Variant report

Variant	rs11893504
Chromosome Location	chr2:72766892-72766893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11126376	0.90[EUR][1000 genomes]
rs11686713	0.90[EUR][1000 genomes]
rs12471312	0.90[EUR][1000 genomes]
rs12992973	0.92[EUR][1000 genomes]
rs12996319	0.84[EUR][1000 genomes]
rs13011477	0.90[EUR][1000 genomes]
rs1446887	0.84[EUR][1000 genomes]
rs1596930	0.91[EUR][1000 genomes]
rs1596931	0.91[EUR][1000 genomes]
rs1947118	0.92[EUR][1000 genomes]
rs4364045	0.90[EUR][1000 genomes]
rs4852294	0.83[EUR][1000 genomes]
rs4852873	0.91[EUR][1000 genomes]
rs4852874	0.90[EUR][1000 genomes]
rs4852879	0.91[EUR][1000 genomes]
rs4852883	0.83[EUR][1000 genomes]
rs7420667	0.92[EUR][1000 genomes]
rs7577238	0.84[EUR][1000 genomes]
rs7600273	0.83[EUR][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr2:72760400-72769800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:72761400-72783000	Weak transcription	Aorta	Aorta
3	chr2:72762600-72770200	Weak transcription	Fetal Heart	heart
4	chr2:72766400-72769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:72766400-72775600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:72766400-72782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:72766600-72773600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:72766600-72774600	Weak transcription	Fetal Lung	lung
9	chr2:72766600-72786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:72766800-72767600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:72766800-72768400	Weak transcription	K562	blood
12	chr2:72766800-72770000	Weak transcription	HUVEC	blood vessel
13	chr2:72766800-72770200	Weak transcription	HMEC	breast
14	chr2:72766800-72774000	Weak transcription	A549	lung
15	chr2:72766800-72781400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:72766800-72788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:72766800-72788600	Weak transcription	NH-A	brain
18	chr2:72766800-72789200	Weak transcription	NHEK	skin

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

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