Variant report

Variant	rs2619093
Chromosome Location	chr10:119001817-119001818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr10:119001387-119001991	K562	blood:	n/a	n/a
2	TBL1XR1	chr10:119001448-119002012	K562	blood:	n/a	n/a
3	TEAD4	chr10:119001376-119001850	K562	blood:	n/a	n/a
4	JUND	chr10:119001441-119001886	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:119001180..119002700-chr3:73158543..73161387,2	MCF-7	breast:
2	chr10:119001180..119002700-chr17:41466350..41468296,2	K562	blood:
3	chr10:119001200..119002700-chr11:62609117..62610696,2	K562	blood:
4	chr10:119001180..119002700-chr3:73158602..73160591,2	K562	blood:
5	chr10:118999700..119002680-chr17:41380895..41383406,2	K562	blood:
6	chr10:119001180..119002700-chr17:41464210..41468296,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000225936	TF binding region
ENSG00000223247	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000236383	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2532798	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2532799	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2619095	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2619096	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2619102	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2619103	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2803820	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs363338	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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	nsv832002	chr10:118797070-119005840	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv896038	chr10:118917671-119002667	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812234	chr10:118977123-119004095	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3436378	chr10:118999787-119002535	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118999600-119002000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:119000200-119002200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr10:119000200-119002200	Bivalent/Poised TSS	Thymus	Thymus
4	chr10:119000400-119002000	Active TSS	Primary T cells from cord blood	blood
5	chr10:119001000-119002000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:119001200-119002000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:119001600-119002000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:119001600-119010200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:119001600-119013400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:119001800-119008000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:119001800-119011800	Weak transcription	Ovary	ovary

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

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