Variant report

Variant	rs11892923
Chromosome Location	chr2:210302220-210302221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11898015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28650191	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58195909	0.91[AFR][1000 genomes]
rs59649490	0.91[AFR][1000 genomes]
rs59999353	0.91[AFR][1000 genomes]
rs60457662	0.91[AFR][1000 genomes]
rs67965833	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73067004	0.91[AFR][1000 genomes]
rs73069087	0.91[AFR][1000 genomes]
rs73069088	0.91[AFR][1000 genomes]
rs73069096	0.91[AFR][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	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210293200-210304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:210293600-210302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:210297200-210306200	Weak transcription	Aorta	Aorta
4	chr2:210297200-210306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:210297400-210303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:210297400-210307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:210298200-210306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:210298200-210307200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:210298200-210309200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:210300400-210302400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:210300400-210305400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:210300400-210306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:210300400-210312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:210301400-210306200	Weak transcription	Fetal Brain Female	brain
15	chr2:210302000-210306200	Weak transcription	Fetal Brain Male	brain

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

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