Variant report

Variant	rs74076479
Chromosome Location	chr1:62766860-62766861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:62766532-62766947	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
RNU6-371P	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10493319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123324	0.83[EUR][1000 genomes]
rs17123341	0.95[EUR][1000 genomes]
rs17123348	0.95[EUR][1000 genomes]
rs17123399	0.99[AFR][1000 genomes]
rs17123400	0.99[AFR][1000 genomes]
rs17123402	0.99[AFR][1000 genomes]
rs17123405	0.99[AFR][1000 genomes]
rs17123415	0.99[AFR][1000 genomes]
rs17123418	0.99[AFR][1000 genomes]
rs17123422	0.99[AFR][1000 genomes]
rs55948475	0.99[AFR][1000 genomes]
rs58548699	0.95[EUR][1000 genomes]
rs74076464	0.95[EUR][1000 genomes]
rs74076477	0.85[EUR][1000 genomes]
rs7521016	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv520333	chr1:62766527-62769887	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 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	chr1:62765000-62767000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:62765000-62767600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:62765000-62768000	Enhancers	Fetal Stomach	stomach
11	chr1:62765200-62767600	Genic enhancers	HepG2	liver
12	chr1:62765600-62767000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr1:62765600-62767800	Enhancers	Brain Substantia Nigra	brain
14	chr1:62765800-62767000	Enhancers	Colon Smooth Muscle	Colon
15	chr1:62766000-62767000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
16	chr1:62766000-62768600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:62766000-62770000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:62766000-62770200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:62766200-62767800	Weak transcription	Fetal Heart	heart
20	chr1:62766400-62767600	Weak transcription	Fetal Kidney	kidney
21	chr1:62766600-62767000	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:62766600-62767200	Bivalent Enhancer	Brain Hippocampus Middle	brain
23	chr1:62766800-62767000	Bivalent Enhancer	Brain Angular Gyrus	brain
24	chr1:62766800-62767200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
25	chr1:62766800-62768000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:62766800-62770200	Weak transcription	Gastric	stomach

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