Variant report

Variant	rs2018224
Chromosome Location	chr8:124724035-124724036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11992243	1.00[AMR][1000 genomes]
rs16898765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1975114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7813635	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124704600-124725400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:124707000-124727000	Strong transcription	Fetal Intestine Large	intestine
3	chr8:124718600-124725800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr8:124718800-124731800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:124719000-124724600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:124720800-124726200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:124720800-124726400	Weak transcription	Esophagus	oesophagus
8	chr8:124720800-124726400	Strong transcription	Fetal Intestine Small	intestine
9	chr8:124721000-124724800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:124721200-124727200	Weak transcription	Fetal Stomach	stomach
11	chr8:124721400-124726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:124721600-124726400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:124721600-124726400	Weak transcription	NHEK	skin
14	chr8:124721600-124726600	Weak transcription	HMEC	breast
15	chr8:124721800-124726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:124722000-124724800	Weak transcription	HepG2	liver
17	chr8:124722000-124725000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:124722000-124725000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:124722000-124725000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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