Variant report

Variant	rs72680242
Chromosome Location	chr14:47696593-47696594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10137872	0.84[EUR][1000 genomes]
rs10144279	0.88[EUR][1000 genomes]
rs17118227	0.98[EUR][1000 genomes]
rs17118256	0.87[EUR][1000 genomes]
rs35778189	0.87[EUR][1000 genomes]
rs58427212	0.88[EUR][1000 genomes]
rs8007475	0.84[EUR][1000 genomes]
rs8012843	0.98[EUR][1000 genomes]
rs8020638	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv901890	chr14:47594099-47729711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv901891	chr14:47620548-47708397	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv901892	chr14:47620548-47729711	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1046326	chr14:47629646-47845903	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv901893	chr14:47633066-47715509	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv456302	chr14:47650921-47715621	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv564772	chr14:47650921-47715621	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr14:47695200-47699200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47695600-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:47695600-47697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:47695600-47698000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:47696000-47696600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:47696000-47696600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:47696200-47696600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:47696200-47696600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr14:47696200-47696600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:47696200-47696800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr14:47696400-47696800	Flanking Active TSS	HUVEC	blood vessel
12	chr14:47696400-47696800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr14:47696400-47697000	Enhancers	Dnd41	blood
14	chr14:47696400-47697400	Enhancers	Primary T cells from cord blood	blood

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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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