Variant report

Variant	rs73683940
Chromosome Location	chr7:28066460-28066461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:28066207..28069550-chr7:28075402..28078570,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57516014	1.00[AMR][1000 genomes]
rs57781449	1.00[AMR][1000 genomes]
rs58890703	1.00[AMR][1000 genomes]
rs60825597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60912742	1.00[AMR][1000 genomes]
rs61474284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6975894	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302940	1.00[AMR][1000 genomes]
rs73683932	1.00[AMR][1000 genomes]
rs73683933	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683935	1.00[AMR][1000 genomes]
rs73683936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683937	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683941	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683949	1.00[AMR][1000 genomes]
rs73683952	1.00[AMR][1000 genomes]
rs73683973	1.00[AMR][1000 genomes]
rs73684087	1.00[AMR][1000 genomes]
rs73685831	1.00[AMR][1000 genomes]
rs7794172	1.00[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28045400-28076200	Weak transcription	Gastric	stomach
2	chr7:28054800-28073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:28055800-28072400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:28056200-28072400	Weak transcription	Spleen	Spleen
5	chr7:28056400-28072200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:28057800-28076200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:28058000-28076200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:28059000-28069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:28060000-28076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:28060200-28073800	Weak transcription	NHLF	lung
11	chr7:28060200-28076000	Weak transcription	HUVEC	blood vessel
12	chr7:28060400-28073800	Weak transcription	Liver	Liver
13	chr7:28060600-28068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:28060600-28075200	Weak transcription	HMEC	breast
15	chr7:28060600-28076600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:28060800-28072400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:28060800-28072800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:28060800-28073000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:28060800-28075600	Weak transcription	HSMMtube	muscle
20	chr7:28061000-28067800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:28061000-28069400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:28061400-28076000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:28062000-28076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:28062800-28067800	Weak transcription	Primary B cells from cord blood	blood
25	chr7:28063000-28076400	Enhancers	Colon Smooth Muscle	Colon
26	chr7:28064200-28068200	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:28064400-28066600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:28064600-28068200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:28064600-28072400	Weak transcription	Small Intestine	intestine
30	chr7:28064800-28066600	Weak transcription	A549	lung
31	chr7:28064800-28068000	Weak transcription	Osteobl	bone
32	chr7:28064800-28071200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:28064800-28072400	Weak transcription	Right Ventricle	heart
34	chr7:28064800-28076800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:28065000-28068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:28065400-28066600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:28065600-28066800	Enhancers	Fetal Muscle Leg	muscle
38	chr7:28065600-28067000	Enhancers	Left Ventricle	heart
39	chr7:28065800-28066600	Enhancers	Fetal Heart	heart
40	chr7:28066000-28066600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:28066000-28067600	Strong transcription	Fetal Stomach	stomach
42	chr7:28066200-28066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:28066200-28071400	Weak transcription	Primary T cells from cord blood	blood
44	chr7:28066400-28066600	Enhancers	Esophagus	oesophagus
45	chr7:28066400-28067000	Enhancers	NHDF-Ad	bronchial

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