Variant report

Variant	rs12241032
Chromosome Location	chr10:49444292-49444293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11101251	0.89[AMR][1000 genomes]
rs11101254	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs11101267	0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs11101270	0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11101273	0.90[AMR][1000 genomes]
rs11101274	0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12241104	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246849	0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12252490	0.89[AMR][1000 genomes]
rs12252932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12257349	0.80[YRI][hapmap];0.90[AMR][1000 genomes]
rs12257690	0.89[AMR][1000 genomes]
rs12258653	0.89[AMR][1000 genomes]
rs12268074	0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs9651393	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831864	chr10:49299274-49450299	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr10:49441600-49446800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr10:49442000-49446800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:49442000-49446800	Weak transcription	Brain Angular Gyrus	brain
4	chr10:49442000-49455200	Weak transcription	Right Atrium	heart
5	chr10:49443400-49444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:49443400-49444800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:49443400-49444800	Enhancers	Brain Substantia Nigra	brain
8	chr10:49443600-49444600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr10:49443600-49444800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:49443800-49444400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:49444000-49444400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:49444200-49444400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:49444200-49444400	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:49444200-49444600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:49444200-49444600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:49444200-49444600	Enhancers	Brain Hippocampus Middle	brain
17	chr10:49444200-49444800	Genic enhancers	Brain Anterior Caudate	brain
18	chr10:49444200-49444800	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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