Variant report

Variant	rs2934948
Chromosome Location	chr1:183975559-183975560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095320	0.83[EUR][1000 genomes]
rs13253498	1.00[AFR][1000 genomes]
rs13262224	1.00[AFR][1000 genomes]
rs28512235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28689187	1.00[AFR][1000 genomes]
rs4961004	1.00[AFR][1000 genomes]
rs6468571	1.00[AFR][1000 genomes]
rs6468610	1.00[AFR][1000 genomes]
rs6468611	1.00[AFR][1000 genomes]
rs6986314	1.00[AFR][1000 genomes]
rs7002729	1.00[AFR][1000 genomes]
rs7003658	1.00[AFR][1000 genomes]
rs7825717	1.00[AFR][1000 genomes]
rs7825908	1.00[AFR][1000 genomes]
rs7829765	1.00[AFR][1000 genomes]
rs7845923	1.00[AFR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183971600-183977600	Weak transcription	Gastric	stomach
2	chr1:183971600-183978800	Weak transcription	Right Ventricle	heart
3	chr1:183972400-183983000	Weak transcription	NHDF-Ad	bronchial
4	chr1:183972600-183975800	Weak transcription	Left Ventricle	heart
5	chr1:183972600-183976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:183972600-183980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:183972600-183987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:183973800-183975600	Enhancers	K562	blood
9	chr1:183974200-183975600	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:183974200-183977000	Enhancers	Brain Substantia Nigra	brain
11	chr1:183974600-183976000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:183974600-183979400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:183974800-183981600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:183975000-183976200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:183975000-183976200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:183975000-183978600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:183975000-183980000	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:183975200-183981600	Weak transcription	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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