Variant report

Variant	rs17726336
Chromosome Location	chr2:210234329-210234330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10497929	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10497930	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17235072	0.81[EUR][1000 genomes]
rs17675171	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34048155	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4435391	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56389925	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72991851	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72991855	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72991868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72991898	0.87[EUR][1000 genomes]
rs72993710	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72993758	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73006162	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7587613	0.87[EUR][1000 genomes]
rs7606091	0.87[EUR][1000 genomes]
rs992029	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.80[TSI][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	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	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	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
6	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210231000-210234600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:210231000-210234800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:210231000-210234800	Enhancers	HMEC	breast
4	chr2:210231600-210234600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:210231800-210234400	Enhancers	NH-A	brain
6	chr2:210231800-210235000	Enhancers	Hela-S3	cervix
7	chr2:210232000-210235000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:210232200-210234400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:210232800-210234400	Enhancers	Fetal Heart	heart
10	chr2:210233000-210234400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:210233200-210234400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:210233200-210234400	Enhancers	HSMM	muscle
13	chr2:210233600-210234600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:210233800-210234400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:210234000-210242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:210234200-210234400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:210234200-210234400	Enhancers	A549	lung
18	chr2:210234200-210234600	Enhancers	HUVEC	blood vessel
19	chr2:210234200-210234800	Enhancers	NHEK	skin

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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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