Variant report

Variant	rs72632993
Chromosome Location	chr11:17795089-17795090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17794271..17797051-chr11:17798441..17802132,3	K562	blood:

Variant related genes	Relation type
ENSG00000129159	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72632994	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7946133	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17773400-17795600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:17787800-17796000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17787800-17801400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:17788000-17795800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:17788000-17811400	Weak transcription	Brain Anterior Caudate	brain
6	chr11:17788400-17802000	Weak transcription	Fetal Brain Male	brain
7	chr11:17792000-17796800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:17792000-17815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:17792000-17818400	Weak transcription	Right Atrium	heart
10	chr11:17792200-17803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:17792400-17795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:17792400-17795400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:17792400-17795600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:17792600-17798400	Strong transcription	Fetal Brain Female	brain
15	chr11:17793000-17796800	Strong transcription	Brain Germinal Matrix	brain
16	chr11:17793200-17795400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:17793200-17809800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:17793800-17795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:17794400-17795600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:17794800-17795200	Weak transcription	HepG2	liver

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