Variant report

Variant	rs7522109
Chromosome Location	chr1:224522443-224522444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73118061	1.00[AFR][1000 genomes]
rs73118062	1.00[AFR][1000 genomes]
rs73118079	1.00[AFR][1000 genomes]
rs73121816	1.00[AFR][1000 genomes]
rs73123796	0.86[AFR][1000 genomes]
rs73127514	1.00[AFR][1000 genomes]
rs73127517	1.00[AFR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224518600-224526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224518600-224528600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224519200-224526200	Weak transcription	HepG2	liver
4	chr1:224521200-224522600	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:224521400-224522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:224521400-224522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:224521600-224527000	Weak transcription	A549	lung
8	chr1:224521600-224528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:224521600-224528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:224521800-224522600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:224521800-224528600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:224522000-224524600	Weak transcription	GM12878-XiMat	blood
13	chr1:224522200-224522600	Enhancers	K562	blood
14	chr1:224522200-224522600	Enhancers	Osteobl	bone
15	chr1:224522200-224523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:224522200-224526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:224522200-224528400	Weak transcription	HUVEC	blood vessel
18	chr1:224522400-224527000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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