Variant report

Variant	rs7513126
Chromosome Location	chr1:210674575-210674576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11119524	0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11119525	0.81[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11802275	0.85[ASN][1000 genomes]
rs12021963	0.80[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12034655	0.87[ASN][1000 genomes]
rs12042142	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12239285	0.81[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12569120	0.81[JPT][hapmap]
rs4845036	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675248	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs6692361	0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs6697873	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7354945	0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs74156189	0.83[AFR][1000 genomes]
rs74156196	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7534700	0.81[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.84[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	nsv873147	chr1:210665583-210696806	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 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	chr1:210653800-210678800	Weak transcription	HSMM	muscle
2	chr1:210670200-210678800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210672400-210675200	Enhancers	HSMMtube	muscle
4	chr1:210673200-210678800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:210673600-210675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:210673600-210679200	Weak transcription	Right Ventricle	heart
7	chr1:210674000-210675000	Enhancers	Fetal Heart	heart
8	chr1:210674000-210678400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210674200-210674600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:210674400-210679000	Weak transcription	Aorta	Aorta
11	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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