Variant report

Variant	rs558937
Chromosome Location	chr15:40443866-40443867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40437357..40438931-chr15:40442265..40443877,2	K562	blood:
2	chr15:40441619..40444532-chr15:40445691..40448469,3	K562	blood:
3	chr15:40440789..40442524-chr15:40442904..40444462,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152894	0.91[AMR][1000 genomes]
rs28625702	0.91[AMR][1000 genomes]
rs7181491	1.00[EUR][1000 genomes]
rs796389	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3423229	chr15:40417126-40447686	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3500491	chr15:40417175-40446353	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3500492	chr15:40417175-40446353	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv974494	chr15:40440073-40444446	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40438400-40446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40438800-40446800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:40440200-40446800	Weak transcription	Pancreas	Pancrea
4	chr15:40441800-40445000	Enhancers	HMEC	breast
5	chr15:40441800-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:40441800-40445200	Enhancers	NHEK	skin
7	chr15:40442000-40444400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:40442000-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:40442200-40444200	Enhancers	Psoas Muscle	Psoas
10	chr15:40442200-40444400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr15:40442400-40444400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:40442600-40444000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:40442600-40446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40442800-40448200	Weak transcription	Fetal Kidney	kidney
15	chr15:40443000-40446200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:40443000-40447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40443000-40447600	Weak transcription	Stomach Mucosa	stomach
18	chr15:40443200-40446400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:40443200-40452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:40443600-40444000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:40443800-40444000	Enhancers	Placenta	Placenta

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