Variant report

Variant	rs1424546
Chromosome Location	chr7:136638281-136638282
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10225215	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs10228048	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs10488599	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs10488600	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1111418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1158586	0.83[CHB][hapmap]
rs1364408	0.90[JPT][hapmap]
rs1378646	0.83[CHB][hapmap]
rs17168815	0.84[JPT][hapmap]
rs17168819	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2350782	0.95[JPT][hapmap]
rs4475425	0.81[CEU][hapmap]
rs6943656	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6945736	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs6952499	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6960707	0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6969811	0.80[JPT][hapmap]
rs7806357	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs960677	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr7:136623400-136641600	Weak transcription	Right Ventricle	heart
2	chr7:136623600-136641600	Weak transcription	Left Ventricle	heart
3	chr7:136633800-136641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:136634000-136638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:136635600-136641400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:136637000-136638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:136637200-136639800	Weak transcription	Fetal Heart	heart
8	chr7:136638000-136638800	Enhancers	NH-A	brain
9	chr7:136638000-136638800	Enhancers	Osteobl	bone
10	chr7:136638000-136639000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:136638000-136639000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:136638000-136639000	Enhancers	NHLF	lung
13	chr7:136638000-136641200	Enhancers	HUVEC	blood vessel
14	chr7:136638200-136638800	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:136638200-136639000	Enhancers	Colon Smooth Muscle	Colon

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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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