Variant report

Variant	rs2250230
Chromosome Location	chr10:4070427-4070428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17131942	0.90[EUR][1000 genomes]
rs1886945	0.92[ASN][1000 genomes]
rs2013181	0.90[ASN][1000 genomes]
rs2031580	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2478064	0.92[ASN][1000 genomes]
rs2478065	0.92[ASN][1000 genomes]
rs2765652	0.99[ASN][1000 genomes]
rs2765653	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2765654	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765655	0.99[ASN][1000 genomes]
rs2765660	0.92[ASN][1000 genomes]
rs2765661	0.92[ASN][1000 genomes]
rs73585267	0.90[EUR][1000 genomes]
rs73585275	0.90[EUR][1000 genomes]
rs73585277	0.90[EUR][1000 genomes]
rs943020	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4066400-4081200	Weak transcription	Gastric	stomach
2	chr10:4067400-4077000	Weak transcription	Right Atrium	heart
3	chr10:4068000-4072800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:4068200-4071000	Weak transcription	Placenta	Placenta
5	chr10:4069200-4075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:4069600-4075200	Weak transcription	NHDF-Ad	bronchial
7	chr10:4070000-4070600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:4070000-4070800	Enhancers	NHLF	lung
9	chr10:4070000-4071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:4070000-4071200	Enhancers	Colon Smooth Muscle	Colon
11	chr10:4070000-4071200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr10:4070200-4070600	Enhancers	Fetal Stomach	stomach
13	chr10:4070200-4071000	Enhancers	Fetal Lung	lung
14	chr10:4070400-4072000	Weak transcription	Lung	lung
15	chr10:4070400-4077200	Weak transcription	Esophagus	oesophagus

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