Variant report

Variant	rs6714504
Chromosome Location	chr2:114066146-114066147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17043247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1823095	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6724497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv961997	chr2:114064492-114067597	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114058200-114067200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114062800-114067000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:114063000-114067200	Weak transcription	Esophagus	oesophagus
4	chr2:114063400-114066200	Weak transcription	HMEC	breast
5	chr2:114063400-114066200	Weak transcription	NHEK	skin
6	chr2:114063400-114066400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:114063800-114066200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:114063800-114067000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:114064600-114082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:114064800-114067400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:114065400-114066200	Enhancers	Gastric	stomach
12	chr2:114066000-114066200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:114066000-114066200	Enhancers	Psoas Muscle	Psoas
14	chr2:114066000-114068000	Enhancers	HSMMtube	muscle
15	chr2:114066000-114068200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:114066000-114068200	Enhancers	HSMM	muscle

Quick Search:

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

what's new

Quick links