantia Nigra	brain
26	chr7:79807000-79808000	Enhancers	NHLF	lung
27	chr7:79807000-79810000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:79807200-79807800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:79807200-79808600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:79807200-79812000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:79807200-79812000	Weak transcription	A549	lung
32	chr7:79807200-79813200	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:79807200-79829200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:79807200-79833400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:79807400-79808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:79807400-79808600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:79807400-79808600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:79807400-79809000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:79807400-79809000	Weak transcription	Adipose Nuclei	Adipose
40	chr7:79807400-79809000	Weak transcription	Brain Angular Gyrus	brain
41	chr7:79807400-79809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:79807400-79809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:79807400-79810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:79807400-79812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:79807400-79812800	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:79807600-79808600	Weak transcription	Primary T cells from cord blood	blood
47	chr7:79807600-79808600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:79807600-79809000	Weak transcription	Brain Anterior Caudate	brain
49	chr7:79807600-79809800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:79807600-79810600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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