Variant report

Variant	rs217596
Chromosome Location	chr7:14938983-14938984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10269178	1.00[AFR][1000 genomes]
rs10271713	1.00[AFR][1000 genomes]
rs1860581	1.00[AFR][1000 genomes]
rs217542	1.00[AFR][1000 genomes]
rs217543	1.00[AFR][1000 genomes]
rs217544	1.00[AFR][1000 genomes]
rs217586	1.00[AFR][1000 genomes]
rs217587	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs217592	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs217600	1.00[AFR][1000 genomes]
rs2191476	1.00[AFR][1000 genomes]
rs4719428	1.00[AFR][1000 genomes]
rs4721379	1.00[AFR][1000 genomes]
rs4721381	1.00[AFR][1000 genomes]
rs6461136	1.00[AFR][1000 genomes]
rs6461139	1.00[AFR][1000 genomes]
rs7781882	1.00[AFR][1000 genomes]
rs7792515	1.00[AFR][1000 genomes]
rs978175	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv887713	chr7:14888418-14939924	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv887714	chr7:14888418-14941576	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv2758104	chr7:14896877-15299786	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759512	chr7:14896877-15299786	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv887715	chr7:14898282-14939924	Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1027520	chr7:14905287-15035993	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv538742	chr7:14905287-15035993	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv887716	chr7:14933955-15021223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14929000-14940800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:14929200-14940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14935200-14940600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:14938200-14939200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:14938400-14939200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:14938400-14939400	Enhancers	Colon Smooth Muscle	Colon
7	chr7:14938600-14939000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:14938800-14939400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:14938800-14939600	Weak transcription	Osteobl	bone
10	chr7:14938800-14942000	Weak transcription	Muscle Satellite Cultured Cells	--

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

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