Variant report

Variant	rs28415414
Chromosome Location	chr7:4691261-4691262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4689179..4692625-chr7:4694624..4697928,3	K562	blood:
2	chr7:4691125..4694069-chr7:4694624..4697296,2	K562	blood:
3	chr7:4680965..4683900-chr7:4690085..4692263,2	K562	blood:
4	chr7:4680965..4686174-chr7:4688845..4692263,7	K562	blood:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10269969	1.00[AFR][1000 genomes]
rs10271408	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887374	chr7:4469845-4691867	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	esv2758101	chr7:4592615-4746651	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2759503	chr7:4592615-4746651	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4689600-4692200	Enhancers	Fetal Intestine Large	intestine
2	chr7:4689600-4692400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:4689800-4691400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:4689800-4692200	Enhancers	Fetal Intestine Small	intestine
5	chr7:4689800-4692200	Enhancers	Fetal Stomach	stomach
6	chr7:4690000-4691400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:4690000-4692000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:4690000-4692000	Enhancers	Ovary	ovary
9	chr7:4690200-4696400	Weak transcription	Right Ventricle	heart
10	chr7:4690400-4692200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:4690600-4701600	Weak transcription	Right Atrium	heart
12	chr7:4690800-4691800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:4690800-4691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:4690800-4691800	Weak transcription	Fetal Kidney	kidney
15	chr7:4690800-4694800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:4690800-4700400	Weak transcription	NHDF-Ad	bronchial
17	chr7:4691000-4692200	Enhancers	HepG2	liver
18	chr7:4691000-4692600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:4691000-4694600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:4691200-4692000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:4691200-4692000	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:4691200-4695000	Weak transcription	Fetal Brain Male	brain
23	chr7:4691200-4695400	Weak transcription	Fetal Brain Female	brain

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