Variant report

Variant	rs251492
Chromosome Location	chr3:142696879-142696880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142695568..142698895-chr3:142718778..142721852,3	K562	blood:
2	chr3:142685155..142687473-chr3:142694018..142697111,4	K562	blood:
3	chr3:142670834..142673882-chr3:142694771..142697300,3	K562	blood:
4	chr3:142687733..142690904-chr3:142694108..142697012,4	K562	blood:
5	chr3:142692398..142697011-chr3:142719023..142723463,5	MCF-7	breast:
6	chr3:142297588..142299438-chr3:142694244..142697127,2	K562	blood:
7	chr3:142675836..142678410-chr3:142694530..142697291,2	MCF-7	breast:
8	chr3:142694373..142698058-chr3:142700090..142703022,3	K562	blood:
9	chr3:142671255..142673627-chr3:142694545..142697300,2	K562	blood:
10	chr3:142680621..142683011-chr3:142695424..142697663,2	MCF-7	breast:
11	chr3:142646363..142649526-chr3:142696686..142700491,3	K562	blood:
12	chr3:142680815..142687473-chr3:142694018..142698711,9	K562	blood:
13	chr3:142694636..142697933-chr3:142718362..142721852,5	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction
ENSG00000163714	Chromatin interaction
ENSG00000241570	Chromatin interaction
ENSG00000268129	Chromatin interaction
ENSG00000188582	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs185182	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251484	0.85[ASN][1000 genomes]
rs251485	0.81[EUR][1000 genomes]
rs251486	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs251489	0.84[ASN][1000 genomes]
rs251491	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3101060	0.85[ASN][1000 genomes]
rs36284	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36285	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40160	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs42381	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs668856	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs251492	SR140	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142694200-142699800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:142695400-142700200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:142695800-142700200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:142695800-142701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:142695800-142701000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:142695800-142701400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:142695800-142705800	Weak transcription	Left Ventricle	heart
8	chr3:142696000-142705800	Weak transcription	Right Atrium	heart
9	chr3:142696200-142700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:142696400-142697200	Enhancers	K562	blood
11	chr3:142696400-142699200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:142696400-142699600	Weak transcription	HepG2	liver
13	chr3:142696400-142700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:142696600-142697400	Enhancers	A549	lung
15	chr3:142696600-142698000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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