Variant report

Variant	rs3769314
Chromosome Location	chr2:173673900-173673901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12471745	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12474304	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478288	1.00[YRI][hapmap]
rs12618968	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs12622141	1.00[YRI][hapmap]
rs12622441	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16823271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194719	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769289	1.00[YRI][hapmap]
rs3769295	1.00[YRI][hapmap]
rs3769306	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173655600-173675600	Weak transcription	Fetal Heart	heart
2	chr2:173672200-173675600	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:173672200-173676200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:173672200-173681600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:173672200-173686600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:173673000-173678800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:173673200-173681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:173673600-173674200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:173673800-173674000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:173673800-173674000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:173673800-173674000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:173673800-173674200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:173673800-173674200	Enhancers	HMEC	breast
14	chr2:173673800-173674200	Enhancers	NHEK	skin

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

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