Variant report

Variant	rs531299962
Chromosome Location	chr1:62766379-62766380
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3320078	chr1:62765222-62770871	Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3320079	chr1:62765252-62770865	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3320077	chr1:62765307-62770822	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3320080	chr1:62765307-62770822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62759800-62770800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:62761800-62767200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:62762000-62767000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:62762200-62767200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:62762200-62773200	Weak transcription	Fetal Lung	lung
7	chr1:62764800-62768000	Enhancers	Pancreas	Pancrea
8	chr1:62765000-62766400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:62765000-62766400	Enhancers	Fetal Kidney	kidney
10	chr1:62765000-62766400	Enhancers	Left Ventricle	heart
11	chr1:62765000-62766400	Enhancers	Stomach Mucosa	stomach
12	chr1:62765000-62766400	Enhancers	HSMM	muscle
13	chr1:62765000-62767000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:62765000-62767600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:62765000-62768000	Enhancers	Fetal Stomach	stomach
16	chr1:62765200-62766400	Enhancers	Brain Anterior Caudate	brain
17	chr1:62765200-62766400	Enhancers	HSMMtube	muscle
18	chr1:62765200-62766600	Enhancers	Brain Hippocampus Middle	brain
19	chr1:62765200-62767600	Genic enhancers	HepG2	liver
20	chr1:62765600-62766800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:62765600-62766800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:62765600-62767000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr1:62765600-62767800	Enhancers	Brain Substantia Nigra	brain
24	chr1:62765800-62766600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:62765800-62767000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:62766000-62766400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:62766000-62766800	Enhancers	Brain Angular Gyrus	brain
28	chr1:62766000-62767000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr1:62766000-62768600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:62766000-62770000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:62766000-62770200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:62766200-62766600	Weak transcription	Gastric	stomach
33	chr1:62766200-62767800	Weak transcription	Fetal Heart	heart

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