Variant report

Variant	rs234350
Chromosome Location	chr19:40470449-40470450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs234300	1.00[AMR][1000 genomes]
rs234305	1.00[AMR][1000 genomes]
rs234311	1.00[AMR][1000 genomes]
rs234320	1.00[AMR][1000 genomes]
rs234358	1.00[AMR][1000 genomes]
rs234372	1.00[AMR][1000 genomes]
rs3000955	1.00[AMR][1000 genomes]
rs337781	1.00[AMR][1000 genomes]
rs337797	1.00[AMR][1000 genomes]
rs405461	1.00[AMR][1000 genomes]
rs421421	1.00[AMR][1000 genomes]
rs57469004	1.00[AMR][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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas
4	chr19:40461600-40475400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:40464000-40475000	Weak transcription	GM12878-XiMat	blood
6	chr19:40465400-40474200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:40466200-40476200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:40466400-40474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:40466400-40474800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:40468200-40471600	Weak transcription	A549	lung
11	chr19:40468600-40475600	Weak transcription	Brain Anterior Caudate	brain
12	chr19:40470000-40473000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr19:40470000-40474200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:40470000-40475200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:40470200-40472600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:40470200-40473000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:40470200-40473400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:40470200-40474400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:40470200-40475200	Weak transcription	Stomach Mucosa	stomach

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