Variant report

Variant	rs10444249
Chromosome Location	chr11:17788325-17788326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1012105	0.81[ASN][1000 genomes]
rs10444250	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10741732	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10741733	0.89[EUR][1000 genomes]
rs10766429	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10766432	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10766434	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548564	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548565	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17718902	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17792092	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2158478	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2299635	0.89[EUR][1000 genomes]
rs757514	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7941164	0.85[ASN][1000 genomes]
rs7943186	0.85[ASN][1000 genomes]
rs7946133	0.82[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs917032	0.86[MEX][hapmap]

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	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1038119	chr11:17744915-17794577	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv516767	chr11:17758587-17809724	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17772400-17790600	Weak transcription	Right Atrium	heart
2	chr11:17773400-17795600	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:17774000-17791600	Weak transcription	Pancreas	Pancrea
4	chr11:17783400-17791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:17784800-17788400	Enhancers	Fetal Brain Male	brain
6	chr11:17786200-17788400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:17787800-17796000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:17787800-17801400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:17788000-17791400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:17788000-17791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:17788000-17791600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:17788000-17795800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17788000-17811400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:17788200-17788400	Enhancers	Fetal Brain Female	brain
15	chr11:17788200-17793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:17788200-17793000	Weak transcription	Brain Germinal Matrix	brain
17	chr11:17788200-17793400	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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