Variant report

Variant	rs56971100
Chromosome Location	chr15:40410630-40410631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40403075..40404942-chr15:40410264..40412250,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13380113	0.81[AFR][1000 genomes]
rs28605810	0.83[AMR][1000 genomes]
rs28817922	0.83[AMR][1000 genomes]
rs57774408	0.83[AMR][1000 genomes]
rs7175040	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389504	0.83[AMR][1000 genomes]
rs73389525	0.83[AMR][1000 genomes]
rs73391318	0.83[AMR][1000 genomes]
rs73392615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392627	0.83[AMR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40402000-40418600	Weak transcription	Right Atrium	heart
2	chr15:40407400-40411200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:40408200-40414000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:40408200-40414200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:40408400-40414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:40408400-40416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:40408400-40417000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:40408600-40414000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40408600-40414000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr15:40408600-40414200	Weak transcription	Placenta	Placenta
11	chr15:40408600-40416600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:40409200-40411200	Weak transcription	Hela-S3	cervix
13	chr15:40409200-40415200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:40410200-40411000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr15:40410400-40411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:40410400-40411400	Enhancers	NHEK	skin
17	chr15:40410600-40410800	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:40410600-40410800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:40410600-40411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:40410600-40411000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:40410600-40411400	Enhancers	HMEC	breast

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