Variant report

Variant	rs67004884
Chromosome Location	chr1:184654365-184654366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57802192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59666673	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60787651	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67337751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72637289	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72637291	1.00[ASN][1000 genomes]
rs7513425	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7537286	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542381	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184641400-184672800	Weak transcription	Gastric	stomach
2	chr1:184649400-184662800	Weak transcription	Osteobl	bone
3	chr1:184652200-184655000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:184653400-184654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:184653400-184654400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:184653400-184654800	Enhancers	Fetal Lung	lung
8	chr1:184653600-184654600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:184653800-184654400	Enhancers	Adipose Nuclei	Adipose
10	chr1:184653800-184654400	Enhancers	Brain Hippocampus Middle	brain
11	chr1:184653800-184654400	Enhancers	Pancreas	Pancrea
12	chr1:184653800-184654600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184653800-184656200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:184653800-184658600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:184653800-184662000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:184654000-184654400	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:184654000-184654400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:184654000-184654400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:184654000-184654600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:184654000-184654600	Weak transcription	Lung	lung
21	chr1:184654000-184654800	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:184654000-184662200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:184654000-184662200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:184654000-184662200	Weak transcription	Left Ventricle	heart
25	chr1:184654000-184662800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:184654200-184654400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:184654200-184654400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:184654200-184654400	Enhancers	Fetal Heart	heart
30	chr1:184654200-184654600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:184654200-184654600	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:184654200-184654800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:184654200-184662200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:184654200-184662200	Weak transcription	Psoas Muscle	Psoas
35	chr1:184654200-184662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:184654200-184662200	Weak transcription	NHDF-Ad	bronchial
37	chr1:184654200-184662400	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:184654200-184662600	Weak transcription	Ovary	ovary
39	chr1:184654200-184672000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
41	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus

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