Variant report

Variant	rs8040505
Chromosome Location	chr15:50513691-50513692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction
ENSG00000140284	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16963514	0.82[YRI][hapmap]
rs16963517	0.82[YRI][hapmap]
rs6493418	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs8042671	0.83[YRI][hapmap]

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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr15:50498000-50515200	Weak transcription	K562	blood
2	chr15:50503200-50514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:50503600-50515600	Weak transcription	A549	lung
4	chr15:50503600-50519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:50503600-50539800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:50503800-50515000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:50505200-50514400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:50508000-50515000	Weak transcription	HepG2	liver
9	chr15:50508000-50539800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:50511800-50525400	Strong transcription	Hela-S3	cervix
11	chr15:50512000-50519200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:50512400-50513800	Enhancers	Fetal Intestine Large	intestine
13	chr15:50512400-50515000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:50512600-50513800	Strong transcription	Liver	Liver
15	chr15:50512800-50530000	Weak transcription	Colonic Mucosa	Colon
16	chr15:50513000-50513800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:50513200-50514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:50513400-50513800	Enhancers	Stomach Mucosa	stomach
19	chr15:50513600-50516200	Weak transcription	Fetal Intestine Small	intestine

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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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