Variant report

Variant	rs4667663
Chromosome Location	chr2:171726145-171726146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10166671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10181139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10202932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433255	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7558948	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7564761	0.86[YRI][hapmap]
rs7577421	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv508179	chr2:171708404-171736003	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171699000-171730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:171717000-171729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:171718200-171729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:171718400-171729200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:171718600-171729400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:171718600-171729600	Weak transcription	Right Atrium	heart
7	chr2:171725600-171726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:171725600-171726200	Enhancers	Primary T cells from cord blood	blood
9	chr2:171725600-171726400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:171725800-171729600	Weak transcription	HMEC	breast
11	chr2:171726000-171729600	Weak transcription	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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