Variant report

Variant	rs1123858
Chromosome Location	chr7:28055691-28055692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10486575	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17156137	0.89[ASN][1000 genomes]
rs17156218	0.93[ASN][1000 genomes]
rs17156240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17156282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57480840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57661426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59980843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28033200-28057000	Weak transcription	HMEC	breast
2	chr7:28035200-28057000	Weak transcription	Osteobl	bone
3	chr7:28035800-28058400	Weak transcription	Primary T cells from cord blood	blood
4	chr7:28038600-28058800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:28045400-28056400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:28045400-28057600	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:28045400-28060000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:28045400-28076200	Weak transcription	Gastric	stomach
9	chr7:28045600-28057000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:28045600-28057000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:28045600-28060000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:28046000-28057000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:28046000-28058800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:28046000-28060000	Weak transcription	Ovary	ovary
15	chr7:28048000-28057000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:28052400-28055800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:28052400-28056000	Weak transcription	Esophagus	oesophagus
18	chr7:28052400-28057800	Weak transcription	Lung	lung
19	chr7:28052400-28060000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:28052800-28055800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:28053600-28056600	Weak transcription	NHDF-Ad	bronchial
22	chr7:28053800-28057200	Weak transcription	A549	lung
23	chr7:28054400-28055800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:28054400-28056000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:28054400-28057800	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:28054600-28059800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:28054600-28059800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:28054600-28060200	Weak transcription	Fetal Brain Female	brain
29	chr7:28054800-28056400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:28054800-28059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:28054800-28059800	Weak transcription	Fetal Stomach	stomach
32	chr7:28054800-28062000	Enhancers	Colon Smooth Muscle	Colon
33	chr7:28054800-28073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:28055000-28059800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:28055200-28056400	Enhancers	Left Ventricle	heart
36	chr7:28055200-28056400	Enhancers	Right Ventricle	heart
37	chr7:28055400-28055800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:28055400-28056000	Enhancers	Psoas Muscle	Psoas
39	chr7:28055400-28056200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:28055400-28056200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:28055400-28056200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:28055400-28056200	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:28055400-28056200	Enhancers	Brain Substantia Nigra	brain
44	chr7:28055400-28056200	Strong transcription	Spleen	Spleen
45	chr7:28055400-28056400	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:28055400-28056400	Enhancers	Right Atrium	heart
47	chr7:28055400-28056800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:28055400-28057200	Enhancers	Fetal Heart	heart
49	chr7:28055400-28058800	Strong transcription	Primary B cells from cord blood	blood
50	chr7:28055400-28059600	Strong transcription	Monocytes-CD14+_RO01746	blood

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