Variant report

Variant	rs74010790
Chromosome Location	chr15:40550934-40550935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40540803..40544639-chr15:40548942..40554143,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BUB1B-3	chr15:40550702-40552571	NONHSAT041818

Variant related genes	Relation type
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55738516	1.00[EUR][1000 genomes]
rs56874918	1.00[EUR][1000 genomes]
rs57314452	1.00[EUR][1000 genomes]
rs57767693	1.00[EUR][1000 genomes]
rs57856697	1.00[EUR][1000 genomes]
rs7174686	1.00[EUR][1000 genomes]
rs7180770	1.00[EUR][1000 genomes]
rs73391360	1.00[EUR][1000 genomes]
rs73391377	1.00[EUR][1000 genomes]
rs74010791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010792	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010794	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74010796	1.00[EUR][1000 genomes]
rs8039484	1.00[EUR][1000 genomes]
rs8041180	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	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40546000-40558400	Weak transcription	Brain Anterior Caudate	brain
2	chr15:40546000-40558600	Weak transcription	Brain Angular Gyrus	brain
3	chr15:40546000-40571800	Weak transcription	Right Ventricle	heart
4	chr15:40546200-40551600	Enhancers	Placenta	Placenta
5	chr15:40546200-40552600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:40546200-40568200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:40546400-40551200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:40546800-40559200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:40547000-40551600	Strong transcription	Esophagus	oesophagus
10	chr15:40547200-40551800	Strong transcription	Fetal Intestine Small	intestine
11	chr15:40547400-40551600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:40547800-40551400	Strong transcription	Gastric	stomach
13	chr15:40548000-40552400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:40548600-40551600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr15:40548600-40551600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:40548600-40551600	Enhancers	NH-A	brain
17	chr15:40549200-40551600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr15:40549200-40551600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr15:40549200-40551600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:40549600-40551000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:40549600-40551000	Genic enhancers	NHEK	skin
22	chr15:40549600-40551600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr15:40549600-40551600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:40549600-40554600	Weak transcription	Fetal Intestine Large	intestine
25	chr15:40549800-40551000	Enhancers	HMEC	breast
26	chr15:40549800-40551200	Weak transcription	Pancreas	Pancrea
27	chr15:40549800-40551400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:40549800-40551600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:40550000-40551200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:40550000-40551200	Enhancers	A549	lung
31	chr15:40550000-40551600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:40550000-40551600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:40550000-40568000	Weak transcription	Spleen	Spleen
34	chr15:40550200-40551400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:40550200-40551600	Enhancers	K562	blood
36	chr15:40550400-40551000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:40550400-40551400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:40550400-40551600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:40550400-40555200	Weak transcription	HSMMtube	muscle
40	chr15:40550400-40566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:40550600-40551400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr15:40550600-40551400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr15:40550600-40551400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:40550800-40551200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr15:40550800-40551200	Enhancers	Hela-S3	cervix
46	chr15:40550800-40551400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:40550800-40551400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr15:40550800-40551600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:40550800-40551600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:40550800-40551600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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